7 September 2007 print
EU Policy News
Nat Pol News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Partnersearch, Job Opps
Patients' Associations
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Commission Communication on a European Action in the Field of Rare Disease -consultation calendar
The first draft of the public consultation for the Commission Communication on a European Action in the Field of Rare Diseases is currently circulating among members of the drafting group. The second draft will be sent to the four bodies to be consulted in this phase of the process: the EC Rare Diseases Task Force, the working group of Reference Networks from the High Level Group on Health Services and Medical Care, the Committee for Orphan Medicinal Products, and Eurordis. The third draft will be presented at the Rare Diseases Task Force meeting taking place in Luxembourg on 23 October. The launch of the public consultation is planned for the 1st of November for a period of eight weeks.

EU Policy News
Health-EU e-newsletter to debut
The EU Health and Consumer Protection Directorate-General's Health-EU Portal will introduce an online newsletter this month, providing the latest public health news at the European and international level. Rare diseases have their own section on the EU Health Portal. To be published twice monthly in 20 EU languages, the newsletter is intended to keep professionals and the public abreast of developing EU-level healthcare actions, future events, latest publications and new links on the Health Portal. OrphaNews Europe welcomes this potential opportunity for rare disease issues to reach a wider audience.
DG Research
Guidance notes for negotiating FP7 projects issued
A set of project guidance notes have been released for EC Seventh Framework Programme collaborative projects, networks of excellence, coordination and support actions, and research for the benefit of specific groups (in particular SMEs). These notes, intended to aid participants invited for project negotiation following the evaluation of their proposal, outline procedures of the negotiation process. Strictly for information purposes, the contents are not intended to replace consultation of any applicable legal sources or the necessary advice of a legal expert, where appropriate. Topics explored include: documents needed for negotiation; how, why and what to negotiate; financial negotiation; grant agreement issues; and project monitoring and follow-up. Templates are included in the various appendices at the end of the document.
Ethics group publishes opinion on FP7 stem cell guidelines
Upon request from European Commission President Jose Manuel Barroso, the European Group on Ethics of Science and New Technologies (EGE) has published an opinion concerning guidelines for the ethics review of EU-funded human embryonic stell cell (hESC) research projects. The opinion aims to assure that ethical requirements are adhered to in FP7-funded projects. In addition to the ethical framework already established for FP7 projects, the opinion recommends the following points: hESC lines must result from non-implanted IVF embryos; whenever possible alternatives to hESC should be employed if they have the same scientific potential; and donor rights must be protected.
EMEA think-tank on innovative drugs issues report
To fulfil a key EMEA objective of making safe and effective medicines available, fostering innovation is important. The EMEA/CHMP think-tank group on innovative drug development was established to identify "scientific bottlenecks and emerging science in the development of medicines" and to "generate recommendations for future EMEA actions". The group has issued its final report, in which the role of academic groups, learned societies and non-industry sponsored clinical studies was acknowledged, including their utility in addressing rare indications. An Innovation Task Force has been formed to continue efforts in this area.
Read the report


National & International Policy Developments
Other European news
Industry group report reveals active role in orphan drug policy making
The European Biopharmaceutical Enterprises (EBE) has issued its 2006-2007 Annual Report. Composed of 62 member companies, the EBE represents the biopharmaceutical industry in formulating European- and global-level policies as well as contributing industry expertise to the development of regulatory frameworks, guidelines, and standards. Promoting good practice exchanges is also a key aim. In the field of orphan medicinal products (OMP), the Annual Report reveals that the EBE is playing an active role in orphan drug policy and regulatory topics via the OMP task force. It also evaluates the impact of OMPs on the European economy and society. In addition, the EBE acts as a coordinator for industry within the EMEA's COMP Group for Interested Parties, allowing government, academia, industry and patients to address topics concerning OMP approval and availability.
New European initiative to study anomalies linked to mental retardation
The Universities of Nijmen (Netherlands) and Teubingen (Germany), along with the UK NHS Regional Genetics Laboratory in Birmingham, are collaborating with Affymetrix Inc. to form the European Cytogenetic Research Initiative. The project will be using microarrays to examine chromosomal anomalies linked to mental retardation in children. The researchers predict that they will be able to identify more abnormalities. At present, the origin of many learning disabilities cannot be identified. It is hoped that a diagnosis will result in better clinical management. One of the researchers commented in a recent press release that they hoped to find a higher number of de novo deletions and amplifications than karyotyping allows. It was noted, however, that establishing a causal link between an abnormality and clinical phenotype will remain a challenge.
Open call for diagnostic molecular genetics best practice meeting topics
The European Molecular Genetics Quality Network in collaboration with EuroGentest and CanGeneTest have launched an open call for topics for best practice meetings to be held in 2008. These meetings will focus on drafting new best practice guidelines or updating existing ones for molecular genetics testing. Expressions of interest for a disease-specific best practice meeting should be submitted by 14 September 2007.

Three topics will be chosen from the expression of interest for the 2008 meetings based on the availability of up-to-date guidelines. Past meetings have resulted in disease-specific best practice guidelines for Prader-Willi syndrome and Friedreich ataxia, amongst other rare conditions. Another call for expressions of interest is scheduled for mid-2008.

Other International News
NIH creates resource for biomedical partnerships...including rare disease technologies
The National Institutes of Health (NIH) Pipeline to Partnership (P2P) has launched as a web-based tool designed to promote NIH licensed technologies and technologies funded through their Small Business Innovation Research and Small Business Technology Transfer programmes. Developed in conjunction with the NIH Office of Technology Transfer (OTT), P2P offers a virtual space for concerned parties to exhibit their technologies and products to potential partners, investors and licensees. In a press release, it was noted that many successful biomedical products have resulted from this collaborative process of NIH early-stage technologies licensed by pharmaceutical and biotechnology companies, including, for example, Velcade, a treatment for multiple myeloma. Divided into categories, an index of technologies available for partnering can be found on the OTT website, including a rare diseases section.
US Office of Rare Diseases starts quarterly newsletter
To keep interested parties up-to-date on rare disease activities, information and events, the US NIH Office of Rare Diseases (ORD) has begun publishing a quarterly newsletter. Focus on Rare Diseases provides highlights of the many and varied ORD research activities and includes a calendar of upcoming ORD-sponsored scientific conferences. The debut issue of the newsletter covers updates in the following areas: rare diseases clinical research network; clinical protocols; the expansion of data safety; monitoring board and protocol review; technologies available for licensing from NIH/FDA and non-profit institutions on rare diseases and conditions; fiscal year 2006 biennial report on rare diseases research activities; and the activities of the Genetic and Rare Diseases Information Center. The publication welcomes newsworthy contributions.
A new rare disease tool for physicians
ZebraHunter playfully refers to a warning many US medical students receive that hoofbeats generally don't signal the arrival of a zebra. However, physicians do occasionally encounter that rare "zebra" disease in the form of signs and symptoms they have never before seen. For this, ZebraHunter is being developed as an on-line evidence-based search tool using published medical case reports from Medline as its source to help doctors and other professionals retrieve expert documentation of rare clinical case presentations. ZebraHunter will access matches based on signs, symptoms, findings or diagnostic impressions. This public-access resource is currently under development at Columbia University's Department of Biomedical Informatics.
The accuracy of diagnostic codes for rare diseases - a study
The American Medical Informatics Association (AMIA) has published a study considering the accuracy of diagnostic codes and assessing common sensitivity and specificity methods. In terms of rare diseases, the authors assert that the gold standard method of examining clinical charts pulled at random is:

Impractical since a very large number of charts would have to be reviewed to find a reasonable number of people with a disease to correlate with the presence of diagnostic codes. Mild misclassifications in this case could have a profound effect on the assessment of sensitivity and specificity. In an effort to address this problem, many investigators have implemented alternate methods where charts are selected for gold standard review on the basis of the presence or absence of a relevant diagnosis code. While this sampling frame ensures a greater number of patients with the disease, this sampling strategy introduces bias that alters the accuracy of the assessment of sensitivity and specificity.

Assessing the accuracy of diagnostic codes in administrative databases: the impact of the sampling frame on sensitivity and specificity is available in the 2006 AMIA Annual Symposium Proceedings Archive.

FDA Office of Orphan Products Development gets new leader
Tim Coté, MD, will assume the position of Director of the Office of Orphan Products Development at the U.S. Food and Drug Administration in early September. The position was formerly held by Marlene Haffner, MD.

Orphanet News
Orphanet articles in EJHG are frequently accessed
Orphanet enjoys a fruitful agreement with Nature Publishing Group's European Journal of Human Genetics (EJHG) to co-publish articles that have an important genetic content. Now, the most recent EJHG quarterly report reveals that some of these articles figure amongst those most frequently accessed in the journal. The categories of most-frequently-accessed abstracts, full-text articles, and pdf downloads all have articles from the Orphanet-EJHG collaboration, which are published in the Practical Genetics section of the EJHG. Neurofibromatosis 1, Sotos syndrome, and Rubinstein-Taybi syndrome are amongst the rare disorders most piquing readers' interest.
New Research Projects open for Recruitment
Long term administration of inhaled dry powder Mannitol in Cystic Fibrosis - A new safety and efficacy study
Phase 3 trial to evaluate the safety and efficacy of aztreonam lysine for inhalation in patients with cystic fibrosis
Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-Blind, Placebo-Controlled Study (in France)
Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-Blind, Placebo-Controlled Study (in Sweden)
Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-Blind, Placebo-Controlled Study (in Spain)


New Syndromes
Excessive growth and learning disabilities in six families
The British team describes six families with members presenting large size, learning disabilities, and facial dysmorphia. Mutations in gene RNF135 are responsible for this new syndrome. The authors specify that the gene, together with NF1, is within the microdeletion region implicated in cases of neurofibromatosis type 1 with large stature.
Read the PubMed abstract

Nat Genet ; 963-965 ; Aug 2007

New Genes
A mutation in FIG4 is responsible for an autosomal recessive form of type 4 Charcot-Marie-Tooth disease
The authors studied the pale tremor mouse afflicted with severe trembling, reduced pigmentation and progressive muscular weakness. These signs are transmitted as an autosomal recessive trait and positional cloning revealed a homozygous insertion in gene Fig4. The analysis of the sequence in humans has led to the identification of a missense mutation in four patients born to different families at presenting a hereditary motor and sensory neuropathy. Based on the clinical signs observed, the authors suggest that the FIG4 deficit constitutes a novel autosomal recessive form of Charcot-Marie-Tooth disease designated type 4J.
Read the PubMed abstract

Nature ; 68-72 ; 05 July 2007
Progressive myoclonic epilepsy linked to KCTD7 mutations in a Moroccan family
The Belgian team, studying a Moroccan family affected by an autosomal recessive form of progressive myoclonic epilepsy, identified a point mutation in gene KCTD7. It encodes an unknown function protein containing the potassium channel tetramerization domain.
Read the PubMed abstract

Ann Neurol ; 579-586 ; June 2007
A loss of GLIS2 to blame for autosomal recessive nephronophthisis
The authors have identified a mutation in GLIS2 responsible for the autosomal recessive transmission of nephronophthisis in a consanguineous family. Transgenic mouse models of the disease allowed the authors to determine that the transcription factor coded by Glis2 plays an essential role in maintaining renal tissue architecture by preventing apoptosis and fibrosis.
Read the PubMed abstract

Nat Genet ; 1018-1024 ; Aug 2007
RAF1 mutations in Noonan and LEOPARD syndromes are linked to hypertrophic cardiomyopathy
Mutations causing increased RAS signalling have been linked to Noonan and LEOPARD syndromes, two disorders with overlapping features. Two studies published in Nature Genetics describe RAF1 mutations in 30 patients that lead to increased kinase enzyme activity and abnormal activation of the RAS pathway. In contrast to patients identified to date with RAS pathway mutations, a large majority of patients with RAF1 mutations present hypertrophic cardiomyopahy (95% versus 18%).
Read the first PubMed abstract
Read the second PubMed abstract

Nat Genet ; 1007-1012 ; August 2007
Nat Genet ; 1013-1017 ; August 2007

Autosomal recessive osteopetrosis is due to mutations in the growth factor coding gene RANKL
Autosomal recessive osteopetrosis is a congenital disease characterised by generalised skeletal densification due to osteoclast function loss. In six patients, the authors identified mutations in RANKL, coding a growth factor crucial for cell differentiation. Hematopoietic stem cell transplantation is ineffective in these patients as the transplanted cells cannot differentiate into osteoclasts. The administration of the growth factors presents a potential therapeutic approach, however.
Read the PubMed abstract

Nat Genet ; 960-962 ; August 2007
Mutations in LRP2: a common cause for Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The authors identified mutations in gene LRP2 in six families with the syndrome and in one family with an facio-oculo-acoustico-renal syndrome. Clinically close, the latter syndrome is characterised by proteinuria, congenital diaphragmatic hernia and the absence of agenesis of the corpus callosum. The authors propose considering the two syndromes as variants of the same disorder.
Read the PubMed abstract

Nat Genet ; 957-959 ; August 2007
Partial functional loss of Noggin is at the root of brachydactly type B
Brachydactyly type B is characterised by terminal anomalies of fingers and toes, largely due to mutations in ROR2 gene. In patients without this mutation presenting the additional occurrence of proximal symphalangism and carpal synostosis, the authors identified six point mutations in the bone morphogenetic protein (BMP) antagonist NOGGIN. Other mutations, causing total functional loss of protein Noggin, have previously been described and linked to articulation disorders. The mutations identified here only partially alter the ability of Noggin to bind to BMPs, probably explaining the phenotypic differences observed.
Read the PubMed abstract

Am J Hum Genet ; 388-396 ; August 2007
A new Krebs-cycle enzyme is responsible for congenital lactic acidosis
Congenital lactic acidosis is a severe metabolic disorder characterised by the onset of lactic acidosis within the first day of life and early death. In one consanguineous family, the authors identified a homozygous 2-bp deletion in SUCLG1, encoding the alpha sub-unit of the Krebs-cycle enzyme succinate-coenzyme A ligase.
Read the PubMed abstract

Am J Hum Genet ; 383-387 ; August 2007
Mutations in BRWD3 gene cause nonsyndromic X-linked mental retardation associated with macrocephaly
By systematically analysing the X-chromosome coding sequences, the authors identified BRWD3 mutations in two families with X-linked nonsyndromic mental retardation. The men presented macrocephaly, a large forehead, large cupped ears and light to moderate intellectual impairment. BRWD3 is expressed ubiquitously and its function is to date unknown.
Read the PubMed abstract

Am J Hum Genet. ; 367-374 ; August 2007
Polyalanine expansion mutation in the ARX gene causes Ohtahara syndrome
Early infantile epileptic encephalopathy, or Ohtahara syndrome, is the most precocious form of this type of disorder. In two patients, the Japanese team found a duplication of 33 base pairs in ARX gene, expanding by 11 amino acids the polyalanine tract of the ARX protein. A shorter expansion was previously observed in West syndrome, another age-dependent epileptic encephalopathy presenting a less-severe phenotype and a later onset.
Read the PubMed abstract

Am J Hum Genet ; 361-366 ; August 2007

Research in Action
Fundamental Research
Interfering RNA traverses the blood-brain barrier via rabies virus
A major impediment in the treatment of neurological diseases is the presence of the blood-brain barrier, which precludes the entry of therapeutic molecules from blood to brain. The authors tested the efficacy of a peptide derived from rabies virus glycoprotein to traverse the blood-brain barrier. This 29-amino-acid peptide specifically binds to the acetylcholine receptor expressed by neuronal cells. The researchers modified the peptide sequence in order to make it specifically bind the interfering RNA. When injected intravenously in mouse models, it effectively silenced in the brain the specific targeted gene. Furthermore, intravenous treatment with RVG-9R-bound to antiviral siRNA afforded robust protection against fatal viral encephalitis in mice. This approach could thus be used for the delivery of siRNA and potentially other therapeutic molecules across the blood-brain barrier.
Read the PubMed abstract

Nature 2007 ; 39-43 ; 5 July 2007
Age of myasthenia onset is influenced by quantitative auto-antigen expression level in the thymus
Myasthenia is an autoimmune diseases caused by antibodies targeting the alpha subunit of the muscle acetylcholine receptor. The French research team studied a variant of the promoter of the corresponding gene (CHRNA1) that influences the age of disease onset. This variant interacts weakly with the IRF8 transcription factor and is linked to a reduction, in vitro, of CHRNA1 expression in the thymus. Interferon signalisation (and AIRE protein) thus seem to play a pivotal role in the regulation of expression of auto-antigens in the thymus and thus on their tolerance level by the immune system.
Read the PubMed abstract

Nature ; 934-937 ; 23 August 2007
Clinical Research
Women with neurofibromatosis1 have elevated breast cancer risk
Neurofibromatosis1 is an autosomal dominant syndrome predisposing for nervous system tumours. The authors studied 304 afflicted women over age 20. They found a five-fold increase in the risk for developing breast cancer. Thus mammography, starting at age 40, is recommended.
Read the PubMed abstract

J Med Genet ; 481-484 ; August 2007
Methylmalonic acidurias: mut0 and cblB variants have a more severe prognosis
Methylmalonic acidurias is a heterogenous group of metabolic diseases caused by defects of methylmalonyl-CoA mutase (MCM) (two variants: mut0, mut-) or deficient synthesis of its cofactor 5'-deoxyadenosylcobalamin (AdoCbl) (two variants: cblA, cblB). The German research team followed the long-term outcome of 83 patients born between 1971 and 1997. They observed that those with Mut0 and cblB variants more often have chronic renal insufficiency. The appearance of symptoms is also more precocious in these patients and linked to a higher frequency of complications and death.
Read the PubMed abstract

Pediatr Res ; 225-230 ; August 2007
84% of POEMS syndrome patients present endocrinopathy
POEMS syndrome is defined by the presence of polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes. The Mayo Clinic researchers established that in 64 patients seen in their institution since 2000, 84% present an endocrinopathy concerning one of the four major axes (gonadal, thyroid, glucose homeostasis, and adrenal). The authors recommend a thorough endocrine investigation in patients presenting with this syndrome.
Read the PubMed abstract

Mayo Clin Proc ; 836-842 ; July 2007
Gene Therapy
Combination brain and systemic injections of viral vectors prove promising in the Niemann-Pick mouse
Niemann-Pick disease is a lysosomal disease caused by the loss of acid sphingomyelinase (ASM) activity, which results in widespread accumulation of undegraded lipids in cells of the viscera and central nervous system. Earlier mouse disease model studies have shown that brain or systemic injections of viral vectors encoding human ASM reduce the lipidic surcharge but do not lead to long-term functional improvement. The authors of this study combined the two approaches and observed an improvement in motor and cognitive function linked to a reduction of lipidic surcharge. Moreover, the mice did not develop antibodies against the human enzyme, suggesting that the systemic injection allows better tolerance and improves the efficacy of brain injection.
Read the PubMed abstract

PNAS ; 9505-9510 ; 29 May 2007
Therapeutic Approaches
TRO19622, a potential drug candidate showing results in ALS mouse models
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive death of cortical and spinal motor neurons, for which there is no effective treatment. Trophos, a French biopharmaceutical enterprise specialising in the development of medicines for neurodegenerative diseases, has developed various compounds capable of preventing motorneuron death in vitro. In this study, one of these compounds, TRO19622, improved motor performance, delayed onset of the clinical disease and extended survival in transgenic mouse models of the disease.
Read the PubMed abstract

J Pharmacol Exp Ther ; 709-720 ; August 2007

Patient Management and Therapy
EMEA issues data review of inhibitor risk for haemophilia products
Recombinant factor VIII (FVIII) products are used to prevent and treat bleeding in haemophilia A patients. The development of antibodies (inhibitors) in response to FVIII products is a natural immune system response to a foreign protein. Yet in previously treated patients, inhibitor development may be due to the characteristics of specific products. Thus the EMEA has conducted a review of the data collected since 2003 on FVIII products and the risk of developing inhibitors. The conclusions determine that it is not possible to estimate and compare inhibitor incidence between different products. However, a trend emerges for recurrence of low-titre inhibitors after switching from one FVIII product to another in previously treated patients with 100+ days of exposure. The EMEA does not recommend changing established treatment schemes, though a warning is being added to the listed characteristics for each product. Companies holding marketing authorisations are being requested to undertake further investigation on the matter and patient and haemophilia centre cooperation is urged. Read the EMEA public statement.
Management guidelines for mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease characterised by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. In this study, an international group of experts present a set of guidelines for the management of patients with mucopolysaccharidosis VI. These guidelines provide a detailed outline of disease manifestations by body system, recommendations for regular assessments, and an overview of current treatment options. Read the PubMed abstract
Pediatrics ; 405-418 ; August 2007
Leptin replacement treatment shows promise in children with Berardinelli-Seip congenital lipoatrophy
Berardinelli-Seip syndrome is a rare congenital lipoatrophy with a severe prognosis and no efficient therapy. Children present with low leptin levels and severe metabolic complications (insulin resistance, elevated triglyceride levels, and hepatic steatosis). The French research team tested the safety and efficacy of recombinant-methionyl-human leptin replacement in seven children with Berardinelli-Seip syndrome before development of severe metabolic disease. After four months of daily treatment, metabolic complications were reduced or reversed in the children.
Read the PubMed abstract

Pediatrics ; e291-296 ; August 2007
Chemotherapy preferred to radiotherapy in the adjuvant treatment of intracranial ependymoma in children
Over half of childhood intracranial ependymomas occur before age 5. As an adjuvant treatment, radiotherapy can be effective, but has the potential to damage the child's developing nervous system at a crucial time-with a resultant reduction in IQ and cognitive impairment, endocrinopathy, and risk of second malignancy. The authors aimed to assess the role of a primary chemotherapy strategy in avoiding or delaying radiotherapy in children younger than 3 years with intracranial ependymoma. This protocol avoided or delayed radiotherapy in a substantial proportion of children younger than 3 years without compromising survival. These results suggest that primary chemotherapy strategies have an important role in the treatment of very young children with intracranial ependymoma.
Read the PubMed abstract

Lancet Oncol ; 696-705 ; August 2007

Orphan Drugs
FDA approves Somatuline Depot for rare disease acromegaly
In the US, the FDA has approved Somatuline Depot (laneotide acetate injection) for the treatment of acromegaly,a rare disorder caused by the over-production of growth hormone usually by a benign tumor of the anterior pituitary gland. Acromegaly occurs in approximately 60 people per million. Somatuline Depot is produced by Ipsen.
Glioblastoma treatment manufacturer clarifies authorisation status
Following a press release announcing the authorisation in Switzerland of DC-Vax Brain for the treatment of malignant astrocytic brain tumour, known as glioblastoma, manufacturer Northwest Biotherapeutics has issued a statement clarifying that authorisation in fact pertains only to “import/export” and is conditional upon the fulfilment of implementation commitments. The press release also notes that safety and efficacy evaluations have not yet been conducted by Swissmedic, Switzerland’s medicinal product regulatory agency.

Rare disease funding opportunities
The US National Organization for Rare Disorders (NORD) has posted several funding opportunities from member organizations, amongst which the Kennedy's Disease Association, Tourette Syndrome Association, Children's Cardiomyopathy Foundation, and the Cornelia de Lange syndrome Foundation. For more details.

Partnersearch, Job Opportunities
Gene therapy and molecular imaging lab positions
One Senior Post-Doc position and one Post-Doc position are available at the Laboratory for Gene Therapy and Molecular Imaging in Cologne (Germany).
For more information


News from the Patients' Associations
GEISER newsletter details latest Latin American rare disease actions
GEISER, the Latin American and Caribbean countries' rare disease initiative designed to pool rare disease information and resources, was featured in the 14 June issue of OrphaNews Europe. Since that time, founder Dr. Virginia LLera has been as busy as ever battling for rare disease patients in her region, as the group's latest newsletter reveals. Internally, GEISER is working to group together various small patient groups and individuals to create a stronger affiliation. Another facet of the internal effort involves lobbying governments, health professionals, industry, media and educational institutions for support. Externally, GEISER is continuing to cultivate relationships in North America and Europe. Dr. LLera has met with leaders from Orphanet, Eurordis and the US Office of Rare Diseases in recent months. The first Latin and South American Rare Disease and Orphan Drugs Congress is scheduled for 27-29 March 2008 in Buenos Aires.

What's on Where?
Sixth International Myotonic Dystrophy Consortium
Date: 12-15 September 2007
Venue: Milan, Italy

This conference will cover a broad range of topics from DNA instability to future advances for treatment.
For more information

Rare Diseases Research: Building on Success - a European Conference
Date: 13 September 2007
Venue: Charlemagne Building, Brussels, Belgium

Member States and the European Parliament on the research needs in this area, providing the rare diseases community with the opportunity to express their needs in terms of research, and the EC with input for future FP7 calls for research proposals.
For more information
To register

4th Stem Cell Gene Therapy Conference
Date: 13-17 September 2007
Venue: Halkidiki, Thessaloniki, Greece
More details

International Conference on Rare Diseases and Orphan Drugs (ICORD)
Date: 14-15 September, 2007
Venue: Brussels, Belgium
More details

British Human Genetics Conference
Date: 17-19 September 2007
Venue: York, UK

Topics include developmental and paediatric genetics, complex disease genetics, and consanguinity and genetic disorders
For more information

Italian National Project on Standardization and Quality Assurance of Genetic Tests Fifth Annual Workshop
Date: 20 September 2007
Venue: Istituto Superiore di Sanita, Rome, Italy

The event will be organized into two main sections: the OECD Guidelines for Quality Assurance in Molecular Genetic Testing will be presented and the experience of the European Molecular Genetics Quality Network (EMQN) will be presented along with the impact of EuroGentest on External Quality Assurance in Genetics within Europe. During the second section the results of five years of activity obtained by the 80 Italian public laboratories will be discussed. Finally, the new Italian guidelines for cytogenetics diagnosis elaborated by the Italian Society of Human Genetics (SIGU) will be presented.
For more information

EuroGentest Workshop on internal auditing for genetic testing laboratories
Date: 20-21 September 2007
Venue: Leuven, Belgium

Registration is open for this EuroGentest workshop on internal audit for genetic testing laboratories that will feature presentations, role play, video fragments and group discussions on how to prepare, execute and report internal audits. Registration deadline: 15 July 2007

More details and to register now
The Third World Congress of Alpha1-Antitrypsin deficiency patients
Date: 28-30 September 2007
Venue: Rome

Each participating country/group will be expected to give a short presentation to the congress on patients, possibilities and problems in their area to provide a perspective on the Alpha-1 situation world-wide.
More details

NORD 2007 Annual Conference
Date: 28-30 September 2007
Venue: Rockville, MD USA

Annual conference co-sponsored by NIH's Office of Rare Diseases for patients, families, medical professionals, educators, and anyone interested in rare diseases.
More details

Annual Workshop of the Italian Network for the Promotion of Folic Acid and Prevention of Congenital Defects
Date: 5 October 2007
Venue: Istituto Superiore di Sanita, Rome, Italy

Main topics will be the presentation and discussion of activities performed within the Network; up to date results concerning basic biomedical, clinical and social-healthcare research, nutritional status of the population, registration of congenital malformations, transfer of results from research to clinical practice, social-health care regulation, training, informing and updating practitioners and citizens, and risk-benefit assessment of prevention interventions.
More details including abstracts of the lectures will be available soon

EFGCP Children's Medicines Working Party 3rd Annual Conference on EU Paediatric Regulation
Date: 9 October 2007
Venue: Brussels, Belgium

First European Experiences & Strategic Outlook
With a pre-conference workshop on 8 October on the background of off-label drug use in children, US and EU paedriatric legislations, and the basics of child physiology and paediatric clinical trials.
More details on the conference and workshop.

8th EPPOSI Partnering Workshop on Orphan Drugs
Date: 18-19 October 2007
Venue: Copenhagen

This year's workshop is dedicated to exploring the topic The Reality of Orphan Medicines and will provide a platform for consensus building and the cultivation of partnerships between patients, academia, and industry as well as European and member state authorities in order to convert policy issues and scientific developments into therapies for rare diseases.

More details and to register now

3rd International Meeting on Congenital Disorders of Glycosylation
Date: 18-19 October 2007
Venue: Paris

This international meeting on CDG is preceeded by the 3rd Orphan Focus Course on "Protein Glycosylation in Health and Disease" on Oct 16-17.

For more details on the course
More details on the conference

Biology and clinical applications of cord blood cells
Date: 19-21 October 2007
Venue: Paris, France
More details

4th European Conference on Rare Diseases (ECRD 2007)
Date: 27-28 November 2007
Venue: Lisbon, Portugal

This important rare disease conference will be held in English and simultaneously translated into French, German, Portuguese and Spanish.
More details

15th Annual Meeting, Int'l ALS/MND Associations Alliance & 18th ALS/MND Int'l Symposium
Date: 1-3 December 2007
Venue: Toronto, Canada
More details


Press & Publications
Could collaboration between rare disease organisations shape policies?
The August editorial of the medical review Nature Clinical Practice Rheumatology considers how rare disease patients can more effectively get their needs met. There are over 100 rare rheumatic diseases. To determine the areas of need of all RD patients, the authors randomly selected 115 US rare disease organisations to survey. Their findings were not surprising: funding emerged as the greatest obstacle facing patients and their families. The authors noted particularly that there was little interaction between organisations, each of which tends to advocate for its needs individually or in small groups. They thus recommend that the estimated 25 million rare disease patients in the US band together to lobby for those common needs that impact all rare disease patients, particularly research and social policy, drug cost and subsidisation, and reimbursement for health products and services.
Article calls for a harmonisation of newborn screening across Europe
The Journal of Inherited Metabolic Disease has published an article by Austrian and German researchers surveying newborn screening across Europe. Although by January 2007 seven European countries had expanded the number of tests administered to newborns, testing remains highly disparate, with some European countries testing just two disorders (phenylketonuria and medium-chain acyl-CoA dehydrogenase deficiency) while others test for 20. Although many testing centres participate in quality assurance and proficiency test schemes, few programmes report the number of positively identified cases. The authors consider the differences observed to be arbitrary considering the similarity of many European country health systems and call for a harmonisation of screening practices and procedures at a European level.
The motor neurone disease handbook
Providing an up-to-date review of most important aspects of motor neuron disease, with an emphasis on clinical management and treatment.

Author: Matthew C. Kiernan, -Ed
Publisher: Australasian Medical Publishing Co, 2007

Fanconi Anemia
Fanconi amemia is a rare genetic disease characterised by short stature, skeletal anomalies, and increased incidence of solid tumours and leukemias. This book provides case reports, current genetic information, pre- and post-natal diagnostic approaches, and investigates several potential management and treatment strategies.

Authors: Detlev Shindler and Holger Hoehn -Eds
Publisher: Karger, 2007


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
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Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Claire Scharf-Kroener, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
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