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RDPlatform project shares the fruits of its labour in a new report on rare disease research in Europe

A new report, prepared in the context of the RareDiseasePlatform project (RDPlatform), a three-year support action project of the European Union's Seventh Framework Programme (HEALTH-F2-2008-201230) that ran from May 2008 through April 2011, sheds light on where research and development (R&D) in the field of rare diseases has been - and where it needs to go next.

The Report on Rare Disease Research, Its Determinants in Europe and the Way Forward presents a compilation of data gathered within the RDPlatform project. As such it offers readers an inventory of publicly-funded research initiatives on the national and international levels in the field of rare diseases and orphan drugs. The data, accessible on pan-European rare disease and orphan drug informational portal Orphanet, encompasses ongoing research projects, clinical trials, and registries. Other areas covered in the report include testing, therapeutic development, and R&D determinants (such as prevalence and medical area). The rare disease ontologies, data repositories and bioinformatic tools are given special emphasis in the report.

Breaking activities down by country, the RDPlatform report provides a snapshot of national, multi-national and EU project involvement for over 30 countries. The policy decisions that supported the research actions are outlined, including European-level policies. This information can be instructive to countries developing their own measures in the field of rare diseases and orphan drugs. The report also considers possible future actions to more efficiently build upon what has already been accomplished. Duplication of effort is a luxury the rare disease community cannot afford!

The Report on Rare Disease Research, Its Determinants in Europe and the Way Forward adds to a growing toolbox of resources designed to help move rare disease and orphan drug research forward as productively as possible. Drafted by experts from the RDPlatform project, the report was reviewed by a large number of stakeholders and discussed at a workshop earlier this year. Together with the Rare Diseases and Orphan Products report produced late last year by the Institute of Medicine in the USA (learn more) the RDPlatform report will serve as a roadmap at the upcoming meeting of the recently-formed International Rare Disease Research Consortium (IRDiRC) taking place in Canada next month.
Consult the report


France’s Biomedicine Agency again discloses pre- and post-natal genetic testing activity in its 2010 annual report
Created under the French Bioethics law of 2004, the Biomedicine Agency is competent in the field of human reproduction, embryology and human genetics, including the therapeutic and biological activities of medically assisted procreation, prenatal diagnosis, genetics, research on embryonic stem cells, and organ transplantation. Recently, the Agency’s agenda focused particularly on the management of medically assisted procreation, prenatal diagnosis, pre-implantation genetic diagnosis, genetic research on embryos international action, training of health personnel, communication and the promotion of organ donation.

The Agency has now published its 2010 annual report, available online. For the second consecutive year, the Agency includes data on postnatal genetic testing carried out in France culled via a partnership with rare disease and orphan drug portal Orphanet. The annual report reveals that 361 169 tests were performed in France in 2010, including 11 564 pharmacogenetic tests (3.2%) - an area of increasing activity. The data come from 236 laboratories, representing 98% of the total canvassed. Of these, 75 have at least one cytogenetic activity (including molecular testing) and 188 have at least one molecular genetics activity. In the domain of molecular genetics (including pharmacogenomics), diagnostic tests were undertaken for 950 diseases (of a total offer of 1084 diseases for which testing is possible in France). Of the 950 diseases tested, 665 tests are available in only one laboratory in the country. The tests involved nearly 1100 different genes. Two indications (hemochromatosis and non rare thrombophilia) represented over 40% of the total analyses conducted in 2010.

There were also 70 997 karyotype analyses performed in 2010 and 13 928 in situ hybridization (FISH). The percentage of abnormalities (balanced and unbalanced) diagnosed by postnatal cytogenetic karyotype in 2010 was 8.4% for intellectual deficit and malformation syndromes, 3% for reproductive disorders, 13% for chromosome breakage syndromes, and 13.9% for family studies.

Prenatal diagnosis
In the arena of prenatal diagnosis (PND), of 35 783 cases examined in 2009, 6993 certificates were issued for a medical termination of pregnancy (MTP). Of these, 578 pregnancies were pursued although a MTP had been issued. Among MTP cases, 43.1% were for malformations or malformation syndromes, 39.2% for chromosomal abnormalities, 5.4% for genetic abnormalities, 3.2% for maternal conditions, and 1.4% involved infections.

Ultrasound is the most practiced prenatal examination tool in France. Unregulated by law, its practice does not fall within the competence of the Agency. Biologically, PND involves sampling either the foetus and/or its annexes (amniotic fluid, chorionic villi, foetal blood), or the mother's blood. Among the 74 629 foetuses studied by cytogenetic analysis, 3849 were affected. Among 2728 foetuses studied by molecular genetics, 534 anomalies were detected. Biochemistry and foetal serum markers resulted in 27 diagnoses of hereditary diseases: 50 in endocrinology (abnormal genital or genotype-phenotype discordance, abnormal thyroid or 21-hydroxylase deficiency); 251 involved neural tube defects and 550 detected trisomy 21 (determined by serum markers on 660 629 women tested). The only non-invasive prenatal genetic diagnosis involves the analysis of foetal DNA circulating in the maternal blood, which yielded 5921 diagnoses in 2009. The number of foetal Rh determination using this technique is increasing: from 384 cases in 2005 to 5359 in 2009. Finally, the number of medically assisted procreation procedures employing pre-implantation genetic diagnosis in 2009 led to the birth of 59 children in France (versus 71 in 2008).

Embryonic research
The French Bioethics Law of August 2004 stipulated the prohibition of embryonic research, but allowed the possibility of research under certain conditions for a maximum of five years following the publication of the decree. The moratorium period expired in February 2011. Between September 2004 and February 2011, 173 permits to conduct such research were issued, of which 71 were for research protocols, 24 involved the conservation of embryonic stem cells and 46 the importation of embryonic stem cell lines. The revised Bioethics Law of July 2011 maintains the possibility of French scientists to conduct research under certain circumstances.

The 2010 report of the Biomedicine Agency demonstrates that France continues to be a model for other countries in terms of the range of its genetic test offer, its health care coverage in this area, and its remarkable transparency of data.
Consult the 2010 annual report of the Biomedicine Agency (in French language)

View the report tables and charts



DG Enterprise
New EMINet report looks at the feasibility of a coordinated system for orphan drug access

The European Medicine Information Network (EMINet) Initial Investigation to Assess the Feasibility of a Coordinated System to Access Orphan Medicines, a new report commissioned by the European Commission DG Enterprise and Industry, presents a country-by-country survey of accessibility to orphan medicines, with an emphasis on product distribution through the Centres of Expertise and derogatory procedures for accessing products in situations of restricted availability (typically Compassionate Use-type programmes). Under the Council Recommendation on an Action in the Field of Rare Diseases, designated centres of expertise for rare diseases should be identified, created and coordinated at both the Member State and EU levels to offer a multidisciplinary approach to rare disease care. The European Union Committee of Experts on Rare Diseases (EUCERD) will be adopting recommendations soon on the criteria necessary for establishing a centre of expertise in the EU.

Taking Pompe disease as an example, the EMINet report surveys both the availability of treatments across Europe and the distribution of centres of expertise for the disease. The EMINet findings, combined with the long-awaited CAVOD report, which focuses on developing a coordinated approach to providing orphan drug information to all Member States prior to price negotiation in order to streamline health technology assessment and facilitate pricing decisions, will hopefully result in a more efficient and equitable distribution of orphan drugs. Both reports seek to further the understanding of product access and availability for rare disease treatments across Europe and move forward the effort to establish a coordinated system for accessing orphan drugs.
Consult the EMINet report



EMA recommends restrictions on Pandemrix vaccine following reported cases of narcolepsy in Finland and Sweden
Following an increased number of reported cases of narcolepsy among children and adolescents in Finland and Sweden after vaccination with Pandemrix in the context of the H1NI pandemic vaccination campaign, the European Medicines Agency is recommending use of Pandemrix only in the absence of seasonal trivalent influenza vaccines in persons under 20 years of age. The recommendation was taken after an assessment of available data on a possible association between Pandemrix and narcolepsy and the impact on the global benefit-risk balance. One expert observed that “… this case illustrates that there are not only "rare diseases" but also "rare risks" and "rare complications". These may well turn out to have a genetic background as well”.
Consult the EMA recommendation
Further information



Too expensive: you die! Swiss documentary explores the theme of non-reimbursement for orphan products deemed too expensive
In Switzerland, a Federal Court decision of 23 November, 2010 sided with an insurance company refusing to pay for rare disease therapy considered too expensive. A television documentary followed by a debate revisiting the decision was aired in Switzerland on 31 August. Rare disease and orphan drug portal Orphanet-Switzerland, appeared in the programme that exposed "the forgotten patients” of the Swiss health system. For more information (in French language)
New report from the WHO looks at disability around the world
The comprehensive World Report on Disability from the World Health Organization (WHO) provides a sweeping overview of disability – prevalence and demographics, related costs, poverty and vulnerability, barriers to health care, rehabilitation, assistance, support, work and education. The report culminates with a set of recommendations seeking to improve conditions for persons with disability, of whom an estimated 95 million are children - 13 million of whom have “severe disability”. While rare or genetic diseases are not mentioned as a separate entity in the WHO report, it is inherently understood that the majority of rare conditions are disabling, affecting the ability to fully function, and that a large number of cases of disability are caused by rare conditions.
Consult the World Report on Disability

A room of one’s own: new Australian scheme helps young disabled persons move out of facilities designed for the elderly
A World Report article appearing in the Lancet depicts a new pilot scheme designed to help young Australians with disability acquire age-appropriate housing. According to the report, there are some 6500 disabled people under the age of 65 years being cared for in facilities designed for, and housing, the elderly: “Aged care homes are the default option, where, despite the best efforts of staff, specific care needs are rarely met and these younger people become separated from their families, withdrawn, and isolated. Staff numbers, training, and resources in the aged care sector are also unsuitable for care of younger people with disabilities”. Now, via the Young People in Residential Aged Care (YPIRAC) programme, some young disabled patients in Australia are able to access care tailored to their particular age and problem, along with “purpose-built” housing adapted to their situation. While the scheme is considered a success, funding access, and particularly wrangling between federal and local fund sources, threatens to stall progress.
Consult the PubMed abstract



Other European news
New guidance document on the initial evaluation of paediatric patients with suspected sex development disorders
A free-access article appearing in Clinical Endocrinology provides guidance on the initial evaluation of an infant or adolescence with a suspected disorder of sexual development. Although written as a United Kingdom-based guidance, save certain details and resources, the recommendations included are almost universally applicable. These include the need for adequate levels of expertise to recognise disorders - especially knowledge of the less common sex development disorders; the need to work in the framework of a multi-disciplinary team; the role of biochemical and genetic diagnostic tools, and their limitations in XY disorders of sexual development; a discussion of specific groups of diseases; and the goal of assessment as a support tool for the patient and family, for assigning a sex of rearing, and as a means of eliminating possible medical problems. The guidance also evokes the utility of networks and registries to support clinicians, and support groups and psychological services to support the patient and parents.
Consult the guidance document



Other International News
Baby’s First Test clarifies the newborn screening process in the USA
In the USA, the Genetic Alliance has launched Baby’s First Test, a new resource designed to enhance the understanding of newborn screening and aid decision making for both parents and professionals.
Visit Baby’s First Test

New programme focusing on rare neurodevelopmental disorders in children is first of its kind in the USA
In the USA, the Children’s Hospital of Pittsburgh has launched the Program for the Study of Neurodevelopment in Rare Disorders. It is the first of its kind in the country. The programme will offer evaluation, education, research, and intervention to children with rare, inherited neurological conditions. Amongst the featured services will be educational interventions, medication management, therapy, and equipment recommendations. The programme defines its overarching goal as improving “… the quality of life of children with rare disorders and help children develop to their full potential”.
Learn more

Social media help more than just friends connect
Love it or hate it, it seems that social media is here to stay. That being the case, it’s heartening to learn that it can serve as a useful tool for rare disease research. Indeed, the Mayo Clinic in the USA recently took a look at how social media and online networking can help researchers locate hard-to-find patients for studying rare disease natural history and outcome. The tools have also proved beneficial in aiding with recruitment of clinical trials in the field of rare diseases.
Learn more




A call for change: paediatric organ donation in Europe
An article appearing in Acta Paediatrica calls for legal, ethical and cultural change in the field of paediatric organ donation. Despite a growing need for organ donations for paediatric patients, due to an increasing transplantation success rate, the authors point out that there is no existing body at the European level to oversee the process of organ donation from children, nor is there a consistent approach toward the various legal or ethical issues surrounding either dead or dying children who could be potential organ donors. This timely article calls for a more harmonised approach throughout Europe, as well as a clarification of various ethical and legal issues in the field.
Consult the PubMed abstract

What kind of support, from whom, and at what moment for parents of children with rare trisomic conditions?
An interesting paper appearing in the Journal of Intellectual Disability Research looked at the kind of support parents of children with rare trisomies (9, 13 and 18 trisomic syndromes) receive from their entourage. This small, qualitative study showed that different kinds of support are essential at different moments – diagnosis, child birth, childhood, after the death of an affected child – and discussed how suitable support can be a contributing factor toward creating a positive experience in parenting a child with a developmental disability. To the authors’ knowledge there are no studies addressing the support needs of families with long-term survivors of rare trisomic conditions. However, long-term survival has been recorded in these groups and, as is true of a large number of rare diseases, life expectancy is expanding for affected children.
Consult the PubMed abstract




Cardiac and joint defects due to a recessive B3GAT3 mutation
The authors describe a distinct recessive phenotype in a consanguineous family, in which 5 members presented with congenital heart defects (including bicuspid aortic valve, aortic root dilatation, and mitral valve prolapsed), joint dislocations, short stature, and variable craniofacial dysmorphic features. They identified a responsible mutation in B3GAT3, the gene coding for glucuronosyltransferase-I (GlcAT-I), altering the initiation of proteoglycan synthesis. The study showed that reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations, including mitral valve prolapse, ventricular septal defect, and bicuspid aortic valve. They authors suggest naming this new syndrome Larsen-like syndrome, B3GAT3 type.
Read the PubMed abstract

Am J Hum Genet ; 15-27 ; 15 July 2011
IL11RA mutations causing craniosynostosis with delayed tooth eruption, maxillary hypoplasia, and supernumerary teeth
Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, or separately in several malformation syndromes. Here, the authors present an autosomal recessive syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary teeth. In 3 unrelated consanguineous Pakistani families, they found 3 homozygous missense mutations in IL11RA (encoding interleukin 11 receptor, alpha). The same gene was found mutated in 2 affected north European families without known consanguinity (one homozygous nonsense mutation and one homozygous duplication).
Read the PubMed abstract

Am J Hum Genet ; 67-81 ; 15 July 2011
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to mutations in IER3IP1
The authors describe an autosomal recessive syndrome consisting in primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in 2 unrelated consanguineous families with at least three affected children. Two homozygous missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. Further analyses implicated IER3IP1 in the regulation of cell survival. The authors concluded that IER3IP1 is involved in the development of microcephaly and diabetes via dysregulation of apoptosis.
Read the PubMed abstract

Am J Hum Gen ; 265-276 ; 12 August 2011
Primary immunodeficiencies affecting the differentiation of mononuclear phagocytes: a critical role for IRF8
Disseminated infection caused by bacille Calmette-Guérin (BCG) vaccines remains unexplained in many affected persons. Here, the authors found two distinct mutations affecting interferon regulatory factor 8 (IRF8) in patients with BCG disease and complete or partial loss of mononuclear phagocyte subgroups. The first mutation, K108E, is responsible for a life-threatening paediatric syndrome. It was identified in an infant presenting with features of severe immunodeficiency, including early-onset disseminated BCG disease, who required haematopoietic stem-cell transplantation. This disease is an autosomal recessive severe immunodeficiency with a complete lack of circulating monocytes and dendritic cells.

The second mutation, T80A, was characterised in two otherwise healthy subjects with a history of disseminated but curable BCG disease in childhood. The T80A variant causes an autosomal dominant, milder immunodeficiency with a selective depletion of CD11c+CD1c+ circulating dendritic cells, representing a novel, albeit rare, mendelian susceptibility to mycobacterial disease.
Read the PubMed abstract

N Engl J Med ; 127-138 ; 14 July 2011
A 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
The authors report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one individual. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behaviour were frequently observed. Genetic analyses revealed that the smallest region of overlap was a 539.7 kb interval and encompassed three genes, among which ZFHX4.
Read the PubMed abstract

Am J Hum Genet ; 295-301 ; 12 August 2011
Characterisation of syndromic developmental delay associated with 10p12p11 microdeletions
Six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 (ranging from 1.0 to 10.6  Mb) are described by the authors. The smallest region of overlap is 306  kb, which includes WAC gene. Another patient had previously been described with a 10  Mb deletion, partially overlapping with the six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations.
Read the PubMed abstract

Eur J Hum Genet ; 959-964 ; September 2011
A 9 Mb Xp22.2-22.13 duplication associated with a syndromic intellectual deficit
The authors report on a family with X-linked syndromic intellectual deficit caused by an Xp22.2-22.13 duplication. The four affected sons presented with intellectual deficit, developmental delay, hypotonia, short stature, scoliosis, cardiovascular problems, and mild dysmorphic facial features. The mother and the daughter carry the duplication, with normal intelligence and some common clinical features, as well as different clinical abnormalities.
Read the PubMed abstract

Eur J Med Genet ; e510-e515 ; September-October 2011
The TEMPI syndrome: a novel multisystem disease
In this letter, the authors describe 2 novel cases they suggest to group with 4 previously published cases in a TEMPI syndrome: telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting. The pathophysiology underlying this syndrome remains unclear, despite extensive imaging and testing. IgG kappa paraprotein was detected in all three patients tested. The proteasome inhibitor bortezomib was tried for one patient. The good response supports the hypothesis that the IgG kappa paraprotein is involved in the pathophysiology of TEMPI syndrome.
Read the PubMed abstract

N Engl J Med ; 475-477 ; 4 August 2011



Mendelian susceptibility to mycobacterial disease: germline CYBB mutations responsible for X-linked recessive disease
Read the PubMed abstract
To read more about "Mendelian susceptibility to atypical mycobacteria"

Nat Immunol ; 213-221 ; March 2011
Meckel syndrome: the third gene of ciliary B9 protein, B9D2, may also be at cause
Read the PubMed abstract
To read more about "Meckel syndrome"

Am J Hum Genet ; 94-110 ; 15 July 2011
Autosomal recessive nonsyndromic intellectual deficit: some families have a mutation in MAN1B1 or MED23
Read the PubMed abstract
To read more about "Autosomal recessive nonsyndromic intellectual deficit"

Am J Hum Genet ; 176-182 ; 15 July 2011
Science ; 1161-1163 ; 26 August 2011
Congenital Leber amaurosis: recessive mutations in KCNJ13 identified
Read the PubMed abstract
To read more about "Leber congenital amaurosis"

Am J Hum Genet ; 183-190 ; 15 July 2011
Hereditary sensory and autonomic neuropathy type 2: KIF1A mutations are rare cause of the disease
Read the PubMed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 2"

Am J Hum Genet ; 219-230 ; 12 August 2011
Holoprosencephaly: CDON mutations resulting in defective interactions with other hedgehog receptors responsible
Read the PubMed abstract
To read more about "Holoprosencephaly"

Am J Hum Genet ; 231-240 ; 12 August 2011
Adult neuronal ceroid lipofuscinosis : mutations in DNAJC5 cause autosomal-dominant disease
Read the PubMed abstract
To read more about "Adult neuronal ceroid lipofuscinosis"

Am J Hum Genet ; 241-252 ; 12 August 2011
Autosomal recessive retinitis pigmentosa: MAK, involved in regulation of cilia length in photoreceptors, as new faulty gene
Read the PubMed abstract
To read more about "Retinitis pigmentosa"

Am J Hum Genet ; 253-264 ; 12 August 2011
PNAS ; e569-e576 ; 23 August 2011
KBG syndrome: mutations in ANKRD11 at cause
Read the PubMed abstract
To read more about "KBG syndrome"

Am J Hum Genet ; 289-294 ; 12 August 2011
Autosomal dominant Charcot-Marie-Tooth disease type 2: a DYNC1H1 mutation identified in a large pedigree
Read the PubMed abstract
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2"

Am J Hum Genet ; 308-312 ; 12 August 2011
Familial retinal arterial macroaneurysms: a mutation of IGFBP7 is responsible for the disease
Read the PubMed abstract
Am J Hum Genet ; 313-319 ; 12 August 2011
Autosomal recessive cerebellar ataxia: a SYT14 mutation causes adult-onset disease with psychomotor retardation
Read the PubMed abstract
To read more about "Autosomal recessive cerebellar ataxia"

Am J Hum Genet ; 320-327 ; 12 August 2011
Adams-Oliver syndrome: recessive mutations in DOCK6 identified
Read the PubMed abstract
To read more about "Adams-Oliver syndrome"

Am J Hum Genet ; 328-333 ; 12 August 2011
Familial steroid-resistant nephrotic syndrome with focal segmental hyalinosis: MYO1E mutations cause childhood-onset
Read the PubMed abstract
To read more about "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis"

N Engl J Med ; 295-306 ; 28 July 2011
Idiopathic infantile hypercalcaemia: recessive loss-of-function mutations in CYP24A1 responsible
Read the PubMed abstract
N Engl J Med ; 410-421 ; 4 August 2011
Generalised pustular psoriasis: homozygous missense and compound heterozygous mutations in IL36RN at cause
Read the PubMed abstract
To read more about "Generalized pustular psoriasis"

Am J Hum Genet ; 432-437 ; 9 September 2011
N Engl J Med ; 620-628 ; 18 August 2011

Proteus syndrome: a somatic activating mutation in AKT1 is found in a majority of patients
Read the PubMed abstract
To read more about "Proteus syndrome"

N Engl J Med ; 611-619 ; 18 August 2011
Bohring-Opitz syndrome: de novo nonsense mutations discovered in ASXL1
Read the PubMed abstract
To read more about "Bohring-Opitz syndrome"

Nat Genet ; 729-731 ; August 2011
Gray platelet syndrome: NBEAL2, encoding a BEACH protein required for biogenesis of platelet α-granules, is responsible
Read the PubMed abstracts
To read more about "Gray platelet syndrome"

Nat Genet ; 732-734 ; August 2011
Nat Genet ; 735-737 ; August 2011
Nat Genet ; 738-740 ; August 2011
Congenital hypogonadotropic hypogonadism: mutations in HS6ST1 (HS 6-O-sulfotransferase 1) identified
Read the PubMed abstract
To read more about "Congenital hypogonadotropic hypogonadism"

PNAS ; 11524-11529 ; 12 July 2011
Congenital diaphragmatic hernia: an Xq12q13.1 microduplication encompassing the EFNB1 gene in a male patient
Read the PubMed abstract
To read more about "Congenital diaphragmatic hernia"

Eur J Med Genet ; e525-e527 ; September-October 2011





Fundamental Research
Charcot-Marie-Tooth disease: HDAC6 inhibitors reverse axonal loss in mouse models with mutant HSPB1
Read the PubMed abstract
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2F"
To read more about "Distal hereditary motor neuropathy type 2"

Nat Med ; 968-974 ; August 2011
Hereditary cerebral cavernous malformation: conditional deletion of CCM2 causes brain haemorrhage in a mouse model
Read the PubMed abstract
To read more about "Hereditary cerebral cavernous malformation"

Hum Mol Genet ; 3198-3206 ; 15 August 2011
LGMD2A: pathogenity of some calpain 3 mutations linked to reduced anchorage to myofibrils and altered stability
Read the PubMed abstract
To read more about "Autosomal recessive limb girdle muscular dystrophy type 2A"

Hum Mol Genet ; 3331-3345 ; 1 September 2011
Rett syndrome: induced pluripotent stem cells from patients displaying defect in neuronal maturation
Read the PubMed abstract
To read more about "Rett syndrome"

PNAS ; 14169-14174 ; 23 August 2011
Systemic sclerosis: identification of novel genetic markers associated with clinical phenotypes
Read the PubMed abstract
To read more about "Systemic sclerosis"

PLoS Genet ; e1002178 ; July 2011
17p13.3 duplication syndrome: increased RPA1 gene dosage affects genomic stability, potentially contributing to the disease
Read the PubMed abstract
To read more about "17p13.3 microduplication syndrome"

PLoS Genet ; e1002247 ; August 2011
Hodgkin lymphoma: germline NPAT mutation as a candidate risk factor
Read the PubMed abstract
To read more about "Hodgkin lymphoma"

Blood ; 493-498 ; 21 July 2011
Wolf-Hirschhorn syndrome: Wolf-Hirschhorn syndrome candidate 1 gene is involved in the cellular response to DNA damage
Read the PubMed abstract
To read more about "Wolf-Hirschhorn syndrome"

PNAS ; 13130-13134 ; 9 August 2011


Clinical Research
Retroperitoneal fibrosis: prednisone is more effective than tamoxifen in prevention of relapses
Read the PubMed abstract
To read more about "Retroperitoneal fibrosis"

Lancet ; 388-346 ; 23 July 2011
Duchenne muscular dystrophy: safety and biochemical efficacy of systemic morpholino oligomer treatment
Read the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Lancet ; 595-605 ; 13 August 2011
Proximal spinal muscular atrophy type 3: no clinical effect of valproic acid in ambulatory children
Read the PubMed abstract
To read more about "Proximal spinal muscular atrophy type 3"

PLoS One ; e21296 ; July 2011
Juvenile idiopathic arthritis: superiority of infliximab plus methotrexate in very early polyarticular disease
Read the PubMed abstract
To read more about "Juvenile idiopathic arthritis"

Ann Rheum Dis ; 1605-1612 ; September 2011
Sickle cell anaemia: discontinuing prophylactic transfusions increases the risk of silent brain infarction in children
Read the PubMed abstract
To read more about "Sickle cell anemia"

Blood ; 894-898 ; 28 July 2011
Beta-thalassaemia major: long-term efficacy and safety of deferasirox in adult and paediatric patients
Read the PubMed abstract
To read more about "Beta-thalassemia major"

Blood ; 884-893 ; 28 July 2011
Primary amyloidosis: efficacy and safety of once-weekly and twice-weekly bortezomib in patients with relapsed disease
Read the PubMed abstract
To read more about "Primary amyloidosis"

Blood ; 865-873 ; 28 July 2011
Immune thrombocytopenic purpura: safety and efficacy of romiplostim in children
Read the PubMed abstract
To read more about "Immune thrombocytopenic purpura"

Blood ; 28-36 ; 7 July 2011
Acquired aplastic anaemia: rabbit antithymocyte globulin (ATG) inferior to horse ATG in a randomised study
Read the PubMed abstract
To read more about ""

N Engl J Med ; 430-438 ; 4 August 2011
Congenital muscular dystrophies: an ENMC International Workshop focused on outcome measures
Read the text
To read more about "Congenital muscular dystrophy"

Neuromuscul Disord ; 513-522 ; July 2011
Muscle-manifesting mitochondrial respiratory chain deficiencies: FGF-21 as a diagnostic biomarker
Read the PubMed abstract
Lancet Neurol ; 806-818 ; September 2011
Anti-NMDA receptor encephalitis: an important cause of neuropsychiatric deficits in children
Read the PubMed abstract
To read more about "Limbic encephalitis associated with NMDA receptor antibodies"

Arthritis Rheum ; 2516-2522 ; August 2011
Noonan syndrome: an increased risk of cancer in patients carrying a PTPN11 mutation
Read the PubMed abstract
To read more about "Noonan syndrome"

Eur J Hum Genet ; 870-874 ; August 2011
X-linked immunodeficiency: family cases with a hypomorphic mutation in XIAP associated with a rare polymorphism in CD40LG
Read the PubMed abstract
To read more about "Hyper-IgM syndrome type 1"
To read more about "X-linked lymphoproliferative disease"

Blood ; 252-261 ; 14 July 2011
Split hand-split foot: a de novo 19p13.11 microdeletion provides indirect evidence for EPS15L1 to be a strong candidate
Read the PubMed abstract
To read more about "Split hand - split foot"

Eur J Med Genet ; e501-e514 ; September-October 2011


Gene Therapy
Achromatopsia: long-term and age-dependent restoration of visual function in CNGB3 deficient mice
Mutations in the CNGB3 gene account for >50% of all known cases of achromatopsia. The authors tested subretinal delivery of an rAAV2/8 vector containing a human cone arrestin promoter and a human CNGB3 cDNA in CNGB3 deficient mice. Successful restoration of cone function, with long-term improvement of retinal function and a significant improvement in visual acuity, was observed. Successful restoration of cone function was observed even when treatment was initiated at 6 months of age; however, restoration of normal visual acuity was only possible in younger animals (e.g. 2-4 weeks old).
Read the PubMed abstract

To read more about "Achromatopsia"

Hum Mol Genet ; 3161-3175 ; 15 August 2011
MNGIE: haematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model
Mutations in the TYMP gene, which encodes thymidine phosphorylase (TP), cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The authors transduced TP-deficient B-lymphoblastoid cells from two MNGIE patients with lentiviral vectors carrying a functional copy of the human TYMP DNA coding sequence. This restored TP activity in the cells. Additionally, lentiviral-mediated haematopoietic gene therapy was used in partially myeloablated model mice. In spite of the relatively low levels of molecular chimerism achieved, high levels of TP activity were observed in the peripheral blood of the transplanted mice, with a concomitant reduction of thymidine and deoxyuridine concentrations.
Read the PubMed abstract

To read more about "Mitochondrial neurogastrointestinal encephalomyopathy"

Gene Ther ; 795-806 ; August 2011
Haemophilia A: IL-2 complexes induced tolerance to factor VIII after factor VIII plasmid-mediated gene therapy in mice
Immune responses against factor VIII (FVIII) can constitute a major complication following haemophilia A (HemA) gene therapy. Recent findings showed that regulatory T (Treg) cells are important regulators for anti-FVIII immune responses and that interleukin-2 (IL-2) bound to a particular anti-IL-2 monoclonal antibody (referred to as IL-2 complexes) can selectively and significantly expand some Treg cells. In this new study, the authors investigated whether treatment with IL-2 complexes to expand Treg cells could modulate anti-FVIII immune responses following gene therapy. Three consecutive IL-2 complexes treatments combined with FVIII plasmid injection prevented anti-FVIII formation and achieved persistent, therapeutic-level of FVIII expression in HemA mice. Treatment with IL-2 complexes did not adversely affect immune responses to T-dependent or T-independent neoantigens in the long term.
Read the PubMed abstract

To read more about "Hemophilia A"

Mol Ther ; 1511-1520 ; August 2011
Haemophilia B: two reports of therapeutic stable genomic correction in mouse models
In the first paper, the authors used the phiC31 integrase system, which efficiently integrates plasmid DNA carrying a transgene and an attB site into a limited number of endogenous pseudo attP sites in mammalian genomes. They injected plasmids encoding phiC31 integrase and human factor IX (hFIX) in FIX knockout mice. Prolonged therapeutic levels of hFIX over a 6-month time course were obtained, with sustained FIX activity in plasma and phenotypic correction of bleeding after tail clip. The second paper reports on a promising approach for the treatment of genetic disorders, genome editing, to correct a mutant gene in situ. The authors used zinc finger nucleases (ZFNs). They showed that ZFNs are able to efficiently induce double-strand breaks when delivered directly to mouse liver and that, when co-delivered with an appropriately designed gene-targeting vector, they can stimulate gene replacement. The level of gene targeting achieved was sufficient to correct the prolonged clotting times in a mouse model of haemophilia B, and remained persistent after induced liver regeneration.
Read the PubMed abstracts

To read more about "Hemophilia B"

Gene Ther ; 842-848 ; August 2011
Nature ; 217-221 ; 26 June 2011


Therapeutic Approaches
Duchenne muscular dystrophy: chronic AMPK activation triggers beneficial adaptations in mdx mouse skeletal muscle
Read the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet ; 3478-93 ; 1 September 2011
Proximal spinal muscular atrophy: increasing expression and decreasing degradation of SMN ameliorate the phenotype in mice
Read the PubMed abstract
To read more about "Proximal spinal muscular atrophy"

Hum Mol Genet ; 3667-3677 ; 15 September 2011
Steinert myotonic dystrophy: discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in animal
Read the PubMed abstract
To read more about "Steinert myotonic dystrophy"

PNAS ; 11866-11871 ; 19 July 2011
X-linked adrenoleukodystrophy: antioxidants halt axonal degeneration in a mouse model
Read the PubMed abstract
To read more about "X-linked adrenoleukodystrophy"

Ann Neurol ; 84-92 ; July 2011
NARP syndrome: a yeast-based assay identifies drugs active in the treatment of human ATP synthase disorders
Read the PubMed abstract
To read more about "NARP syndrome"

PNAS ; 11989-11994 ; 19 July 2011
Sickle cell anaemia: pomalidomide augments fetal haemoglobin production without myelosuppressive effects in model mice
Read the PubMed abstract
To read more about "Sickle cell anemia"

Blood ; 1109-1112 ; 28 July 2011


Diagnostic Approaches
Amyotrophic lateral sclerosis: benefit of the Awaji diagnostic algorithm
Several retrospective studies suggested that the use of the Awaji algorithm was more sensitive for early diagnosis of amyotrophic lateral sclerosis (ALS) than the currently used revised El Escorial criteria. The authors prospectively compared the revised El Escorial criteria with the Awaji algorithm in 200 patients referred for suspicion of ALS. The Awaji algorithm was significantly more sensitive compared to the revised El Escorial criteria, without resulting in false-positive diagnoses of ALS.
Read the PubMed abstract

To read more about "Amyotrophic lateral sclerosis"

Ann Neurol ; 79-83 ; July 2011
Prader-Willi and Angelman syndromes: establishment of the first WHO international genetic reference panel
The authors developed a panel of six genotyping reference materials for Prader-Willi and Angelman syndromes, which should be stable for many years and available to all diagnostic laboratories. The panel comprises three Prader-Willi syndrome materials (two with different paternal deletions, and one with maternal uniparental disomy (UPD)) and three Angelman syndrome materials (one with a maternal deletion, one with paternal UPD or an epigenetic imprinting centre defect, and one with a UBE3A point mutation). In total, 37 laboratories from 26 countries participated in a collaborative study to assess the suitability of the panel. The panel was established by the Expert Committee on Biological Standardization of the World Health Organization as the first International Genetic Reference Panel for Prader-Willi and Angelman syndromes.
Read the PubMed abstract

To read more about "Prader-Willi syndrome"
To read more about "Angelman syndrome"

Eur J Hum Genet ; 857-864 ; August 2011



Systemic sclerosis: no clear benefit of pulmonary arterial hypertension therapies for patients with interstitial lung disease
The authors evaluated the outcomes and efficacy of pulmonary arterial hypertension (PAH) therapies in patients with systemic sclerosis (SSc)-related PH complicating ILD (PH-ILD). Their retrospective analysis of consecutive SSc patients from two large referral centers included 70 patients with confirmed PH-ILD. PAH therapies were associated with no clear benefits. Deterioration in oxygenation was an important determinant of long-term survival.
Read the PubMed abstract

To read more about "Systemic sclerosis"

Arthritis Rheum ; 2456-2464 ; August 2011
Wegener granulomatosis: long-term follow-up of solid malignancies among etanercept-treated patients
An association between therapeutic inhibition of tumour necrosis factor (TNF) and solid malignancies was observed during the Wegener’s Granulomatosis Etanercept Trial, which included 180 patients with Wegener granulomatosis [granulomatosis with polyangiitis (Wegeners) – GPA]. Here, the authors report on long-term follow-up of this multicenter cohort, to determine the malignancy risk beyond the time of exposure. Post-trial follow-up data were available for 153 patients, with a median follow-up time of 43 months. The incidence of solid malignancy remained increased. However, this could not be attributed solely to etanercept exposure during the trial. Anti-TNF therapy with etanercept appeared to further increase the risk of malignancy observed in patients with GPA treated with cytotoxic agents and should be avoided in these patients.
Read the PubMed abstract

To read more about "Wegener granulomatosis"

Arthritis Rheum ; 2495-2503 ; August 2011
Ten new Clinical Utility Gene Cards available
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published ten new Clinical Utility Gene Cards for:
Hypertrophic cardiomyopathy
Gorlin syndrome
Mowat-Wilson syndrome
Gitelman syndrome
Usher syndrome
Renal coloboma (Papillorenal) syndrome
3M syndrome
CHARGE syndrome
Joubert syndrome
Fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency



Market-exclusivity does not hinder development of orphan medicinal products for the same indication
A new article in the open-access Orphanet Journal of Rare Diseases finds that the market exclusivity incentive of the European Orphan Drug Regulation does not lead to market monopoly nor hinders the development of another orphan medicinal product for the same rare disorder. Rather, the authors identify time and/or market size as potential elements contributing to market monopoly.
Read the open-access article

13 positive opinions recommending orphan designation at the September COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 13 positive opinions recommending orphan designation at the September 2011 COMP meeting for the treatment of:

- glioma (two products)
- primary membranoproliferative glomerulonephritis
- acute myeloid leukaemia
- mucopolysaccharidosis type IIIB
- hepatocellular carcinoma
- prevention of oral mucositis in head and neck cancer patients undergoing radiation therapy
- diagnosis of gastro-entero-pancreatic neuroendocrine tumours
- glycogen storage disease type II
- prevention of fetal and neonatal alloimmune thrombocytopenia due to human platelet antigen-1a incompatibility
- mantle cell lymphoma
- hypercortisolism (Cushing syndrome) of endogenous origin
- cystic fibrosis

Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe




Fourth Myotubular Trust call for proposals – open again to international participation
The Myotubular Trust was founded as a charity in 2006 to raise money for research toward a cure and/or treatment for myotubular myopathy. There are three genetically distinct forms of myotubular myopathy. The most common and most severe form is x-linked. It usually presents in the newborn period and is characterised by breathing and swallowing difficulties in addition to general muscle weakness. The other forms, either dominant or recessive in inheritance, are usually milder and vary widely.

The Myotubular Trust announces its fourth call for proposals for projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy, focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally. Applications may be made for:
1. Project grants - Applications will be considered from the Principal Investigator for projects of 2-3 years duration to be carried out by a Post Doctoral researcher, or PHD student

2. A Myotubular Trust fellowship - Applicants will have identified a host institution and will be undertaking a basic science project of 3-4 years duration.

The Myotubular Trust encourages the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and or different research institutions. Applications which involve joint funding with other organisations will be considered. Completed applications will be due by close of business on 16 December 2011. Awards will likely be made in May-June 2012. Interested parties should visit the Myotubular Trust website for further guidance and the application form.

SMA Europe announces 4th international call for SMA research projects
Open to any research project aimed at finding a cure or therapy for Spinal Muscular Atrophy (SMA). Priority will be given to projects concentrating on the following aspects/fields:
  • Understanding and Function of the SMN Complex
  • Innovative Approaches for Therapy of SMA
  • Projects addressing bottlenecks impairing rapid transition from Basic Research to Clinics (Biomarkers and outcome measures in SMA, administration route of potential therapeutics)

  • The application deadline for projects is 7 October 2011.
    Learn more



    Two-year post-doctoral position available in the field of hereditary nephropathies and kidney development
    A two-year Inserm postdoctoral position is available starting in October 2011 in the field of hereditary nephropathies and kidney development in the group of Corinne Antignac, MD PhD, Hôpital Necker-Enfants Malades, Paris Descartes University, Imagine Foundation, Paris, France.

    The post-doc will be in charge of the identification of genes involved in hereditary NS using next-generation sequencing and of the functional characterisation of the mutations. The candidate should have a PhD within a relevant research area (e.g. cell biology or molecular genetics). Experience in human genetics and cell biology is required. Good knowledge of bioinformatics is necessary.
    Learn more




    2nd Course in Eye Genetics-EuroMediterranean University Center of Bologna
    Eye Genetics is a 4-day long postgraduate level course taking place 28 September – 1 October and addressed to both researchers and clinicians seeking an up-to-date introduction to the field of ophthalmogenetics today. It provides an overview of the clinical developments of modern genetics in different fields of ophthalmology. The topics covered in the course are: hereditary retinal diseases, genetics of retinitis pigmentosa, genetics of age related macular degeneration, genetics of myopia, genetics of glaucoma, genetics of corneal pathology, genetics of optic nerve diseases, gene therapy.
    For further details

    4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
    The University of Rostock is organising the 4th International Postgraduate Course on Lysosomal storage disorders: diagnostic background and clinical therapy to take place in Berlin, Germany from 14-15 November 2011. Scientific excellence in talks will be connected with presentations and discussion of real clinical cases embedded into a communicative and inspiring atmosphere.
    For further details

    ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
    This two-day ENERCA-ESH training course on rare red blood cell disorders will be held in Paris, France on 3-4 February 2012. The course aims at promoting harmonisation of procedures for clinical and biological diagnosis, as well as management and follow-up of patients with very rare red cell disorders, including red blood cell membrane disorders and enzymopathies, congenital dyserythropoietic anaemias, and other rare disorders of the red blood cell. The course should be of interest for biologists, haematologists, paediatricians and trainees in haematology.
    For further details

    European Cytogeneticists Association Courses
    The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2012 course (scheduled from 13-21 February) is now available.
    For further details

    Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
    The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. The 2012 Clinical Cytogenetics course has not yet been announced.
    For further details

    Master of Science in Haemoglobinopathy
    A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
    For further details

    Orphan Academy 2011 Programme
    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details




    Expanding Horizons in Friedreich Ataxia
    Date: 6 October 2011
    Venue: London, UK

    This meeting aims to increase knowledge and improve awareness of Friedreich ataxia including the clinical presentation, variant types and potential complications, disease progression, available therapies and therapeutic trials, molecular pathology and the rationale for potential therapeutic targets, and the social and psychological impact of progressive ataxia.
    For further details

    12th International Congress of Human Genetics
    Date: 11-15 October 2011
    Venue: Montreal, Canada

    The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
    For further details

    US Conference on Rare Diseases and Orphan Products
    Date: 11-13 October 2011
    Venue: Washington, DC, USA

    Bringing together stakeholders focused on rare diseases to gain a common understanding of the previous and emerging challenges and opportunities and strategies for the future. Featuring separate tracks for patients, researchers, companies, and investors, in addition to high-level plenary sessions where leading researchers, company officials, patient organisations and government leaders will discuss how the various interests can collaborate more productively.
    For further details

    European Congress on Myocardial and Pericardial Diseases
    Date: 13- 15 October 2011
    Venue: Lisbon, Portugal

    Focusing on the key contemporary issues in myocardial and pericardial diseases, the meeting includes the current state of the art management of myocardial dysfunction, aetiology and pathogenesis of inherited cardiac disease, and the role of current and merging multimodality imaging.
    For further details

    Genodermatoses in the Mediterranean - Together Against Genodermatoses
    Date: 13- 15 October 2011
    Venue: Paris, France

    Organised by the French national centre of expertise for genetic skin diseases at Necker–Enfants Malades Hospital in Paris, this event gathers specialised nurses, scientists, support-association representatives and others from the Mediterranean, Middle-Eastern, and European countries. Highlights include a satellite training course intended for specialists and paramedics to learn more about the health care of patients with inherited epidermolysis bullosa and/or ichthyosis, genetic counselling and therapeutic education.
    For further details

    Tuberous Sclerosis Complex Scientific Day
    Date: 14 October 2011
    Venue: Paris, France

    This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
    For further details

    2011 CAGC (Canadian Association of Genetic Counsellors) Annual Education Conference
    Date: 16 October 2011
    Venue : Montreal, Canada

    This one-day follows the 12th International Congress of Human Genetics (ICHG). Topics include: Genetic counselling roles in Newborn Screening; The importance of facilitating communication, and more.
    For further details

    27th Annual Meeting of the Histiocyte Society
    Date: 17-19 October 2011
    Venue: Vienna, Austria

    This year’s programme features a presentation on recent publications on Erdheim-Chester disease that have provided important new insights into the pathogenesis, classification and management of this challenging histiocytic disorder. Other sessions include LCH in adults, including a review of lessons learned from the Society’s first adult LCH trial, LCH-A1, as well as other treatment experiences, through which a consensus approach to the treatment of LCH in the adult population will be developed This year’s meeting will also focus on the Society’s soon-to-be-launched International Rare Histiocytic Disorders Registry and the opening of the LCH-IV study.
    For further details

    The 40th ESPC Symposium on Clinical Pharmacy – with a Workshop on Cross-Border Healthcare and Rare Diseases
    Date: 19-21 October 2011
    Venue: Dublin, Ireland

    This year’s programme features a special workshop on Cross-border Healthcare and Rare Diseases that will allow an exchange of ideas on the development of cross-border clinical pharmacy interventions in patients with rare diseases across Europe, considering aspects such as adherence, off-label and unlicensed use, and home treatment.
    For further details

    EPPOSI Advanced Innovation Programming Day
    Date: 20 October 2011
    Venue: Brussels, Belgium

    This event will set the priorities for EPPOSI activities for 2012 in key areas – including rare diseases.br> For further details

    1st CURE-Net International Conference for Congenital Uro-Rectal Malformations
    Date: 21-22 October 2011
    Venue: Heidelberg, Germany

    This conference we will present the preliminary results of the CURE-Net work and explore many interesting and challenging topics concerning congenital uro-rectal malformations.
    For further details

    2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
    Date: 27-28 October 2011
    Venue: Tbilisi, Georgia

    With this year’s theme: Children and Rare Diseases: From Isolation to Integration, the conference will continue the tradition of the previous South Caucasian Conference - providing the most updated information in the field of rare diseases, and giving participants an opportunity of meeting experts from all over the world.
    For further details

    Rare 2011: The Eurobiomed Meetings on Rare Diseases
    Date: 2-4 November 2011
    Venue: Montpelier, France

    This French-language event features an English-language “European Day” co-hosted by Eurobiomed and the European Union Committee of Experts on Rare Diseases (EUCERD) that will explore shared data to improve healthcare management for rare diseases.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details

    Cell Symposia: Autism Spectrum Disorders: From Mechanisms to Therapies
    Date: 9-11 November 2011
    Venue: Virginia, USA

    The aim of this meeting is to bring together key researchers working on autism spectrum disorders at multiple levels, with a specific goal of considering how current basic research findings and candidate mechanisms can be directed towards therapies and treatments.
    For further details

    Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
    Date: 16-18 November 2011
    Venue: Ottawa, Canada

    This event will allow participants to review epidemiological studies on the natural history, diagnosis and treatment of musculoskeletal congenital anomalies, particularly limb deficiencies; highlight maternal and environmental risk factors associated with susceptibility to musculoskeletal congenital anomalies; share up-to-date information on the embryology, molecular mechanisms and classification of musculoskeletal congenital anomalies, as well as key messages on the impact of living with a limb deficiency; and raise awareness of the importance of integrating congenital anomalies surveillance and research into current public health initiatives. .
    For further details

    2nd World Orphan Drug Summit
    Date: 15-17 November 2011
    Venue: Boston, Mass USA

    This commercial event will bring together industry leaders from pharma/biotech companies, patient advocacy groups, regulators, investors and insurance companies to shares approaches, challenges and successes in orphan drug development.
    For further details

    5th International Workshop on AKU (Alkaptonuria)
    Date: 18-19 November 2011
    Venue: Liverpool, UK

    Topics will include: Building clinical trials for AKU using a disease severity score index; Nitisinone, from weed killer to wonder drug; Metabolomic investigation in AKU and OA; Enzyme replacement therapy for AKU; Gene therapy for AKU; Novel biomarkers of cartilage and bone for AKU; and more.
    For further details

    6th Eastern European Conference for Rare Diseases and Orphan Drugs
    Date: 24-26 November 2011
    Venue: Istanbul, Turkey

    The general objective of the conference Eastern European Conference for Rare Diseases and Orphan Drugs is to discuss the development of policy on Rare Diseases and Orphan Drugs in Eastern European countries in comparison with the EU policy. The following plenary sessions and parallel workshops topics include: European Union Policy for Rare Diseases, Eastern European Countries Policies for Rare Diseases, Best Practices on Rare Diseases, Networks & Centers of Reference for Rare Diseases, Challenges in Diagnosis, Challenges in Treatment, Role of Industry for Orphan Drugs Development and Access to Orphan Drugs, Awareness of Medical Professionals and Health Authorities, Challenges to Patients and Families, Empowerment of Patients, Organising Patients and Families, and Awareness of Patients and the Society.
    For further details

    Sanfilippo Foundation Switzerland International Congress
    Date: 8-10 December 2011
    Venue: Geneva, Switzerland

    “Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
    For further details

    International Congress on Research of Rare and Orphan Diseases
    Date: 29 February - 2 March 2012
    Venue: Basel, Switzerland

    The Swiss-based Blackswan Foundation and Gebert Rüf Stiftung Foundation, both active in supporting research activities in Rare Diseases, are preparing an international congress of which the main topics will include Gene and cell therapy; Stem cells; Diagnostics; Therapeutic applications; and Genomic disorders. The congress will be open to scientific researchers, specialized scholars, professionals and officials.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details

    13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
    Date: 28-31 March 2012
    Venue: London, England

    This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting. Deadline for abstract submission: 30 November 2011.
    For further details

    Fourth International Meeting on Primary Central Hypoventilation Syndromes
    Date: 13-14 April 2012
    Venue: Warsaw, Poland

    The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
    For further details

    First International Symposium on the Ehlers-Danlos Syndrome
    Date: 8-11 September 2012
    Venue: Ghent, Belgium

    Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
    For further details



    Several new textbooks highlight specific rare diseases

    There are several new textbooks available concentrating on a specific rare disease or group of rare diseases. Hereditary Colorectal Cancer (Springer 2010; ISBN: 9-7814-4196-6025) provides a comprehensive reference text on the topic, containing contributions from leading experts in the field. Useful to scientists, clinicians, and genetic counsellors, amongst others. The Handbook of Pediatric Orthopedics (Thieme, 2011, ISBN: 9-7815-8890-5178) now in its second edition, allows the orthopaedic surgeon to make rapid diagnoses and plan treatment strategies for common – and rare- paediatric orthopaedic problems. The development, genetic and neurologic aetiology of various conditions is presented. Adult Acute Lymphocytic Leukemia: Biology and Treatment (Humana Press, 2010, ISBN-13: 978-1-60761-706-8) “is the only recent text solely focused on acute lymphocytic leukemia as it relates to subtypes of disease in each of the adult age groups” according to a review in the Journal of the American Medical Association. As such, it is ”“up to date and well referenced and it integrates basic, translational, and clinical science”.

    Other interesting new titles include Intellectual Disability and Ill Health: A Review of the Evidence (Cambridge University Press, 2010, ISBN-13: 978-0-521-72889-8); Craniosynostoses: Molecular Genetics, Principles of Diagnosis and Treatment (Karger, ISBN: 978-8055-9594-0); Genetics of Mental Retardation: an Overview Encompassing Learning Disability and Intellectual Disability (Karger, ISBN: 978-3-8055-9280-2); Noonan syndrome and Related Disorders (Karger; ISBN: 978-3-8055-8653-5); Neurofibromatoses (Karger; ISBN 978-3-8055-8520-0); Aneuploidy (Karger; ISBN: 978-3-8055-9736-4); and New Concepts for Human Disorders of Sexual Development (Karger; ISBN: 978-3-8055-9568-1).

    Washington Post supplement brings rare disease awareness to the general public
    In late July, Washington Post newspaper readers received a special insert in their daily paper: an 8-page supplement dedicated exclusively to rare diseases and orphan drugs. With a circulation of over half a million readers, the supplement brought awareness to the particular issues surrounding rare disease prevention, diagnostics, screening, and therapies in one fell swoop. Produced by Mediaplanet, the supplement included specific topics addressing research, screening, patient advocacy, orphan drug regulations, education and new technologies.
    Consult the supplement

    Mala Aai Vahhaychy! A story of surrogacy and disability in rural India
    A recently-released film, based on a real event, explores surrogacy, exploitation, and disability in rural India. When an American woman learns that the unborn child carried by an Indian surrogate mother could be disabled, she abandons both the mother and the pregnancy. The surrogate, who already has a disabled daughter, decides to carry the pregnancy to term and keep the infant. After the baby is born healthy, the American eventually returns and tries to claim him. The film won two awards at the Jaipur International Film Festival.
    Watch the preview


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP)

    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
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