18 April 2012 print
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Could a general rare disease guideline for health professionals help facilitate innovative strategies for working with patients?

Working from the premise that there are simply too many rare diseases identified to provide tailored guidelines for each and every one, the authors of an intriguing article published in the journal Health Policy put forward the notion that a general rare disease care guideline is needed that emphasises a flexible and innovative approach on the part of healthcare professionals, who frequently provide care and treatment for rare disease patients without a specific protocol for good clinical practice. The authors contend that health professionals (including physicians, therapists, nurses, and others) must apply novel techniques and procedures in order to deliver rare disease healthcare services that are effective. Innovative work behaviour (defined as employee-led initiation and the realisation of new ideas within a work role designed to improve role performance) is needed in the absence of specific treatment options for many rare diseases. Such innovation might involve initiating novel approaches or may build upon and adapt existing processes, services or products.

Furthermore, a general guideline that guides rare disease care and treatment could point healthcare workers toward relevant information, such as the pan-European rare disease and orphan drug informational database Orphanet, which the authors state should be “…integrated in the process of establishing treatment guidelines for rare diseases on obtaining relevant information”. The guideline could provide an overview for adopting flexible work roles, networking within a multidisciplinary team to avoid duplication, and establishing cooperation with specialised health centres and between professionals. Such arrangements could empower nurse and therapist workers occupied with the daily care and treatment processes for rare disease patients. The authors call for strengthened communication, in order to allow all healthcare professionals to “feel responsible for displaying innovative behaviour at each stage to improve patients’ long-term care”. A dedicated rare disease guideline could challenge the uncertainty stemming from an absence of specific disease standardised protocols.
Consult the PubMed abstract

EU Policy News
Pilot launched for electronic application of centralised marketing authorisation submissions
The European Medicines Agency (EMA) has launched a four-month pilot phase of electronic application forms for the submission of centralised marketing authorisation applications. The pilot will allow sponsors to use an interactive PDF form for initial marketing authorisation applications for human medicines as well as variation and renewal applications for human and veterinary medicines. The pilot moves forward the EMA's progression toward the standard use of electronic applications.
Learn more


National & International Policy Developments
Slovakia forms a national rare disease alliance

The Slovak Alliance of Rare Diseases was founded on 12 December 2011 as an umbrella organisation uniting a dozen patient organisations for rare diseases across Slovakia. Three patient organisation representatives: Ms. Beata Ramljakova for DebRA S, (the dystrophic epidermolysis bullosa research association); Mr. Radoslav Herda for Slovensky pacient (Slovak patient) and Dr. Katarina Stepankova for the Slovak Cystic Fibrosis Association initiated the collaboration and framework of the Slovak RD Alliance. Close cooperation with the National Working Group for Rare Diseases in Slovakia and the National Coordinator of Orphanet Slovakia and other professionals was established as well. The main activities and goals of the Slovak RD Alliance were presented at the First Slovak Conference on Rare Diseases, held in Bratislava on 29 February 2012. A fundamental challenge of the Slovak RD Alliance is to raise public awareness for the conditions of people with rare diseases and to participate in the formation of National Plan for Rare Diseases. One of the goals discussed by the National Coordinator of Orphanet Slovakia is the creation of a two-part booklet containing a) List and description of particular rare diseases and 2) list of characteristic signs and symptoms to promote the diagnostic process of these conditions. This document would serve as a “first aid” guide for paediatricians and physicians working on the diagnosis of rare diseases. The list and description of the first 60 rare diseases should be available by the end of 2012 and an annual update of data will be provided. Slovakia joins the growing number of countries across Europe forming national alliances for rare diseases. Such collaborations bring together individual rare disease patient groups to work together on the common goals of obtaining diagnostics, research, care, treatment and social services for rare disease patients.
Visit the Slovakia Alliance of Rare Diseases

Italian petition seeks formal recognition for a number of rare diseases presently not covered under the country’s reimbursement scheme
Under Italian legislation, the Ministry of Health Decree 279 (DM 279/01) on Rare Diseases provides specific safeguards for patients and establishes a list of rare diseases assigned an Exemption Code, qualifying them for full national health service coverage. This list has not been updated since 2001. After repeated requests to the Ministry of Health to add specific rare conditions to the list, stakeholders have joined together and are circulating a petition demanding that diseases not included under the current scheme be added in. Many of these are conditions identified in the past decade via the advancement of scientific and medical knowledge. While certain regions of the country have recognised and extended care to some diseases not included under Decree 279, rare disease patients in other regions remain without coverage for diagnostics, treatment and care. The Europe-wide petition has been launched to bring attention to this issue.
Learn more

Other European news
European Patients Academy on Therapeutic Innovation launches as an educational resource on medicinal product research and development
The European Patients' Academy on Therapeutic Innovation (EUPATI) has launched as a patient-led initiative that will develop educational material, training courses and a public Internet library to educate patient representatives and the lay public about the various processes involved in medicines development. Rare disease patient organisation stakeholders (such as Eurordis representatives) will play a prominent role in the five-year effort. Topics will include the design and conduct of clinical trials, drug safety and risk/benefit assessment, health economics, patient involvement in drug development and personalised and predictive medicine. Funded by the Innovative Medicines Initiative (IMI), EUPATI seeks to provide scientifically reliable, comprehensive information that will enable patients to serve as effective advocates and advisors in different capacities, such as working with regulatory authorities and ethics committees. Educational resources will be produced in English, French, German, Italian, Polish, Russian and Spanish languages.
Learn more

A survey of the impact of regional health care structures on diagnosis for a rare disease highlights health information technology
A German study taking Marfan syndrome as an example suggests that the quantity or density of health care resources for a rare disease may not necessarily offer an advantage in terms of time to diagnosis or adequate care. Data from 389 Marfan syndrome patients in Germany show that distance to medical health care centres did not particularly influence time to diagnosis. Indeed, “…the involvement of more physicians—who are available precisely because of the high density—might delay immediate diagnosis, as German physicians often work on a stand-alone basis. There is usually neither an institutionalized nor a systematic exchange of information, especially between in- and outpatient care providers. This asymmetry of information among physicians might therefore hinder immediate diagnosis of Marfan Syndrome, a disease with high complexity due to its syndromes in multiple organ systems. Furthermore, selection among physicians by the patient might be less efficient where the supply is more extensive”. The study suggests that enhanced networking amongst multidisciplinary physician teams is necessary for treating patients with rare diseases. Health information technology, such as electronic medical records, is seen as a plausible venue for improving quality via access and adherence to guidelines, coordinating care, and avoiding duplication.
Consult the PubMed abstract

Other International News
Report from two workshops on newborn screening efforts in the Asia Pacific Region shows determination despite elusive funding

A report on the activities around the First and Second Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region has been published in the Journal of Community Genetics. Births in the Asia Pacific region account for approximately half (68.5 million) of some 136.7 million babies born worldwide each year. About 85% are born in five countries (China, India, Indonesia, Bangladesh, Pakistan), none of which have organised screening for half or more of their newborn populations. Implementation of newborn screening programmes has been slow, primarily for economic reasons, in many countries in the region. The report demonstrates that extensive efforts in certain countries in recent years, such as Korea and Thailand, have led to implementation of universal newborn dried bloodspot screening (NDBS) at the national level. Thailand and Korea now have NDBS programmes that reach essentially all newborns. However, most other countries in the region have only begun to implement NDBS efforts in the past decade. While many of these countries have received outside funding from the same source that backed efforts in Thailand and Korea, the International Atomic Energy Agency, direct funding support of this type is no longer available. The report demonstrates that despite the unavailability of outside funding, fledgling NDBS programmes in the region continue their growth and development through self determination. The main challenges to implementing NDBS, particularly in the developing countries of the Asia Pacific Region, include financing, knowledgeable leadership, and gaining health ministry support. While some countries in the region (Australia, Hong Kong, Japan, New Zealand, Singapore) have established newborn screening mechanisms in place for their newborns, many other countries, including Bangladesh, China, India, Indonesia, Laos, Mongolia, Pakistan, Palau, Philippines, Sri Lanka, and Vietnam, have less than 50% newborn screening coverage and funding solutions remain elusive. The 2008 Cebu Declaration, emerging from the first workshop states clearly that:

In view of the United Nation’s Convention on the Rights of the Child (1989), governments must now focus increased attention on assuring our children’s optimal development and to put in place policies to ensure that tomorrow’s adults are as free as possible from disability that will limit achieving their potential. This is facilitated by early screening for congenital genetic disorders that are responsible for major disability; if not treated early, the costs of treatment of preventable disability will be prohibitive for society and the lives of children and their families will be tragically and unnecessarily limited. Systematic newborn screening for these genetic disorders is, thus, a necessity for public health programs based on the resources available.

As an important tool in the prevention of disease and disability in children, newborn screening should be a key part of a comprehensive public health system, with each country prioritising the panel of screening disorders and system of care appropriate to their situation.

The report contains the observation that, “While out-of-country laboratories can play a significant role in screening implementation, their activities have the potential to negatively impact a fledgling national program. This sometimes occurs when academic laboratories pursue newborn screening research agendas in particular locations (usually with a local academic institution) without proper attention to, or arrangements for, data sharing with an ongoing national implementation effort. The competitive environment thus created has the potential for slowing national progress in favor of local availability. Developed programs seeking to assist developing ones must be careful to create training activities that lead to infrastructure development so that services can be transitioned from the developed program to the developing. In this way, developing programs can take advantage of already ongoing developed screening efforts and more rapidly implement and expand their own programs”.
Learn more

Canada’s rare diseases are lost in the wilderness when it comes to research
A convincing commentary appearing in the journal Open Medicine laments the impact the lack of a specific policy for rare diseases and/or orphan drug development and reimbursement has on the field of research in Canada. Pointing out that Canada is “one of only a few developed countries without a national orphan drug program to protect patients with rare diseases from exorbitant drug costs” the author calls into question the research gap existing for rare disease and orphan drug studies in Canada. Indeed, Canada had no funding call specific to rare diseases until 2011 and remains without a specific policy addressing rare disease research, including drug development incentives and patient access to orphan medicinal products. Canada’s current federal-provincial Health Accord, which expires in 2014, presents a window of opportunity for introducing “provisions for a federally designed rare disease strategy to be tied to provincial funding”. Evoking society’s moral obligation to protect each individual’s rights and the principle of “non-abandonment” that allows Canadians timely access to health services “on the basis of need, not ability to pay” the author concludes that “… a right to effective and high-quality care cannot be fulfilled without addressing the fundamental gap in access to scientific advancement and research in rare diseases” .
Consult the open-access article

Bioinformatics, Registries and Data Management
New research programme gathers genetic and clinical data on children born with cleft lip and/or palate

A five-year research programme, dubbed “the biggest single investment in cleft research anywhere in the world” has launched in the United Kingdom. Cleft Collective will establish the largest DNA gene bank to gather data from children born with cleft lip and/or palate in the UK and follow their development through adulthood. Funded by UK charity the Healing Foundation, and hosted by the Universities of Bristol and Manchester, the Cleft Collective is inviting families who wish to participate to register with the project. Cleft lip and/or palate is an isolated, non-syndromic anomaly in 70% of cases and the remaining 30% of cases are seen in some 300 syndromes. In a press release, Professor Jonathan Sandy, lead researcher for the Bristol gene bank, said: “Children born with cleft often face unique challenges. These include speech and language issues, educational difficulties and broader health concerns. We do not know if these problems are caused by the genes that may be responsible for cleft or by other factors, such as lifestyle or ‘environmental’ factors. This study will help answer these important questions and could also solve the ultimate mystery of what causes cleft in the first place”. The University of Manchester is also hosting a National Clinical Trials Unit for cleft that will coordinate National Health Service based clinical research, improving surgical procedures, therapies and care.
Learn more about Cleft Collective

To read more about "Cleft lip/palate"

What to do with incidental findings in biobanks and other archived genetic datasets?
Recommendations from a two-year project funded by the USA’s National Institutes of Health (NIH) around Incidental Findings (IFs) and Individual Research Results (IRRs) from structured collections (biobanks, biorepositories and databases) generating and housing genetic and genomic data are offered in this special article appearing in Genetics in Medicine. The recommendations follow a previous project offering analysis and recommendations for researchers and Institutional Review Boards involving the discovery of IFs that have potential health or reproductive significance for research participants. This follow-on report looks at such findings in the context of biobanks and similar structures of large-scale genetic and/or genomic research and in particular considers “the ethical underpinning of responsibilities … in a biobank research system to collaborate in handling IFs and IRRs”. The authors offer “systemic analysis of how the responsibilities can best be discharged both in new biobank research systems considering these problems prospectively and in preexisting research systems”. Ten concrete recommendations for handling IFs and IRRs in the context of biobank-type structures are put forward.
Consult the PubMed abstract


Ethical, Legal & Social Issues
The unique position of the rare disease patient - and the treating physician - in the patient-physician role
Because of scattered knowledge and expertise for many rare diseases, patients and their families are frequently obliged to gather information themselves concerning many aspects of their conditions. This position of the “patient-expert” can be juxtaposed against empirical research demonstrating that severely ill patients and their families prefer their physician to “dominate decision processes and provide the information needed”. This recent article appearing in Health Policy examines the shift away from traditional roles occurring often for both the rare disease patient/family and for their health professionals. Rare disease patients and/or their families are frequently in the unique position of being their own experts while their treating physicians take on a role of “partner” in the professional relationship. The authors describe how “…in the context of rare diseases, role discrepancies arise: physicians had to cope with lacking, insufficient or ambiguous knowledge. Patients also found themselves in a dilemma. Although they approached the physician to receive help, they were forced to assume the expert role and provide information to the physician”. This qualitative study reveals that in the field of rare diseases, “… both patients and physicians are involved in an ongoing process of actively creating, adapting and modifying their roles based on the situation and their mutual expectations”. The ensuing “role discrepancies” can have a major impact on medical interaction processes and this study highlights the challenges and problems rare disease patients face. The authors call on policy makers to recognise the unique needs of rare disease patients in information seeking and accessing specialists.
Consult the PubMed abstract


Orphanet News
Orphanet is well LOVD with a new link to its gene pages

LOVD, the Leiden Open Variation Database, is a freely available, flexible, web-based open source database tool for gene-centered collection and display of DNA variations. The LOVD platform has now been updated to link to Orphanet’s gene pages. This achievement will help diffuse more widely Orphanet’s rich store of information on rare diseases.
Learn more about LOVD

Results of the 2011 Orphanet satisfaction survey now available
Orphanet, the pan-European information portal for rare diseases and orphan drugs conducted an on-line satisfaction survey in December 2011 consisting of a brief questionnaire available in the six languages of the website (English, French, German, Italian, Portuguese and Spanish). Questions focused on the survey respondents’ professional activities, their usage of the Orphanet website, opinion of the site content, and suggestions for improvement. The results from the English-language survey are now available. Consistent with the 2010 figures, the various site users, including health care professionals, researchers, members of the biopharmaceutical industry, and patients expressed global satisfaction with Orphanet’s ability to meet their specific needs.
View the results


New Syndromes

A new syndrome due to a germline mutation in PIGA
The authors report a family with cleft palate, neonatal seizures, contractures, central nervous system structural malformations, and other anomalies observed in three males suggesting an X-linked inheritance. They identified a phosphatidylinositol glycan class A (PIGA) mutation segregating with this phenotype and similar to the somatic PIGA mutations resulting in paroxysmal nocturnal hemoglobinuria, an acquired clonal hematopoietic stem cell disorder. PIGA is involved in the first step of glycosylphosphatidylinositol biosynthesis and until now its germline mutations were known to be embryonic lethal. Because the three patients of this study have lived a few weeks, the authors concluded that the mutated PIGA gene identified here has residual function allowing survival after birth and that understanding the germline phenotype of PIGA mutations will clarify the role of this gene in development and hematopoiesis.
Read the PubMed abstract

Am J Hum Genet ; 295-300 ; 10 February 2012
Four cases presenting with unusual phenotype including peripheral nerve tumors, marfanoid habitus and distinct facial features
Four unrelated female patients with peripheral nerve sheath tumors included in a clinical picture that does not match any known familial tumor syndrome are reported. They exhibited multiple painful neurofibromas, such as bilateral orbital plexiform neurofibromas, spinal and mucosal neurofibromas, associated with enlarged corneal nerves, a neuronal migration defects, marfanoid habitus and distinct facial features. The authors found no mutations in the genes they analyzed because of their involvement in neurogenic tumors, i.e. NF1, NF2 and SMARCB1 involved in some neurofibromatosis, RET involved in the multiple endocrine neoplasia type 2B, PRKAR1A involved in carney complex, PTEN involved in PTEN hamartoma tumour syndrome and other RAS-pathway genes. Therefore they suggested they were encountering a new syndrome.
Read the PubMed abstract

Eur J Hum Genet ; Epub ahead of print ; 18 January 2012
Bilateral congenital cataract and cleft palate in a family: a new syndrome?
Studying four generations of a family, the authors have identified 21 members presenting with congenital bilateral cataract with or without cleft palate. Genetic analysis performed in 4 brothers and sisters and their mother, all affected by both anomalies, revealed an amplification in Xp21.1 in all cases but one and in a healthy sister. The authors suggest that this genetic anomaly could induce a deleterious effect, and may be a copy number polymorphism causing a new syndrome.
Read the PubMed abstract

Br J Oral Maxillofac Surg ; Epub ahead of print ; 5 December 2011
Onychocytic matricoma: a new matrical tumour of the nail
The authors report five cases with a new matrical tumour of the nail that is an acanthoma of the nail matrix producing onychocytes that they named onychocytic matricoma. The authors propose the term pachymelanonychia longitudinal in order to specify the two clinical features of this tumor: a localised thickening of the nail plate (pachyonychia) and a longitudinal pigmented band (melanonychia). The lesion displays three major characteristics: it is acanthotic, papillomatous and keratogenous with retarded maturation.
Read the PubMed abstract

Am J Dermatopathol ; 54-59 ; February 2012

New Genes

Mitochondrial diseases: mutations of NDUFB3 and AGK respectively involved in complex 1 deficiency and Sengers syndrome
Consult the PubMed abstract
To read more about "Isolated NADH-CoQ reductase deficiency"
To read more about "Cataract - cardiomyopathy"

Sci Transl Med ; 118ra10 ; 25 January 2012
Am J Hum Genet ; 314-320 ; 10 February 2012
Pseudohypoaldosteronism type 2: role for KLHL3 and CUL3 in blood pressure, K+ and pH homeostasis
Consult the PubMed abstract
To read more about "Pseudohypoaldosteronism type 2"

Nature ; 98-102 ; 02 February 20122
Ehlers-Danlos syndrome: mutations in FKBP14 cause a variant sharing many features with the kyphoscoliotic type
Consult the PubMed abstract
To read more about "Ehlers-Danlos syndrome, kyphoscoliotic type"

Am J Hum Genet ; 201-216 ; 10 February 2012
X-linked megalocornea: involvement of mutations in CHRDL1 highlights an essential role for ventroptin in anterior segment development
Consult the PubMed abstract
To read more about "Isolated congenital megalocornea"

Am J Hum Genet ; 247-259 ; 10 February 2012
Genitopatellar syndrome: 11 cases due to de novo mutations in KAT6B suggesting a dysregulation of histone acetylation during development
Consult the PubMed abstract
To read more about "Genitopatellar syndrome"

Am J Hum Genet ; 282-289; 290-294. ; 10 February 2012
Familial congenital mirror movements: unexpected role of RAD51 in neurodevelopment
Consult the PubMed abstract
To read more about "Familial congenital mirror movements"

Am J Hum Genet ; 301-307 ; 10 February 2012
Floating-Harbor syndrome: mutations in SRCAP are the major cause and explain clinical overlap with Rubinstein-Taybi syndrome
Consult the PubMed abstract
To read more about "Floating-Harbor syndrome"

Am J Hum Genet ; 308-313 ; 10 February 2012
Congenital stationary night blindness: a recessive form due to mutations in GPR179
Consult the PubMed abstract
To read more about "Congenital stationary night blindness"

Am J Hum Genet ; 321-330; 331-339 ; 10 February 2012
Tylosis-oesophageal carcinoma: a RHBDF2 dysregulation that might be similar in sporadic esophageal squamous cell carcinomas
Consult the PubMed abstract
To read more about "Keratosis palmoplantaris - esophageal carcinoma"

Am J Hum Genet ; 340-346 ; 10 February 2012
Autosomal dominant microcephaly with lymphedema and chorioretinopathy: mutations in KIF11 suggesting a role of EG5 in CNS development
Consult the PubMed abstract
To read more about "Autosomal dominant chorioretinopathy - microcephaly"
To read more about "Microcephaly - lymphedema - chorioretinopathy"

Am J Hum Genet ; 356-362 ; 10 February 2012
Congenital disorders of glycosylation: mutations in DDOST decrease N-glycosylation
Consult the PubMed abstract
To read more about "CDG syndrome"

Am J Hum Genet ; 363-368 ; 10 February 2012
Mandibulofacial dysostosis with microcephaly: haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 at cause
Consult the PubMed abstract
To read more about "Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate"

Am J Hum Genet ; 369-377 ; 10 February 2012
Herpetic encephalitis can be underlain by immune deficiency due to TRIF mutations
Consult the PubMed abstract
To read more about "Herpetic encephalitis"

J Clin Invest ; 4889-4902 ; December 2011
Hereditary spastic paraplegia: mutations found in RTN2 involve the endoplasmic reticulum morphogenesis
Consult the PubMed abstract
To read more about "Familial spastic paraplegia"

J Clin Invest ; 538-544 ; February 2012
Rotor syndrome: mutations affecting OATP1B1 and OATP1B3 interrupt bilirubin hepatic reuptake and may cause drug hypersensitivities
Consult the PubMed abstract
To read more about "Rotor syndrome"

J Clin Invest ; 519-528 ; February 2012
Idiopathic CD4 lymphocytopenia: a mutation in Unc119 impairs TCR signaling in one patient
Consult the PubMed abstract
To read more about "Idiopathic CD4 lymphocytopenia"

Blood ; 1399-1406 ; 9 February 2012
Autosomal dominant limb-girdle muscular dystrophy type 1D/1E: a mutation in the desmine gene, located on chromosome 2, is responsible
Consult the PubMed abstract
Ann Neurol ; 141-145 ; January 2012
Sotos syndrome: mutations in the DNA-binding/dimerization domain of NFIX associated with the main features of the disease
Consult the PubMed abstract
To read more about "Sotos syndrome"

J Hum Genet ; Epub ahead of print ; 2 February 2012
Wiskott-Aldrich syndrome: WIP deficiency induces WAS protein instability
Consult the PubMed abstract
To read more about "Wiskott-Aldrich syndrome"

J Exp Med ; 29-34 ; 16 January 2012
Squamous cell carcinoma of head and neck is frequently linked to an activation of the EGFR/PI3K pathway due to a deletion of PTPRS
Consult the PubMed abstract
To read more about "Squamous cell carcinoma of head and neck"

PNAS ; 19024-19029 ; 22 November 2011
Pentosuria: 2 mutations identified in DCXR
Consult the PubMed abstract
To read more about "Pentosuria"

PNAS ; 18313-18317 ; 8 November 2011

Research in Action

Retrospective outcome studies for orphan conditions are almost as rare as the diseases themselves…
Spurred by the publication of two separate retrospective outcome studies (both involving subependymal giant cell astrocytomas) appearing in Current Medical Research and Opinion, an editorial article in the same issue champions the potential benefits of the retrospective outcome study design for furthering knowledge of clinical, health, and economic outcomes in the field of rare diseases, and offers up several strategies for successfully undertaking such trials. Observing the relative scarcity of such studies for orphan diseases, the authors contend that retrospective outcome studies offer several practical advantages, including smaller budgets (in comparison to prospective studies) as well as “…quick turn-around time, and better real-world representation”. Despite existing challenges, including funding, gaps in epidemiological data, diagnostic issues, inadequate disease classification systems, and an assortment of problems related to small sample sizes, the authors identify several benefits to retrospective outcome studies - and urge researchers to “take advantage of the emerging opportunities to conduct and publish more retrospective outcomes studies for orphan diseases” citing their capacity to provide “important real-world insights into orphan diseases, including how they are being treated”.
Consult the PubMed abstract

Fundamental Research
Amyotrophic lateral sclerosis: mutations found in TAF15 suggest a broad contribution of aggregation-prone RNA-binding proteins
Consult the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

PNAS ; 20881-20890 ; 27 December 2011
Amyotrophic lateral sclerosis: D-Amino acid oxidase controls motoneuron degeneration through D-serine
Consult the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

PNAS ; 627-632 ; 10 January 2012
Hypoxic pulmonary hypertension: digoxin attenuates the pulmonary vascular effects of chronic hypoxia in mice
Consult the PubMed abstract
To read more about "Pulmonary hypertension owing to lung disease and/or hypoxia"

PNAS ; 1239-1244 ; 24 January 2012
Bardet-Biedl syndrome: differences between mouse models suggest that each BBS protein has a specific function different from that of BBSome
Consult the PubMed abstract
To read more about "Bardet-Biedl syndrome"

PNAS ; 20678-20683 ; 20 December 2011
Spastic ataxia, Charlevoix-Saguenay type: abnormalities of the dynamics of mitochondrial compartment preceding Purkinje cell death in mice
Consult the PubMed abstract
To read more about "Spastic ataxia, Charlevoix-Saguenay type"

PNAS ; 1661-1666 ; 31 January 2012
Mitochondrial cardiomyopathy: the effects of a ketogenic diet in mice demonstrate a connection between mediator complex and oxidative phosphorylation
Consult the PubMed abstract
To read more about "Mitochondrial disease with dilated cardiomyopathy"

PNAS ; 19678-19682 ; 6 December 2011
Ataxia-telangiectasia: the gene loss responsible for T-cell malignancies also induces mitochondrial dysfunction
Consult the PubMed abstract
To read more about "Ataxia-telangiectasia"

Blood ; 1490-1500 ; 9 February 2012
Clinical Research
Systemic juvenile idiopathic arthritis: promising treatment trial with Canakinumab, a human anti-interleukin-1 β antibody
Consult the PubMed abstract
To read more about "Idiopathic juvenile-onset systemic arthritis"

Arthritis Rheum ; 557-567 ; February 2012
Refractory granulomatosis with polyangiitis: efficacy of rituximab, notably on vasculitic manifestations
Consult the PubMed abstract
To read more about "Wegener granulomatosis"

Ann Rheum Dis ; 327-333 ; March 2012
Pompe disease: tolerance induction to enzyme replacement therapy in 4 infant patients
Consult the PubMed abstract
To read more about "Glycogen storage disease type 2"

Genet Med ; 135-142 ; 10 January 2012
Sanfilippo disease: no clinical efficacy with genistein at 10mg/kg/day
Consult the PubMed abstract
To read more about "Mucopolysaccharidosis type 3"

Ann Neurol ; 110-120 ; January 2012
Dementia in adults older than 40 years with Down syndrome: no improvement with a treatment effective for Alzheimer disease
Consult the PubMed abstract
To read more about "Down syndrome"

Lancet ; 528-536 ; 11 February 2012
Primary biliary cirrhosis: beneficial immunological and biochemical effects of rituximab in patients who respond poorly to ursodeoxycholic acid
Consult the PubMed abstract
To read more about "Primary biliary cirrhosis"

Hepatology ; 512-521 ; February 2012
Neurofibromatosis type 1: patients show low bone mineral density and a bad response in vitro to biphosphonates used against osteoporosis
Consult the PubMed abstract
To read more about "Neurofibromatosis type 1"

Bone ; 798-803 ; March 2012
Paediatric pulmonary hypertension: a specificity that requires taking into account pediatric data rather than extrapolating from adult cases
Consult the PubMed abstract
To read more about "Rare pulmonary hypertension"

Lancet ; 537-546 ; 11 February 2012
Primary immunodeficiency: 2011 update of the internet-based patient and research database network of the European Society for Immunodeficiencies
Consult the database
Consult the PubMed abstract

To read more about "Primary immunodeficiency"

Clin Exp Immunol ; 479-491 ; March 2012
Endometrial stroma sarcoma: excellent 5-year overall survival but relapses justify systemization of adjuvant treatment
Consult the PubMed abstract
To read more about "Endometrial stromal sarcoma"

Int J Radiat Oncol Biol Phys ; Epub ahead of print ; 31 January 2012
Autoimmune liver diseases: increased mortality due to liver-related death and higher cancer risk with AIH and PSC
Consult the PubMed abstract
To read more about "Chronic autoimmune hepatitis"
To read more about "Primary sclerosing cholangitis"
To read more about "Primary biliary cirrhosis"

Hepatology ; 522-529 ; February 2012
Charcot-Marie-Tooth disease type 1: copy number mutations in MPZ disturb myelination
Consult the PubMed abstract
To read more about "Charcot-Marie-Tooth disease type 1"

Ann Neurol ; 84-92 ; January 2012
Trisomies 13, 18 and 21: screening with DNA sequencing of circulating fetal cells of maternal plasma is reliable and reduces fetal loss risk
Consult the PubMed abstract
To read more about "Down syndrome"
To read more about "Trisomy 13"
To read more about "Trisomy 18"

Genet Med ; 296-305 ; March 2012
Inherited cardiomyopathy: a focus on the genetic basis, models of pathogenesis associated with known mutations, and genetic testing
Consult the PubMed abstract
To read more about "Familial hypertrophic cardiomyopathy"
To read more about "Familial isolated arrhythmogenic right ventricular dysplasia"
To read more about "Familial restrictive cardiomyopathy"
To read more about "Familial dilated cardiomyopathy"

Eur Heart J ; 296-304 ; February 2012
Cancer in pregnancy: a challenging conflict of interest between the mother's health and that of the fetus
Consult the PubMed abstract
Lancet ; 558-569; 570-579; 580-587 ; 11 February 2012
Primary angiitis of the central nervous system: a comprehensive comparison of childhood and adult forms
Consult the PubMed abstract
To read more about "Primary angiitis of the central nervous system"

Nat Rev Rheumatol ; 97-107 ; February 2012
Stem Cells

Duchenne muscular dystrophy: myogenic cells obtained from mesenchymal stromal cells graft in a dog model
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther ; 168-177 ; January 2012
Marfan syndrome: patient-specific induced-pluripotent stem cells can provide a human MFS model
Consult the PubMed abstract
To read more about "Marfan syndrome"

PNAS ; 215-220 ; 3 January 2012
Human embryonic stem cells: a tendency to genomic instability calls for additional quality control
Consult the PubMed abstract
J Clin Invest ; 569-574 ; 1 February 2012
Malignant hyperthermia can be prevented by AICAR in mice with RYR1 mutation
Consult the PubMed abstract
To read more about "Malignant hyperthermia"

Nat Med ; 244-251 ; February 2012
Rubinstein-Taybi syndrome: growth factor BMP2/7 supplementation in utero partially reverses skeletal defects in mice
Consult the PubMed abstract
To read more about "Rubinstein-Taybi syndrome"

J Clin Invest ; 91-106 ; 3 January 2012
Gene Therapy
Duchenne muscular dystrophy: a translational optimized vector and restoration of functional dystrophin with exon skipping therapy
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther ; 443-455; 462-467 ; February 2012
Congenital factor VII deficiency: perinatal AAV-mediated gene transfer results in therapeutic levels of FVII in mice and monkeys
Consult the PubMed abstract
To read more about "Congenital factor VII deficiency"

Blood ; 957-966 ; 26 January 2012
Pompe disease: spinal delivery of AAV vector encoding acid α-glucosidase restores enzyme activity and increases ventilation in mice
Consult the PubMed abstract
To read more about "Glycogen storage disease type 2"

Mol Ther ; 21-27 ; January 2012
Mucopolysaccharidosis type 3A: liver production of sulfamidase reverses glycosaminoglycan storage in somatic tissues and ameliorates CNS pathology in mice
Consult the PubMed abstract
To read more about "Sanfilippo syndrome type A"

Mol Ther ; 254-266 ; February 2012
Inherited retinopathies: an overview of gene therapies targeting the primary genetic defect or the associated effects
Consult the PubMed abstract
To read more about "Retinal dystrophy"

Gene Ther ; 137-144; 154-161 ; February 2012
Retinitis pigmentosa: recent developments, potential and limitations of optogenetic therapy
Consult the PubMed abstract
To read more about "Retinitis pigmentosa"

Gene Ther ; 169-175 ; February 2012
Therapeutic Approaches

Hereditary sensory and autonomic neuropathy type 1: oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids
Consult the PubMed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 1"

J Clin Invest ; 4735-4745 ; December 2011
Cushing disease: inhibition of EGFR signaling opens new therapeutic perspectives
Consult the PubMed abstract
To read more about "Cushing disease"

J Clin Invest ; 4712-4721 ; December 2011
Huntington disease: stimulation of the PPAR-PGC-1 α axis has neuroprotective effect
Consult the PubMed abstract
To read more about "Huntington disease"

Hum Mol Genet ; 1124-1137 ; March 2012
Gaucher disease: histone deacetylase inhibitors restore activity of glucocerebrosidase by preventing its degradation
Consult the PubMed abstract
To read more about "Gaucher disease"

PNAS ; 21200-21205 ; 27 December 2011

Patient Management and Therapy
Marfan syndrome: guidance for evaluation and diagnosis of individual with some features of the disease
Consult the PubMed abstract
To read more about "Marfan syndrome"

Genet Med ; 171-177 ; January 2012
A review of Lyme disease
Consult the PubMed abstract
To read more about "Lyme disease"

Lancet ; 461-473 ; February 2012
Hereditary angioedema: an overview with specific emphasis on the new treatments of acute swellings
Consult the PubMed abstract
To read more about "Hereditary angioedema"

Lancet ; 474-481 ; 4 February 2012
Chordoma: current standards in diagnosis, management, and future directions
Consult the PubMed abstract
To read more about "Chordoma"

Lancet Oncol ; e69-e76 ; February 2012
Rare adipose disorders: not to be confused with lipodystrophies
Consult the PubMed abstract
To read more about "Familial symmetric lipomatosis"
To read more about "Adiposis dolorosa"
To read more about "Lipedema"

Acta Pharmacol Sin ; 155-172 ; February 2012
Hepatocellular carcinoma: 37 statements and recommendations for liver transplantation
Consult the PubMed abstract
To read more about "Hepatocellular carcinoma"

Lancet Oncol ; e11-e22 ; January 2012
A review of posterior cortical atrophy
Consult the PubMed abstract
To read more about "Posterior cortical atrophy"

Lancet Neurol ; 170-178 ; February 2012

Orphan Drugs

Regulatory News
The month of March proves lucky with thirteen positive opinions for orphan designation from the COMP

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted thirteen positive opinions recommending orphan designation at the March 2012 COMP meeting for the treatment of:

- Duchenne muscular dystrophy (three products)
- haemophilia A
- myelodysplastic syndromes
- chronic lymphocytic leukaemia
- ovarian cancer
- acute liver failure
- neurofibromatosis type 2
- systemic sclerosis
- retinitis pigmentosa
- acute myeloid leukaemia
- soft tissue sarcoma

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

Political and Scientific News
The impact of clinical pharmacology on orphan drug development
A recent US Food and Drug Administration (FDA) Advisory Committee meeting considered the impact of clinical pharmacology on the development of treatments for rare diseases. A report of their findings is available in Nature Reviews: Drug Discovery. Analysing the number of clinical pharmacology studies amongst the orphan drugs approved in the USA between 2006 and 2010, the study finds that a total of 33 new molecular entities received FDA approval for orphan indications. Of these, ten were in the area of oncology, six were for conditions relating to inborn errors of metabolism, there were four each in the areas of neurology and rheumatology, three in the area of haematology, and one each in the areas of analgesia/anesthesia, cardiovascular, endocrine, medical imaging, and pulmonary. The 33 approvals represent 30 separate indications. Approximately one-third (10 of 33) of the products were biologics.

The analysis reveals that the bulk of drug development targeted diseases with a prevalence of less than 100,000 (with a median prevalence of ~43,000). The USA defines a rare disease as one affecting less than 200,000 of the total population in the country. The authors evoke the interesting paradox regarding the information required in the development of drugs for orphan/rare diseases: “Although the absolute number of subjects in an orphan product program may be very small, it may nevertheless represent a large percentage of the total patient population with the indication or disease for which the product is meant”. The analysis of the 33 applications reviewed shows that there is variation in the number and composition of the clinical pharmacology programmes. The authors assert that the FDA "has exercised its authority to tailor development programs to meet the specific needs of the target population for these orphan products while still maintaining a standard of safety and efficacy".

The authors emphasise that the FDA makes available copies of the labeling and review packages from all drug approvals. “Recent and earlier drug approvals are thus readily available for study as to the types of questions being asked in successful drug development programs, along with the types and number of studies used to support approval. Although data for individual subjects and some aspects of the review are redacted, one cannot underestimate the value of examining these documents as exemplars of drug development. For those engaged in the development of drugs for rare conditions and diseases, these reviews can be especially helpful in delineating the necessary questions to be asked and in designing appropriate studies. Unfortunately, the public database includes only the reviews pertaining to approved applications. It is likely that as much, or possibly more, could be learned from reviews of drug development programs that were not successful and remain confidential”.
The drug approval labeling and review packages are available at Drugs@FDA
Consult the PubMed abstract


Courses & Educational Initiatives

The European School of Genetic Medicine celebrates its 25th anniversary with special courses
The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open, including the Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012) and the 25th Course in Medical Genetics (20-25 May 2012). All ESGM courses can be followed live on the Internet through webcasting.
For further details

OroDysmorphology Course
The first OroDysmorphology course is being held on 24 May 2012 within the context of the 11th Congress of the European Academy of Paediatric Dentistry. Taking place in Strasbourg, France, this pre-congress course will gather European and world experts in the field of syndrome diagnosis and dysmorphology focusing on the oral cavity. The paediatric dentist can contribute to the dysmorphology approach and analysis of a patient/family affected by a syndrome or a rare disease by analysing carefully dental/orofacial malformations, liaising and interacting with the genetic and other health professionals team managing the patient. This hands-on course will allow participants to present and discuss their own cases in front of the expert panel and to benefit from brainstorming and collegial expertise in syndrome and orodental anomalies diagnosis. Therapeutic management of selected cases will be also discussed.
For further details

Summer School for Clinical practice guidelines on rare diseases
This course, consisting of brief presentations followed by individual or small group exercises, will take the participants through the development process for clinical practice guidelines, covering the following topics: Identify key clinical issues to be included (scope) ; Developing review questions using PICO and PIPOH and planning the systematic review; Identifying the evidence: formulating, executing and documenting a search strategy; Assessing quality of relevant studies, summarize and interpreting the body of evidence to make recommendations; Lack of evidence on guidelines development: formal consensus (Delphi-like method); Appraisal of synthesis documents: guidelines and systematic reviews; and more. The course will be of benefit for guideline developers and health care professionals interested in learning how to use evidence in practice. Learn more
Epidermolysis Bullosa – An Introduction and Advanced Management courses
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
The Sixth Clinical Cytogenetics course will be held from 15-21 September 2012 at the Goldrain Castle in South Tyrol (Italy). The lectures are aimed at both clinicians and cytogeneticists who have strong mutual interests in both fields. To best profit from the lectures and exercises, participants should have at least one year of practical experience in laboratory and/or clinical cytogenetics. The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2012, 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.
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 2012 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


What's on Where?

World Pulmonary Hypertension Day-Scientific Symposium
Date: 4-5 May 2012
Venue: Madrid, Spain

Topics include Advances in genetics and early diagnosis; Advances in research; Multidisciplinary support for patients; and more.
For further details

8th International Congress on Autoimmunity
Date: 9-13 May 2012
Venue: Granada, Spain

Updating physicians, immunologists, rheumatologists, researchers and clinicians interested in autoimmune diseases with the latest available diagnostic tools and new therapeutic avenues. Autoimmunity 2012 provides a key platform for those in search of cures to these diseases, to collaborate, exchange information and to network.
For further details

CILIA 2012 - Cilia in Development and Disease
Date: 16-18 May 2012
Venue: London, UK

Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
For further details

Sixth International Alkaline Phosphatases Symposium
Date: 16-19 May 2012
Venue: Huningue, France

This upcoming symposium will highlight the wealth of clinical data that has been obtained on the management of hypophosphatasia patients, while also discussing new information about other pathophysiological conditions related to alterations in alkaline phosphatases structure and function.
For further details

12th International Conference on Myasthenia Gravis and Related Disorders
Date: 21-23 May 2012
Venue: NY, USA

The Myasthenia Gravis Foundation of America and the New York Academy of Sciences present this 12th international conference to galvanize efforts among researchers studying autoimmune and neuromuscular junction disease and to encourage continued progress in the diagnosis and treatment of MG that will help to improve patient outcomes and quality of life. This 3-day international conference will feature topics that span basic, translational, and clinical neuroscience and immunology related to MG and other autoimmune and neuromuscular junction disorders.
For further details

6th European Conference on Rare Diseases & Orphan Products
Date: 23-25 May 2012
Venue: Brussels, Belgium

The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian.
For further details

Symposium on Neurocognitive Developmental Disorders
Date: 25 May 2012
Venue: Rotterdam, Netherlands

This symposium on rare neurodevelopmental disorders related to the mTOR pathway is organised in collaboration with ENCORE (Center for Hereditary Neurocognitive Developmental Rotterdam Erasmus MC) and Novartis Oncology.
For further details

5th International Conference on Ectodermal Dysplasia (ED2012)
Date: 1-3 June 2012
Venue: Erlanger, Germany

The ectodermal dysplasias are a large, heterogeneous group of hereditary disorders characterized by defective formation of tissues derived from embryonic ectoderm. ED2012 will provide a forum for multidisciplinary discussions on treatment paradigms as well as innovative approaches to improving the lives of patients with ectodermal dysplasia.
For further details

2nd Annual Orphan Drug Congress 2012
2012 Date: 7-8 June 2012
Venue: Barcelona, Spain

Key topics for this commercial event include: Successful development plan for Orphan Drugs; Regulatory challenges surrounding Orphan drug development; Developing patient registries; Commercial aspects of orphan drug development; and the patient perspective.
For further details

1st European Conference on Aniridia
Date: 8-10 June 2012
Venue: Oslo, Norway

The Norwegian Association of Aniridia is hosting the first international, medical conference on the rare eye disease Aniridia. International experts within the fields of ophthalmology, genetics and paediatrics will present their latest findings.
For further details

10th International Primary Hyperoxaluria Workshop
Date: 22-23 June 2012
Venue: Bonn, Germany

A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hyperoxaluria.
For further details

7th World Rett Syndrome Congress
Date: 22-26 June 2012
Venue: Paris, France

This global meeting, orchestrated by leading Rett syndrome scientists, clinicians, educators, and family representatives, consists of four distinct meetings over the course of four days. All professionals including researchers, clinicians, allied health practitioners, educators, parents, family members and caregivers will benefit from the meaningful series of sessions and tracks.
For further details

European Human Genetics Conference 2012
Date: 23-26 June 2012
Venue: Nurnberg, Germany

A rich programme awaits participants. Symposia include: The molecular basis of facial malformations; Mechanisms and consequences of chromosomal/genetic mosaicism; Primary microcephaly; and much more. Educational sessions include Next-generation sequencing diagnostics; Trinucleotid repeat disorders and more. Plenary sessions include: Targeted pharmacological therapies in genetic disorders (with presentations on Marfan, tuberous sclerosis complex and fragile X); and more.
For further details

11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
Date: 26-29 June 2012
Venue: Rotterdam, Netherlands

Featuring the session Rare Diseases and Orphan Drugs: ethical aspects. Key themes include: Public health ethics; Clinical ethics; Biobanks; Ethics and research and much more.
For further details

European Working Group on Gaucher Disease Meeting
Date: 28-30 June 2012
Venue: Paris, France

The quality of the scientific content at the EWGGD meetings attracts an increasing number of participants with each edition. Participants are recognized experts in their fields, committed to both clinical and basic science in Gaucher disease. New results from basic science, clinical trials and registries will be announced during the meeting. Updated guidelines for the management of Gaucher disease will be released, taking into account the experience of different teams in various countries. A practical session and workshop, dedicated to nurses and paramedics with the objective of better integrating their crucial role in patient management through medical education, based on new practices such as home therapy, will be held.
For further details

World Federation of Hemophilia World Congress
Date: 8-12 July 2012
Venue: Paris, France

The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
For further details

Retina International World Congress
Date: 14-15 July 2012
Venue: Hamburg, Germany

This congress, held every two years, includes: the latest information on diagnostics, therapy and disease management in diseases such as retinitis pigmentosa, AMD, Usher syndrome, Bardet-Biedl syndrome, Stargardt’s disease, Cone-rod dystrophy, and more; the latest in international research, and much more.
For further details

3rd Annual Orphan Drug Summit
Date: 25-26 July 2012
Venue: London, UK

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

7th European Elastin Meeting
Date: 1-4 September 2012
Venue: Ghent, Belgium

Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
For further details

The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
Date: 6-8 September, 2012
Venue: Shanghai, China

Scientific sessions include: Beyond GWAS; Impact of 1,000 Genomes Project; Genome variation in complex diseases; Rare variations in neuropsychiatric and developmental disorders; New technologies; Challenges and Opportunities of large datasets; Therapeutic Targets Emerging from Genetic Variants in Common Networks; and much more.
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

15th Biennual Meeting fo the European Society for Immunodeficiencies
Date: 3-6 October 2012
Venue: Florence, Italy

The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects.
For further details

Mechanisms of Intellectual Disability: From Genes to Treatment
Date: 3-7 October 2012
Venue: Roscoff, France

The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID ; and Towards a cure: lessons from animal models.
For further details

Second International Conference on Esophageal Atresia: From the Fetus to the Adult
Date: 8-9 October 2012
Venue: Montreal, Canada

In addition to bringing together experts from various disciplines, the theme of the conference will create important links between paediatric and adult medicine, reflecting the need for a continuum of care, which this increasingly numerous population requires. Inherent morbidity related to this condition also underlines the need for long-term monitoring.
For further details

15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
Date: 11-13 October 2012
Venue: Leuven, Belgium

The theme of this year's conference is "Social Phenotypes in Genetic Disorders" and the focus will be on the development, phenotype, genetics and brain basis of social cognitive skills, and on molecular targeted therapy in genetic syndromes. Deadline for abstract submission: 31 May 2012
For further details

3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
Date: 25–26 October 2012
Venue: Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details

The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
Date: 26–27 October 2012
Venue: Ede, Netherlands

Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
For further details

International Ataxia Research Conference
Date: 1-3 November 2012
Venue: London, UK

Topics will include emerging therapeutic strategies for the ataxias; genetic and molecular analysis of the frataxin gene and protein; episodic ataxias and non-inherited ataxias; ataxia clinical research from trials to clinic – biomarkers and clinical trials; and more. .
For further details

10th Asia-Pacific Conference on Human Genetics
Date: 5-8 December 2012
Venue: Kuala Lumpur, Malaysia

The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities.
For further details

7th Alstrom Syndrome International Family Conference and Scientific Symposium
Date: 9-13 May 2013
Venue: Massachusetts, USA

Medical professionals and scientists will hold symposia on Thursday, 9 May and Saturday 11 May.
For further details

8th International Prader-Willi Syndrome Conference
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details


Media, Press & Publications
Basic and clinical aspects of von Willebrand disease brought up to date in a new textbook

Von Willebrand Disease: Basic and Clinical Aspects is a leading new text that brings the reader up-to-date on the epidemiology, genetics, clinical features, diagnostics, care, and treatment of the various forms of von Willebrand disease – a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor. With contributions from leading international experts, this book discusses the disease classification and epidemiology, laboratory diagnosis, clinical, laboratory and molecular markers for the various disease types, and clinical aspects in paediatric and female patients. Various treatment strategies are presented and reviewed, including the use of desmopressin, plasma-derived concentrates, prophylaxes, and gene therapy. The haematologist and other related specialists will find this an informative and useful reference.
Title: Von Willebrand Disease: Basic and Clinical Aspects
Authors: AB Federici, CA Lee, EE Berntorp, D Lillicrap, RR Montgomery -Eds
Publisher: Wiley-Blackwell, 2011
ISBN-13: 978-1405195126


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), 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), Helen Michelakakis (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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