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Editorial
 
Raising awareness for rare diseases – around the world in eighty ways!
 


Talk about diversity! It appears that there are as many ways to support the rare disease cause as there are countries participating this year – and like each country, each awareness-raising activity is wonderfully rich and unique. Thus far, participants from at least thirty five countries on six different continents have signed up to host events in celebration of the last day in February - officially recognised in a number of countries as Rare Disease Day. This day has been set aside especially for our members of society who struggle with a rare condition.

There is not enough space to elaborate all of the activities being planned by patient organisations, scientific bodies, government representatives, members of industry, health professionals and others. Here is a sampling of what is happening around the world:

In Europe, Austria will hold its second March for Rare Diseases and the Orphanet-Austria country partners are hosting a meeting and press conference. In Belgium, the national alliance of rare disease patient organisations has planned a day-long event during which speakers will discuss the advancement of the Belgian National Plan for Rare Diseases, patient participation in clinical trials, orphan drug development and the role of patient advocates in shaping rare disease public policy. Bulgaria is organising a march, expositions, children’s shows, and patient advocacy workshops. Bulgarian First Lady Zorka Parvanova will once again lend her support – this year to a charity concert. Denmark has a conference planned, along with games that encourage ethical discussion around issues pertinent to rare diseases. Finland has a variety of Rare Disease Day events planned in cooperation with Finnish Science Centre Heureka. France has a press conference focusing on the theme of this year’s Rare Disease Day: Building Relationships Between Patients and Research. Orphanet-Germany is organising a rare disease day symposium bringing together professionals and patients. Other events include a touring exhibition entitled "Betrachtungsweisen" (points of view), illustrating health and social challenges of people with restricted growth, organised by BKMF, the German association of people with short stature. A conference in Dusseldorf will consider health care for rare disease patients. In Greece, an all-day “happening” will take place, including the distribution of information material on rare diseases, dedicated events, scientific presentations, and television and radio spots. Hungary has a letter-writing campaign and a workshop planned. Ireland seizes the opportunity of Rare Disease Day to ask “What’s the National Plan?” at a special meeting. Italy’s events include a march and a concert. Lithuania is hosting a seminar on "Rare hereditary childhood cancer syndromes”. The Netherlands has planned an awards ceremony, an information market, and activities for children. In Norway, a Rare Disease Day informational website is being created, with a special focus on research. Portugal focuses its efforts on a media blitz of information. The country will also launch the initial leg of a registry for rare diseases. Romania has school-based activities, a media campaign, and conferences planned for Rare Disease Day. Serbia has a series of open discussion public seminars scheduled. In Spain, both the country’s rare disease alliance and its rare disease research body (CIBERER) are planning events. The scientific meeting has as its topic “To Research is to Advance”. In Sweden – the original inventors of the Rare Disease Day, an idea quickly picked up and successfully promoted by European rare disease patient alliance EURORDIS - an informational film is being released and press events are scheduled. Switzerland, which faces the challenge of gathering patients from three different linguistic areas, is announcing the creation of the country’s first national alliance, named ProRaris. Orphanet-Switzerland contributed to the forging of this alliance, which seeks to bring together a hundred or so individual rare disease patient groups. The Ukraine has a publicity campaign in the city metros, a video clip airing at popular Internet cafes, and a television programme on rare diseases and dolphin care. The United Kingdom is taking a political approach to the day with receptions planned at the national parliaments and/or assemblies designed to raise awareness on the political level. At the European level, a Commission supported workshop will bring together stakeholders to discuss this year’s theme: Bridging Patients and Researchers.

In the Americas, Canada has a screening of the new Hollywood film focusing on Pompe disease, Extraordinary Measures; a Café Scientifique offering an exchange between researchers and the public on the topic of "Challenges in Diagnosing Rare Disorders", and regional consultations on proposed Canadian Rare Disease and Orphan Drug Policy. The United States has a "Raise Your Hand for Rare Disease Research" donation campaign, an open house by the country’s main patient organisation (NORD), and much more. To the south, participants in Brazil are planning a march and Argentina is raising awareness via media events.

Meanwhile, on the other side of the planet, the Hong Kong Mucopolysaccharidoses and Rare Genetic Diseases Mutual Aid Group will acknowledge Rare Disease Day for the first time by hosting a fundraising event entitled “Song of Rare Disease Families”. On this occasion, a new book will be presented: Rare Parents features the stories of 11 Hong Kong parents of children with rare genetic diseases. Finally, grown-ups and children can play their favourite melody on Hong Kong’s largest walk-on piano keyboard. In Japan, a day-long event is sponsored by members of the biopharmaceutical industry and by Japan’s patient organisation and includes art – both to observe and create – café discussions, patient testimonials and a showcase on treatments. Malaysia has an exhibit on rare diseases. In the Philippines, a proclamation signed by Philippine President Gloria Macapagal Arroyo on 8 February, declared the fourth week of February of every year as “National Rare Disease Week”. The country’s patient group, PSOD, is hosting the First Family Forum on Rare Diseases, an awareness and signature campaign, media events, and a screening of the film Extraordinary Measures. In Taiwan, the Taiwan Foundation for Rare Disorders will mark Rare Disease Day with a series of activities, including a fund raiser and a press conference. In China, the China Rare Disease Online and the China-Dolls Care and Support Association are hosting events. Australia has at least four distinct activities planned by different participating groups and including workshops, fund-raisers, and media events.

Finally, there are two participants from Africa involved this year. New-comer South Africa will raise awareness via press campaigns. In Cameroon, the day is being acknowledged for the first time with the patronage of the health minister and the support of a fashion designer who is organising a fashion show. Burkina Fasso is also expected to participate, as are Colombia and Latvia. For full details on these events and all the other activities taking place, visit the official Rare Disease Day website.

Art, conferences, fashion, music, debate, marches, exhibits, television, film - when it comes to raising awareness for rare diseases - vive la difference!

 


 
EU Policy News
 
EMA
 

 
EMA’s Road Map to 2015 open for public consultation: increasing products for rare diseases part of strategy
 
The European Medicines Agency (EMA) has released for public consultation its proposed strategic Road Map to 2015. The new plan builds upon the accomplishments made from the objectives of the 2005-2010 strategy and continues to focus on the “high-quality delivery of the Agency’s core business in an increasingly complex regulatory and scientific environment”. In the new plan, three priority areas have been identified: Addressing public health, Facilitating access to medicines, and Optimising the safe use of medicines. The proposed vision also specifies that “another aspect which will remain high on the public health agenda relates to the availability of medicines for rare diseases and other current unmet medical needs such as medicines for the paediatric population”. Particularly relevant to rare diseases, Strategic Area 1 of the draft proposal includes amongst its objectives the stimulation of medicine development in the areas of unmet medical needs, including rare disorders. Meeting this goal should result in an “increase in the number of scientific advice requests for medicines for unmet medical needs/neglected and rare diseases…” To address the challenge of existing gaps in medicine development, the EMA proposes undertaking an analysis of “the reasons for discontinuation of the development of medicines for human use starting with selected designated orphan medicines and propose remedial action. This could include the provision of incentives such as the establishment of an accelerated assessment scheme for medicines intended for unmet medical needs ..., rare and neglected diseases in the EU and beyond”. The EMA invites European and international partners, stakeholders, including patients’ and doctors’ organisations as well as pharmaceutical industry, and the public to submit their views on the document The European Medicines Agency Road Map to 2015: The Agency’s contribution to Science, Medicines, Health. For this purpose, the EMA has created a Comments form which should be returned to the EMA by 30 April 2010.
Consult the European Medicines Agency Road Map to 2015

 
The Committee on Advanced Therapies: one year later
 
As was reported in the 04 February 2009 issue of OrphaNews Europe, the European Medicines Agency (EMA) created a sixth scientific committee, the Committee for Advanced Therapies (CAT), in response to EU legislation concerning the regulation of advanced therapy medicinal products. There are three types of advanced therapy products defined under the EU legislation: gene therapy products, somatic cell therapy products and tissue engineered products. Such developments offer great potential for the treatment of rare diseases. The CAT is charged with preparing a draft opinion for each advanced therapy medicinal product (ATMP) submitted to the EMA for evaluation as part of a marketing authorisation application, prior to the adoption of a final opinion by the Committee for Medicinal Products for Human Use (CHMP). Last month the CAT celebrated its first birthday. Three ATMP applications have been received since the CAT was created, of which one was for a rare condition: Cerepro, which received an orphan medicinal designation on 6 February 2002 for the treatment of high-grade glioma with subsequent use of ganciclovir sodium, received a negative draft opinion from the CAT. A press release issued for the CAT’s anniversary stated that the committee received 22 requests for classification in 2009 – a procedure that allows companies to verify whether the product they are developing meets the definition of an advanced therapy product and can benefit from the new regulatory pathway for these products. The press release also discloses that one “request for certification of quality and non-clinical data from small and medium-sized enterprises (SMEs) developing ATMPs has been received. This is another new procedure introduced by the legislation on ATMPs and is aimed at providing an incentive to SMEs to conduct necessary studies to further develop their product”. Companies developing advanced therapy medicinal products can obtain reductions in certain EMA fees including: “65% for a request for scientific advice (90% for small and medium-sized companies); and 50% for an application for a marketing authorisation, in cases where the applicant is a hospital or small/medium-sized company and can prove that its product is of a particular public-health interest”. The experts making up the CAT also offer scientific advice as requested.
Learn more about the CAT

 
CHMP issues first opinion on compassionate use
 
Before a medicinal product can be marketed in the European Union (EU) by a pharmaceutical company, the product must receive a marketing authorisation. However, for patients suffering from a disease for which there is no satisfactory authorised alternative therapy, pharmaceutical companies may be allowed to supply a product which has not received a marketing authorisation via a compassionate use programme. This is intended to facilitate the use of new treatment options under development. Such usage is particularly pertinent in the field of rare diseases, where the lack of existing treatments and the chronic nature of many disorders can be critical for patients. While the implementation of compassionate use falls within the competence of each Member State, Article 83 of Regulation (EC) No 726/2004 complements national legislation and allows Member States to receive an opinion concerning the compassionate use of a particular substance from the European Medicine Agency’s Committee on Human Medicinal Products (CHMP). Article 83 specifically seeks to “facilitate and improve the access of patients in the EU to compassionate use programmes; favour a common approach regarding the conditions of use, distribution and the patients targeted for the compassionate use of unauthorised new medicinal products; and increase transparency between member states in terms of treatment availability”. While the implementation of these recommendations is not mandatory, Member States can take them into consideration when setting up compassionate use programmes. The CHMP has now issued its first opinion on the compassionate use of a medicine following a request from Finland “for an intravenous formulation of oseltamivir, Tamiflu IV, to treat critically ill patients with a life-threatening condition due to suspected or confirmed pandemic or seasonal flu, who cannot take authorised antivirals by mouth or as an inhalation”. Tamiflu IV, a new development for intravenous use and for a new target population, has not been authorised.
Learn more about Compassionate Use and the CHMP

 


 
National & International Policy Developments
 
Germany inaugurates first centre specifically for rare disorders
 

On 22 January, an inaugural ceremony was held for the Centre for Treatment and Research on Rare Diseases situated at the University Hospital Tübingen. German First Lady Eva Luise Köhler, patron of Germany’s Alliance for Chronic Rare Diseases (ACHSE) and a dedicated supporter of the rare disease cause, was on hand for the ceremony. The new centre, initially composed of six units focusing on specific groups of rare disorders (neurologic conditions, cystic fibrosis, ophthalmologic disorders, cutaneous diseases, congenital infectious diseases, and disorders of sex differentiation), will take an interdisciplinary approach to the diagnosis, care and treatment of patients and will also provide a conduit for research into therapeutics. Indeed, the new centre seeks to provide a bridge between fundamental and applied research, facilitating the participation of patients in new clinical studies. Over three million persons are affected by rare conditions in Germany. The centre will encourage collaborations with patient organisations and specialised societies. Furthermore, the creation of a register for orphan diseases and a centralised biobank are being planned. The centre will also offer specialised rare disease training that will target medical students and health professionals. Professor Olaf Riess, director of the University of Tübingen’s Medical Genetics department is spokesperson for the centre’s board and Professor of Clinical Neurogenetics Ludger Schoels is vice-spokesperson.



 
Rare Disease UK celebrates one year of action and progress
 

The Rare Disease UK (RDUK) alliance was formed in the wake of the European Commission’s Communication on Rare Diseases: Europe’s Challenges, in order to campaign for the adoption of the subsequent Council Recommendation on an Action in the Field of Rare Diseases - adopted by all 27 EU Member States on 9 June, 2009. In response to the recommendation that each Member State elaborate a plan for their rare disease patients, RDUK, a joint initiative of the Genetic Interest Group and others, has been lobbying for the “implementation of a strategy for integrated service delivery for rare diseases to ensure quality care and the efficient use of limited NHS resources and scarce expertise”. In the year since its establishment, the RDUK has successfully “developed links with key officials in all four governments and NHS of the UK; [gained the] support of a broad range of stakeholders including over 100 patient organisations, pharmaceutical companies, clinicians, academics and individuals; established five Working Groups comprising experts from a variety of fields to investigate various aspects of a strategy for rare diseases and make recommendations to the government; and provided a single voice to drive forward a strategy for rare diseases". The group anticipates an equally pro-active second year; current activities planned include Rare Disease Day parliamentary receptions in Scotland, Wales and Northern Ireland, a reception at the UK Parliament in the autumn, hosting the Europlan conference in November as well as parliamentary activity around the forthcoming general election.

 
Other European news
 
Founder of Swedish rare disease centre Ågrenska receives Royal Medal
 

Anders Olauson, founder and chairman of the Ågrenska Centre, was awarded His Majesty The King’s Medal with the Seraphim Ribbon at the Royal Palace in Stockholm on 28 January, in recognition of his valuable contributions in the field of disability. Ågrenska is a unique non-profit organisation, which since 1989 has been providing programmes for children, teenagers and adults with rare disabilities, as well as their families and the health professionals involved with patients. Anders Olauson also initiated Eesti Ågrenska, the Estonian counterpart to Swedish Ågrenska, and serves as chairman of the European Patients’ Forum, is a Eurordis board member, and belongs to the Social Welfare Board Advisory Council, Board of Directors for Disability Research in western Sweden. In an interview, he evoked the role the Ågrenska Centre plays in helping patients organise: “Since many rare diseases have a very low prevalence, often families with an affected child have seldom met any other families. When they meet at Ågrenska and there is no existing patient organisation for their disease, we help them to set up a structure and offer support until they can run it themselves”. OrphaNews Europe, which featured the Ågrenska Centre in its 10 June 2009 issue, extends a most hearty congratulations to Anders Olauson.


 


 
Ethical, Legal & Social Issues
 

 
New resource for understanding neuromuscular disease stem cell therapy tourism pertinent to many rare diseases
 
Network of excellence for neuromuscular disorders TREAT-NMD has compiled a set of resources focusing on the burgeoning industry of stem cell therapy tourism. Stem cell tourism - Hope versus hype: an online guide is designed to help patients, families and the public sort through the various claims surrounding this frequently unregulated field. TREAT-NMD, an EU-funded network of excellence composed of 21 partner organisations throughout 11 European countries working to accelerate treatments for neuromuscular diseases, points out that “Unregulated clinics all over the world are charging substantial amounts of money for stem cell “therapies”, which have not been shown to be effective, or most importantly safe. These clinics advertise their “treatments” on their websites without giving any scientific evidence to back up their claims, with only anecdotal evidence of their limited successes”. Thus this crucial new resource – designed with the neuromuscular diseases in mind but pertinent and relative to other rare conditions - provides links to various international guidance, scientific articles, documents specific to stem cell treatments for the muscular dystrophies, and general texts on stem cell therapies that can help patients and their families make safer, informed decisions. A document has also been prepared in German language.
View the guidance

 


 
EU Project Follow-up
 
E-Rare announces the projects selected from its second Joint Transnational Call (2009) in the field of rare disease research
 

Despite the global economic downturn, the participating E-Rare partners joined forces to launch a second joint transnational call for proposals at the beginning of 2009. E-Rare, the ERA-Net research programme for rare diseases, is a network of partners made up of public bodies, ministries and research management organisations from ten different countries, responsible for the development and management of transnational research programmes on rare diseases. For this second call, the consortium gathered 10 partner countries - including newcomers Austria, Greece and Portugal. As with the successful first transnational call launched in 2007, this second call was unrestricted in terms of disease, research or treatment approach – with the exception of rare cancers and rare infectious diseases, which receive significant funding from other sources. This time around, 137 proposals involving a total of 566 research teams were received. Of these, 16 transnational research consortia involving a total of 75 participating research teams from the 10 call partner countries were selected for funding from a total budget of €9.6 million for a three year period. Projects selected from the second call will target research on mucopolysaccharidoses, fragile X syndrome, congenital neutropenia, neuroacanthocytosis, optic neuropathy, pulmonary alveolar proteinosis, chronic granulomatous disease, rare pancreatic beta-cell insufficiency diseases, thalassemia, rare inherited microcytic hypochromic anaemias related to iron metabolism, megalencephalic leukoencephalopathy with subcortical cysts, nemaline myopathy, inherited inhibition of inborn immunity, Noonan syndrome and related disorders, epidermolysis bullosa, and rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations. The first joint transnational call (in 2007), which involved six E-Rare partner countries, funded 13 research projects focusing on craniofacial malformations, autoimmune liver diseases, Rett syndrome, spastic paraplegias, Hirschsprung disease, Kindler syndrome, and spinocerebellar ataxia, amongst others conditions. E-Rare is supported by the European Commission under the Sixth Framework Programme ERA-Net scheme for a 4-year period (starting June 1st 2006). It is hoped that the E-Rare project will continue to be supported by the European Commission under the Seventh Framework Programme in order to pursue and further develop its joint funding initiative for transnational research on rare diseases. Learn more about the projects selected for funding

 
Summary report of the RDPlatform expert workshop on rare disease research funding now available
 
RareDiseasePlatform (RDPlatform) is a three-year support action project of the European Union’s Seventh Framework Programme (HEALTH-F2-2008-201230), which began in May 2008. A main goal of the project is the creation of a set of tools for European researchers working in the field of rare diseases, intended to facilitate collaborations between academic teams, SMEs and major companies, and to facilitate access to technological expertise and key research resources. An international initiative involving organisations from 13 European countries, RDPlatform addresses the unmet needs of the European rare disease research community, identified during the FP6 OrphanPlatform project. A summary report of the first Interactive Workshop of Experts on Rare Disease Research that was held in December 2009 is now available online. During the three-session workshop, the new Research and Trials search engines available on the Orphanet website were presented and panel discussions were held on topics including current research activities, determinants of success for therapy development, and funding mechanisms (including DG Research and E-Rare). Workshop participants agreed that networks are “essential tools in the field of rare diseases and that additional instruments should be put in place to ensure the continuity of previously funded RD projects/networks”. Consult the summary report

 


 
Orphanet News
 
Orphanet seeks an Editorial Manager/Editor in Chief
 
Orphanet, the European portal for information on rare diseases, has a rich database of information pertaining to rare conditions and orphan drugs. As part of its aim to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases, Orphanet is hiring a medical doctor with editorial experience to lead its editorial team. Find out more

 


 
New Syndromes
 
Polyvalvular heart disease with joint hypermobility, characteristic facies, and skin abnormalities
 
Polyvalvular heart disease has been reported in a handful of "private" syndromes that have been recently suggested to represent a single dominantly inherited condition. The authors here report five cases in two unrelated families with the same association of polyvalvular heart disease, distinctive facial appearance, and, in four cases, major joint hypermobility. In three cases, characteristic ultrastructural skin abnormalities with abnormal amorphous or microfibrillar deposits under the capillary basal membrane in the papillary dermis were found.
Read the PubMed abstract

 
Eur J Med Genet ; 29-34 ; January - February 2010
 
A syndrome of short stature, microcephaly and speech delay with duplications reciprocal to Sotos syndrome deletion
 
The authors report two individuals of different ethnic and geographical backgrounds, presenting a novel syndrome of short stature, microcephaly, delayed bone development, speech delay and mild or absent facial dysmorphism. The phenotype is remarkably opposite to that of Sotos syndrome, with NSD1 gene duplications reciprocal to the common Sotos syndrome deletion, suggesting a role for NSD1 in the regulation of somatic growth in humans.
Read the PubMed abstract

 
To read more about "Sotos syndrome"

 
Eur J Hum Genet ; 258-261 ; February 2010
 


 
New Genes
 


 
Keratin K6c mutations cause focal palmoplantar keratoderma
 
The palmoplantar keratodermas (PPKs) are a large group of clinically and genetically heterogeneous genodermatoses. Dominant-negative mutations in any of the four identified keratin genes, KRT6A, KRT6B, KRT16, or KRT17, cause pachyonychia congenita (PC), characterised by hypertrophic nail dystrophy and other ectodermal features. In PC, focal PPK (FPPK) is the most painful and debilitating phenotypic feature. The authors here report three unrelated families who presented with familial FPPK with minor or absent nail changes and identified in these patients heterozygous in-frame deletion mutations in the gene KRT6C encoding keratin K6c.
Read the PubMed abstract

 
To read more about "Palmoplantar keratoderma - sclerodactyly"

 
J Invest Dermatol ; 425-429 ; February 2010
 
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
 
The authors identified a mutation affecting the Golgi microtubule-associated protein 210 (GMAP-210) in mice and in humans as the cause of achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia.
Read the PubMed abstract

 
To read more about "Achondrogenesis, type 1A"

 
N Engl J Med ; 202-216 ; 21 January 2010
 
Nephronophthisis: AHI1 is a modifier for retinal degeneration
 
Mutations in the AHI1 gene, which encodes a cilium-localised protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration. Although it is not a primary cause of retinal blindness in humans, the authors show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease nephronophthisis.
Read the PubMed abstract

 
To read more about "Nephronophthisis-associated ciliopathy"

 
Nat Genet ; 175-180 ; February 2010
 
Ohtahara syndrome has an ARX protein truncation mutation
 
Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic intellectual deficit. The authors report a novel mutation within the ARX gene in a family with two affected male cousins - one boy diagnosed with West syndrome and the other with early infantile epileptic encephalopathy (Ohtahara syndrome).
Read the PubMed abstract

 
To read more about "Early infantile epileptic encephalopathy"

 
Eur J Hum Genet ; 157-162 ; February 2010
 
Specific antibody deficiency with normal immunoglobulin concentrations and B cells linked to CD20 deficiency
 
The authors identified a novel type of humoral immunodeficiency caused by CD20 deficiency and characterised by normal development of antigen-independent B cells, along with a reduced capacity to mount proper antibody responses in a juvenile patient with a homozygous mutation in a splice junction of the CD20 gene that results in "cryptic" splicing and nonfunctional mRNA species. Analysis of this patient suggests that CD20 has a central role in the generation of T cell-independent antibody responses.
Read the PubMed abstract

 
To read more about "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"

 
J Clin Invest ; 214-222 ; January 2010
 


 
Research in Action
 

 
Fundamental Research
 
Glioblastoma: the transcriptional network for mesenchymal transformation revealed
 
A mesenchymal phenotype is the hallmark of tumour aggressiveness in human malignant glioma, but the regulatory programmes responsible for implementing the associated molecular signature are largely unknown. Here the authors show that reverse-engineering and an unbiased interrogation of a glioma-specific regulatory network reveal the transcriptional module that activates expression of mesenchymal genes in malignant glioma. Two transcription factors (C/EBPbeta and STAT3) emerge as synergistic initiators and master regulators of mesenchymal transformation.
Read the PubMed abstract

 
To read more about "Glioblastoma"

 
Nature ; 318-325 ; 21 January 2010
 
Niemann-Pick disease: Hsp70 stabilises lysosomes and reverts disease-associated pathology
 
Heat shock protein 70 (Hsp70) is an evolutionarily highly conserved molecular chaperone that promotes the survival of stressed cells by inhibiting lysosomal membrane permeabilisation, a hallmark of stress-induced cell death. The authors show that Hsp70 stabilises lysosomes by binding to an endolysosomal anionic phospholipid bis (monoacylglycero)phosphate (BMP), an essential co-factor for lysosomal sphingomyelin metabolism. In acidic environments Hsp70 binds with high affinity and specificity to BMP, facilitating the BMP binding and activity of acid sphingomyelinase (ASM). The inhibition of the Hsp70-BMP interaction by BMP antibodies or a point mutation in Hsp70 (Trp90Phe), as well as the pharmacological and genetic inhibition of ASM, effectively revert the Hsp70-mediated stabilisation of lysosomes. Notably, the reduced ASM activity in cells from patients with Niemann-Pick disease A and B-severe lysosomal storage disorders caused by mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1) encoding for ASM is also associated with a marked decrease in lysosomal stability, and this phenotype can be effectively corrected by treatment with recombinant Hsp70.
Read the PubMed abstract

 
To read more about "Niemann-Pick disease, type A"

 
Nature ; 549-553 ; 28 January 2010
 
Mitochondrial disease: plasma creatine a potential biomarker
 
Mutations in either the mitochondrial or nuclear genomes can give rise to respiratory chain disease (RCD), a large class of devastating metabolic disorders. This study identifies plasma creatine as a potential biomarker of human mitochondrial dysfunction that could be clinically useful. More generally, they illustrate how spent media from cellular models of disease may provide a window into the biochemical derangements in human plasma, an approach that could, in principle, be extended to a range of complex diseases.
Read the PubMed abstract

 
To read more about "Mitochondrial disease"

 
PNAS USA ; 1571-1575 ; 26 January 2010
 
Clinical Research
 
2q23.1 microdeletion syndrome: a clinical update
 
Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe intellectual deficit, short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, the authors report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients had intellectual deficit with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only.
Read the PubMed abstract

 
Eur J Hum Genet ; 163-170 ; February 2010
 
Postaxial polydactyly: GPC5 and GPC6 are likely candidate genes
 
Postaxial polydactyly type A2 is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. The authors narrow the critical duplicated region to an area spanning 5.59 Mb (89.67-95.25 Mb) and containing eleven known genes, including GPC5 and GPC6, two genes which show homology with genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which polydactyly can occur. The authors propose that GPC5 and GPC6 are the most likely candidate genes for postaxial polydactyly type A2.
Read the PubMed abstract

 
To read more about "Polydactyly postaxial"

 
Eur J Med Genet ; 45-49 ; January - February 2010
 
Oculo-dento-digital dysplasia: Lack of genotype-phenotype correlation for GJA1 mutations
 
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia and syndactyly of the 4th-5th fingers. ODDD is caused by mutations in the connexin 43 gene (GJA1). The authors present four patients from three families with GJA1 mutations but who do not present the genotype-phenotype correlation that has previously been described in the literature between a nonsense mutation and the cutaneous manifestation of the syndrome.
Read the PubMed abstract

 
To read more about "Oculodentodigital dysplasia"

 
Eur J Med Genet ; 19-22 ; January - February 2010
 
Intellectual deficit: high-resolution SNP arrays improve genetic diagnostics
 
The authors characterised copy number variations (CNVs) in a cohort of 70 patients affected by idiopathic intellectual deficit and dysmorphic features via a high density SNP array platform that facilitates coverage of the whole genome, including coding and noncoding regions. Of 51 patients previously evaluated as normal by the Agilent 44K array, the SNP array platform disclosed six additional CNV changes, including three in three patients, which may be pathogenic. This suggests that about 6% of individuals classified as normal using the lower-density oligonucleotide array could be found to be affected by a genomic disorder when evaluated with the higher-density microarray platforms.
Read the PubMed abstract

 
Eur J Hum Genet ; 178-185 ; February 2010
 
Eisenmenger syndrome: improved survival in patients receiving advanced therapy for pulmonary arterial hypertension
 
The authors demonstrate that advanced therapy (AT) for pulmonary arterial hypertension in the context of congenital heart disease (Eisenmenger syndrome) improves pulmonary hemodynamics, functional class, the 6-minute walk test, and is associated with a lower risk of death.
Read the PubMed abstract

 
To read more about "Eisenmenger syndrome"

 
Circulation ; 20-25 ; 5 January 2010
 
Therapeutic Approaches
 
Pompe disease: muscle function restored by genetic suppression of glycogen synthesis
 
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Affected individuals store glycogen mainly in cardiac and skeletal muscle tissues resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severe infantile form. The authors recently demonstrated that shRNA-mediated reduction of glycogen synthesis led to a significant reduction of glycogen accumulation in skeletal muscle of GSDII mice. In this study, they demonstrate further that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in GSDII mice and offers a new perspective for the treatment of Pompe disease.
Read the PubMed abstract

 
To read more about "Glycogen storage disease type 2"

 
Hum Mol Genet ; 684-696 ; 15 February 2010
 


 
Patient Management and Therapy
 


 
Chronic granulomatous disease: gene therapy achieves correction of oxidase activity in peripheral blood neutrophils
 
Chronic granulomatous disease (CGD) is associated with significant morbidity and mortality from infection. In a recent gene therapy trial using busulfan conditioning and an SFFV retrovirus vector, oxidase correction per marked neutrophil was less than normal and not sustained. Despite this, patients clearly benefited in that severe infections resolved. The authors thus initiated a gene therapy trial for X-linked CGD to treat severe infections unresponsive to conventional therapy. They treated 3 adult patients using busulfan conditioning and an MFGS retroviral vector encoding gp91(phox), achieving early marking of 26%, 5%, and 4% of neutrophils, respectively, with sustained long-term marking of 1.1% and 0.03% of neutrophils in 2 of the patients. Gene-marked neutrophils have sustained full correction of oxidase activity for 34 and 11 months, respectively, with full or partial resolution of infection in those 2 patients.
Read the PubMed abstract

 
To read more about "Granulomatous disease, chronic"

 
Blood ; 783-791 ; 28 January 2010
 
Whipple disease: ceftriaxone and meropenem both successful as initial therapies
 
Whipple disease is a chronic infection caused by the actinomycete Tropheryma whipplei. The authors describe a successful outcome with complete remission from a randomised controlled trial of antimicrobials ceftriaxone or meropenem (which are able to cross the blood-brain barrier and to which T whipplei is susceptible), followed by oral trimethoprim-sulfamethoxazole for 12 months.
Read the PubMed abstract

 
To read more about "Whipple disease"

 
Gastroenterology ; 478-486 ; February 2010
 
Lower mortality amongst paediatric rheumatology patients in the USA
 
To describe mortality rates, causes of death, and potential mortality risk factors in paediatric rheumatic diseases in the USA, the authors used the Indianapolis Pediatric Rheumatology Disease Registry, which includes 49,023 patients from 62 centres who were newly diagnosed between 1992 and 2001. After excluding patients with malignancy, 110 deaths among 48,885 patients were confirmed. These findings indicate that the overall mortality rate for paediatric rheumatic diseases was not increased. Even for the diseases and conditions associated with increased mortality, mortality rates were significantly lower than those reported in previous studies.
Read the PubMed abstract

 
Arthritis Rheum ; 599-608 ; February 2010
 


 
Orphan Drugs
 
COMP off to a good start in 2010 with seventeen positive opinions in the first two months
 

The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) got the year off to a good start with four positive opinions issued at the January 2010 COMP meeting for the treatment of:

- Gaucher disease
- acute myeloid leukaemia
- progressive supranuclear palsy
- retinitis pigmentosa in Usher syndrome 1B

The COMP continued the momentum with 13 positive opinions issued at its February 2010 meeting for the treatment of:

- argininosuccinic aciduria
- citrullinaemia type 1
- ornithine translocase deficiency (also called hyperornithinaemia-hyperammonaemia)(two products)
- ornithine carbamoyltransferase deficiency
- carbamoyl-phosphate synthase-1 deficiency
- hyperargininaemia
- cutaneous T-cell lymphoma
- hereditary haemorrhagic telangiectasia
- acute myeloid leukemia
- chronic myeloid leukemia
- Hodgkin lymphoma
- multiple myeloma

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

 
CHMP approves 62nd orphan medicinal product at its January meeting
 
The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a conditional marketing authorisation, for the orphan medicinal product Arzerra (ofatumumab) at its January meeting. Arzerra, from Glaxo Group Ltd, is intended for the treatment of patients with chronic lymphocytic leukaemia who are refractory to fludarabine and alemtuzumab. A marketing authorisation "under conditional approval" is issued in cases when further evidence on the medicinal product is awaited. In the CHMP’s press release, it is explained that for Arzerra, "this relates to clinical data on the long term use ... in the double (fludarabine and alemtuzumab) refractory population and comparative clinical data on the use of Arzerra in the fludarabine-refractory, bulky lymphadenopathy population (patients ineligible for alemtuzumab). The European Medicines Agency will review new information within one year and update the product information as necessary".
 
CHMP approves generic products for glioblastoma and malignant glioma
 
The European Medicines Agency Committee for Medicinal Products for Human Use (CHMP) late last year adopted positive opinions for Temozolomide Teva (temozolomide), from Teva Pharma B.V., and Temomedac (temozolomide), from Alfred E. Tiefenbacher GmbH & Co. KG, generics of Temodal, which is authorised in the EU for treatment of glioblastoma and malignant glioma.
 


 
Courses & Educational Initiatives
 
23rd Course in Medical Genetics
 
Date: 23-28 May 2010
Venue: EuroMediterranean University Centre of Ronzano, Bologna, Italy

A week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today, providing an overall view of the clinical developments taking place in the major application fields of modern genetics in different medical specialties. The topics covered in the present edition are: Introduction to Medical Genetics and Genome Analysis, Cytogenetics and Clinical Genetics, New Approaches in Medical Genetics, Complex Genetic Disorders and Neurogenetics, Therapy, Technology, Epigenetics and Ethical Issues.
For further details

 
Update in Neuromuscular Disorders
 
Date: 24–27 May 2010
Venue: National Hospital for Neurology and Neurosurgery, London, UK

This course, now in its third year, is the result of the merging of two popular annual courses with an established international reputation. Amongst the many topics covered are diagnostic approaches in muscular dystrophy; distal myopathies; limb girdle muscular dystrophies; long-term ventilation in DMD; childhood CMT; Pompe disease; congenital myopathies; congenital myasthenia; pharmacological treatment of muscular dystrophies; genetic therapy in DMD; and much more.
For further details

 
TREAT-NMD Clinical Trials in Neuromuscular Disorders and Other Rare Diseases Workshop
 
Date: 24-26 June 2010
Venue: The Clinical Trials Coordination Centre, Freiburg, Germany

One of the most common reasons for failed trials is poor protocol design. As neuromuscular disorders are very rare, clinical trials have to be multi-centre or even multinational to include enough patients. As a result, the study design for these trials is usually complex. Also, academic trials have come to face a changed regulatory environment following the implementation of the EU Clinical Trials Directive 2001/20/EC. This TREAT-NMD workshop will explore these issues.
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

 
Institute of Myology Summer Programme
 
The Institute of Myology offers the possibility to train in myology via a condensed 10-day course organised in Paris, France. The course is open to foreign students with special attention given to those posted in the French Overseas Territories and those working in developing countries. Many aspects of myology are addressed during the course, from basic science to cutting-edge therapies, and clinical and genetic approaches to muscle diseases, taught via a series of lectures and interactive workshops in English. A certificate of attendance is issued upon completion of the Summer School.
For further details

 


 
What's on Where?
 


 
3rd International Rare Disease Day
 
Date: 28 February 2010
Venue: Worldwide

This year’s theme: “Patients and Researchers: Partners for Life!”
For further details

 
2nd Pan-European Conference on Haemoglobinopathies
 
Date: 13-14 March 2010
Venue: Berlin, Germany

This conference aims to further strengthen the national and regional support networks for thalassaemia patients in Europe, and increase awareness among European medical professionals and national health authorities of the disorder, its proper management and prevention.
For further details

 
Designing the Future Conditions for Clinical Research in Europe Workshop
 
Date: 17 March 2010
Venue: Brussels, Belgium

In this final workshop of the “Roadmap Initiative for Clinical Research in Europe” of the European Forum for Good Clinical Practice, the proposals made in previous workshops will be summarised and discussed, further optimised and prioritised with the aim to design a proposal to the Commission for an overall new regulatory environment for clinical trials in Europe that attracts and encourages clinical research in Europe to the benefit of the patients.
For further details

 
6th International Conference on Rare Diseases and Orphan Drugs
 
Date: 18-20 March 2010
Venue: Buenos Aires, Argentina

The 6th International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) for the first time will be convened in the southern hemisphere in agreement with its aim of globalisation of rare disease research and orphan products development activities.
For further details

 
Health 2.0 Conference
 
Date: 6-7 April 2010
Venue: Paris, France

The Health 2.0 Conference is the leading showcase of online and mobile technologies in healthcare – including rare disease information and care.
For further details

 
Sickle Cell: The Next 100 Years
 
Date: 14-16 April 2010
Venue: Leicester, United Kingdom

Sickle Cell: The Next 100 Years will mark the 100th anniversary since Dr James Herrick published his first observations on ‘peculiar elongated cells’, what is now known as sickle cell disease. This three day conference will bring together a selection of papers offering delegates the chance to explore the social research currently being carried out around the world.
For further details

 
ESH-EHA Conference: Innovative Therapies for Red Cell and Iron Related Disorders
 
Date: 16-18 April 2010
Venue: Cascais, Portugal

Sessions include: Hematopoietic stem cell therapies; molecular switching in erythroid differentiation; gene therapy; iron regulatory pathway for therapies; innovative therapies for red cell disorders, and more.
For further details

 
18th International Workshop on Vascular Anomalies
 
Date: 21-24 April 2010
Venue: Brussels, Belgium

Topics will include clinical and basic research in the pathophysiology, diagnosis and management of vascular anomalies, as well as the psychosocial challenges faced by the patients.
For further details

 
Birt-Hogg-Dubé syndrome Symposium 2010
 
Date: 22 April 2010
Venue: Washington, DC USA

A symposium for reviewing the latest developments for Birt-Hogg-Dubé syndrome.
For further details

 
4th International Meeting on Congenital Disorders of Glycosylation and Related Disorders
 
Date: 22-23 April 2010
Venue: Leuven, Belgium

Organised by EUROGLYCANET, a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders, this meeting will cover all aspects of these disorders, including the discovery of novel types, the study of fundamental aspects of glycosylation, analytical procedures and diagnostic methods and the analysis of models for the disease.
For further details

 
XI International Child Neurology Conference
 
Date: 2-7 May 2010
Venue: Cairo, Egypt

Featuring a rich variety of topics including epilepsy, new anticonvulsants, neurogenetics, CNS infection, nutritional disorders of CNS, demyelinating diseases and leukodystrophies, cerebellar ataxia, advances in spinal muscular atrophy, myasthenia gravis and myasthenic syndromes, neurocutaneous disorders, and much more.
For further details

 
5th European Conference on Rare Diseases 2010
 
Date: 13-15 May 2010
Venue: Crakow, Poland

“From policy to effective services for patients”, this conference will look at national plans and strategies for rare diseases, European reference networks and centres of expertise, information and medical education, science from bench to bedside, rare diseases in central and Eastern Europe, and much more. Abstract submission deadline: 28 February 2010
For further details

 
7th International Prader-Willi Syndrome Conference: East Meets West – A New World for Prader-Willi Syndrome
 
Date: 20-23 May 2010
Venue: Taipei, Taiwan

A scientific conference bringing together clinicians and researchers from around the world to present and discuss new research findings relevant to the understanding of PWS, new treatments and support strategies, and policy and practice development will be held alongside and combined with a parent and care-provider conference. There is also a young persons’ programme designed especially by the host country.
For further details

 
22nd Annual Meeting of the European Academy of Childhood Disability
 
Date: 27-29 May 2010
Venue: Brussels, Belgium
This year’s event - Measures of Progress – Evaluating management outcome in childhood disability - will update and clarify the multidimensional model of disablement specifically applied to management of children with neurodevelopmental disability. Emphasis is on the need for reliable measurement of management outcomes through new findings, from functional imaging to quality of life assessment.
For further details

 
First International Workshop on Oesophageal Atresia
 
Date: 27-28 May 2010
Venue: Lille, France

Amongst the topics covered will be: molecular embryology of the foregut; environmental factors in the etiology of esophageal atresia; genetic factors in isolated and syndromic esophageal atresia; ultrasound and MRI prenatal diagnosis of OA: impact on management; Outcomes of esophageal atresia beyond childhood; multidisciplinary clinics: how to improve the follow-up of the patients; and family support groups: an essential contribution to follow-up care.
For further details

 
Fourth Conference on Translational Research in Paediatric Rheumatology
 
Date: 27-30 May 2010
Venue: Genoa, Italy

“Biological Agents and Emerging Treatments in the Management of Rheumatic Diseases” will address the treatment of both adult and childhood rheumatic diseases with the purpose of reviewing and discussing the progress that has been achieved thus far, the unmet needs that are still faced, and the potential new treatments that the future holds in store. A final session will be devoted to strategies to improve methodologies of translational research on and clinical development in common, as well as rare, forms of rheumatic disorders.
For further details

 
European Human Genetics Conference 2010
 
Date: 12-15 June 2010
Venue: Gothenburg, Sweden

In conjunction with the European Meeting on Psychosocial Aspects of Genetics. With various satellite symposia available including the one-day event taking place on 11 June entitled "Changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe".
For further details

 
International Conference on Neuromuscular Diseases: Care and Clinical Trials
 
Date: 17–19 June 2010
Venue: Sao Paulo, Brazil

This exciting meeting is aimed at healthcare professionals with an interest in neuromuscular disorders (with a special focus on DMD and SMA) and patients and families. Two days of lectures from a strong panel of international and Brazilian speakers will be followed by a dedicated family day with research updates for patients and information on physiotherapy and care.
For further details

 
11th International Symposium on Mucopolysaccharide & Related Diseases
 
Date: 23-26 June 2010
Venue: Adelaide, South Australia

This year’s theme is "Translating Research into Clinical Reality" with a focus on the areas of newborn screening, prognostics, understanding pathology and therapeutic options.
For further details

 
6th Alstrom Syndrome Family Conference, Medical Research Clinic and Scientific Symposium
 
Date: 24-28 June 2010
Venue: Helen, Georgia, USA

Bringing together patients and professionals to further knowledge of Alstrom syndrome and its treatment.
For further details

 
International Congress for Tarlov Cysts and Adhesive Arachnoiditis
 
Date: 2-3 July 2010
Venue: Chambéry, France

International health professionals will discuss recent findings on Tarlov and meningeal cysts, Arachnoïditis, Cauda Equina syndrome, and neuropathic pain. Patients will share their experience. Translations available in English, French and Spanish.
For further details

 
14th International Conference on Behçet Disease
 
Date: 8-10 July 2010
Venue: London, England

Presenting new developments in basic and clinical science to bear on the specific issues of Behçet Disease (BD). Topics to be covered will include immunology of BD, vasculitis in BD, genetic basis of BD, regional inflammation and paediatric BD. The programme will also include debates on topics of current interest or controversy.
For further details

 
2th International Congress on Neuromuscular Diseases
 
Date: 17-22 July 2010
Venue: Naples, Italy

Offering a variety of sessions including paediatric neuromuscular diseases, genetic testing and diagnosis, pathogenic mechanisms of inherited neuropathies, novel therapeutic targets at the neuromuscular junction, motor neuron diseases, and much more.
For further details

 
International All Star Vasculitis Symposium
 
Date: 30 July-1 August 2010
Venue: Long Beach, CA, USA

Topics will cover all the vasculitides and will concentrate on the advances in medical treatments, research and quality of life issues for patients.
For further details

 
MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
 
Date: 16-18 September 2010
Venue: Viareggio, Italy

This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
For further details

 
Second AnEUploidy Workshop
 
Date: 17-19 September 2010
Venue: Split, Croatia

AnEUploidy is the acronym of an Integrated Project (IP) funded by the European Commission within its Sixth Framework Programme. This project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. This second workshop will allow colleagues to share views, advancements, and ideas.
For further details

 
15th International Congress of World Muscle Society
 
Date: 12-16 October 2010
Venue: Kumamoto, Japan

The main topics to be addressed include new therapeutic targets for neuromuscular disorders; congenital muscular dystrophies (celebrating the 50th anniversary of Fukuyama congenital muscular dystrophy); and distal myopathies and protein aggregation myopathies.
For further details

 


 
Press & Publications
 


 
Shortlisted rare disease book wins first prize
 
The last issue of OrphaNews Europe reported a new non-fiction rare disease book shortlisted for Canada’s Charles Taylor prize. The Boy in the Moon: A Father’s Search for His Disabled Son (Random House Canada) offers an account penned by the journalist father of a son diagnosed with cardiofaciocutaneous syndrome, a condition characterised by multiple congenital anomalies as well as intellectual deficit, psychomotor delay, muscular hypotonia, and feeding problems. Competing with three other Canadian nonfiction authors writing on a variety of subjects for the C$25,000 final prize, the final winner was announced on 8 February – Ian Brown’s The Boy in the Moon: A Father’s Search for His Disabled Son took the first prize.
 
NIH’s Undiagnosed Disease Program subject of television documentary
 
For the upcoming rare disease day, the Discovery Health channel in the USA is featuring an hour-long special presentation that takes viewers inside the National Institutes of Health’s Undiagnosed Disease Program (UDP), a relatively new initiative that already receives thousands of case submissions each year. Disease Detectives will follow UDP head Dr. William Gahl and his team of experts as they examine two undiagnosed cases: the first involving a seven-year-old boy with developmental delays, and the other featuring a 52-year-old man with a “constellation of symptoms” including shaking, muscle weakness, and gastrointestinal disorder.
 
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment - 6th Edition
 
This new edition of Genetic Disorders and the Fetus provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: the use of chromosomal microarrays in prenatal diagnosis; social, legal and public policy issues with special reference to international approaches; and the important peroxisomal and related fatty acid oxidation disorders. Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives.

Authors: A. Milunsky, J. Milunksy –eds.
Publisher: Wiley-Blackwell, December 2009
ISBN: 978-1-4051-9087-9

 


 
Orphanews Europe, the newsletter of the Rare Diseases Task Force
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, Catherine Berens, Olaf Bodamer, Helen Dolk, Anders Fasth, Laura Fregonese, Benjamin Guesdon, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
For more information on the Rare Diseases Task Force
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