Edition of 09 February 2011

Share:

Editorial

Ask not what Rare Disease Day can do for you…

What can YOU do to support International Rare Disease Day this year? Does your country have a petition to be signed? Is there a benefit to attend? A march to join? International Rare Disease Day is an annual awareness-raising event coordinated by the European Organisation for Rare Diseases (EURORDIS) at the international level and by the National Alliances of Patient Organisations at the national level. In 2010, a record 46 countries participated - making it a truly international campaign. Everyone concerned by rare diseases - researchers, health professionals, public authorities, members of industry and patients - is encouraged to join this year's campaign as Friends of Rare Disease Day. Friends can help raise awareness by posting the Rare Disease Day logo and linking to the Rare Disease Day website from their own websites. See who has signed up so far

The focus of this year’s event is Rare Diseases and Health Inequalities and the theme is Rare but Equal. At the European level, the symposium Rare but Equal - Addressing Health Inequalities for Rare Disease Patients in Europe, will take place in the International Press Centre in Brussels. Attendees will include patients and patient representatives, health professionals from rare disease centres of expertise, social researchers and academics, members of the EU Committee of Experts on Rare Diseases, industry representatives, and high-level officials of the European Medicines Agency and the European Commission’s DG Health and Consumers, DG Employment and Social Affairs, and DG Justice, Fundamental Rights and Citizenship. The programme will be devoted to presenting the rare disease landscape in Europe and to demonstrating prevalent inequalities through case studies and surveys. To learn more about this and other specific activities being planned in your country, or to register an activity you are hosting, visit the Participating Countries page of the Rare Disease Day website.

OrphaNews Europe encourages all readers to get involved – 28 February is the day to put rare diseases in the spotlight!

Spotlight on...

Turkey’s Hacettepe School of Medicine DNA/Cell Bank furthers understanding of rare diseases

Due to its high rate of consanguinity, Turkey has an opportunity to offer scientific contributions in the field of genomics of autosomal recessive diseases by defining new phenotypes and identifying new genes and relevant pathways. The DNA/Cell Bank at Hacettepe Medical Center has been instrumental in creating a working environment that is in line with international guidelines of governance and ethics for biological repositories. Since its foundation, the repository of the DNA/Cell Bank has facilitated collaborations leading to the identification of new disease genes, including: Megalencephalic leukoencephalopathy with subcortical cysts, MLC (MIM 604004); Ceroid Lipofuscinosis, neuronal, 7, CLN7 (MIM 610951); Heterotopia, periventricular, autosomal recessive (MIM 608097); Chanarin-Dorfman syndrome, CDS (MIM 275630); Arachidonate 12-Lipoxygenase, R type, ALOX12B (MIM 603741); L-2-Hydroxyglutarate dehydrogenase L2HGDH (MIM 609584).

The DNA/Cell Bank was established at Hacettepe School of Medicine in 1995 to facilitate biomedical research into rare genetic diseases including identification of new genes, diagnosis, prevention and new treatment modalities. Another mission is to provide training for good laboratory practice and ethical guidelines for those who wish to establish biobanks at their institutions. Biological samples, along with personal and medical information from patients and families, serve to create a database that facilitates national and international partnerships in the area of rare diseases.

Turkey has a population of about 71 million, of which 28% is below the age of 15 years. Consanguinity in the general population is 21%, a figure which rises to 39% in the southern and south-eastern parts of the country. Hacettepe University Medical School was established in 1967 on the foundations of a paediatric hospital that began operating in 1957. The Medical Center hospital complex consists of the Children’s Hospital (241 beds, 163,835 outpatients/year, 4694 inpatients/year), the Adult Hospital (808 beds, 435,438 outpatients/year, 23,465 inpatients/year), and the Oncology Hospital (180 beds, 30,000 outpatients/year). Since 2007, the Adult Hospital has been accredited by the Joint Commission International. The high in/out-patient capacity and location in Central Anatolia makes Hacettepe Medical Centre a large reference centre for patients from eastern, south-eastern, northern and southern Anatolia, serving a population of about 30 million - almost half of the total population of Turkey.

Serving a large population from different geographic regions has been instrumental in establishing large patient registries and a bio-repository for genetic disorders that creates unique opportunities for genomics research. Demographic data indicate that the child bearing age runs quite long, especially in rural areas, and if a family has a rare disease, it is likely that there will be multiple affected siblings. Moreover, in rural areas, multiple generations live in one habitat, creating a favourable environment for genetic investigations, from which sampling from the complete family is easier to achieve. Homozygosity mapping technique is thus a favourable algorithm for genomics research.

Read the full report on the Hacettepe Biobank
Contact the Hacettepe Biobank

National & International Policy Developments

Declaration of principles for rare neurological diseases of childhood endorsed by stakeholders

A conference held at the European Parliament in December was the occasion for stakeholders – including Member of Parliament Amalia Sartori, scientists, medical professionals, patient groups, and industry – to endorse a Declaration of Principles for rare neurological disorders of childhood. Supported by the Brains for Brain Foundation, the European Brain Council, the Lysosomal Storage Disease Patient Collaborative, the Veneto Region and members of the pharmaceutical industry, the Declaration focuses on rare neurological conditions, which are largely inherited disorders and often fatal in childhood. Evoking the “new golden age” of science, the authors of the Declaration find that the “time is right for a new initiative” that will coordinate and unite existing stakeholders across Europe in order to improve diagnostics, treatment and care for these patients. Specifically, the Declaration seeks to “…promote and facilitate partnership and collaboration between physicians, researchers, patient advocates, carers, policy- and decision-makers and industry; to encourage and support research and the translation of scientific breakthroughs into clinical practice; to contribute to the establishment of a standard of care for patients with rare neurological disorders which is agreed across Europe; and to ensure equity of access to diagnosis, treatment and care”. Citing as one example the United Kingdom, where rare disease research receives less monies than common diseases, although, when taken collectively, rare diseases affect more individuals and rare neurological disease research lends solutions to common disorders such as Parkinson or Alzheimer disease, the Declaration aims to make funding for rare disease research more equitable. The Declaration calls for increased visibility and awareness for rare neurological conditions in order to improve diagnosis. In terms of treatment, the Declaration points out that brain disorders account for less healthcare costs than other diseases because there are fewer available treatments available and that there could also be “…a shortfall in healthcare provision, which may reflect both suboptimal training of clinicians in brain-related disorders and a shortage of material resources”. Because a majority of treatments are not curative for these diseases, the Declaration educes the benefits of centres of expertise that could “… specialize in the diagnosis, treatment and care of patients with rare neurological diseases”. The sponsors of the Declaration of principles for rare neurological diseases of childhood invite interested stakeholders to support this new initiative. Learn more The declaration can also be supported by sending an email to maurizio.scarpa@unipd.it

Other European news

Ethical, Legal & Social Issues

Orphanet News

New Texts

New Syndromes

New Genes

Research in Action

Fundamental Research

Clinical Research

Gene Therapy

Patient Management and Therapy

Orphan Drugs

Partnersearch, Job Opportunities

News from the Patients' Associations

Courses & Educational Initiatives

What's on Where?

Press & Publications

Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews Europe is supported by the European Commission's DG SANCO
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, 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 European Union Committee of Experts on Rare Diseases
Orphanet - All rights reserved

Editorial

Ask not what Rare Disease Day can do for you…

Spotlight on...

Turkey’s Hacettepe School of Medicine DNA/Cell Bank furthers understanding of rare diseases

National & International Policy Developments

Declaration of principles for rare neurological diseases of childhood endorsed by stakeholders

German scientists issue statement in support of preimplantation genetic diagnosis

French rare disease initiatives suffer setbacks

Other European news

New Bulgarian report offers some much-needed transparency in the area of orphan drug access

Ethical, Legal & Social Issues

Unmeasured costs … families who lose a child to cancer suffer financially too

Orphanet News

New Texts

New Syndromes

Autosomal recessive intellectual deficit with deafness, ankylosis, and hypophosphatemia associated with a novel ANKH mutation

A 6p21.3 deletion syndrome with intellectual deficit, drug-resistant seizures, facial dysmorphisms, and gut malrotation

New Genes

Autosomal recessive nonsyndromic sensorineural deafness type DFNB associated with functional null mutations of MSRB3

Craniosynostosis and syndactyly: copy-number variations involving the IHH locus are associated

Ophthalmo acromelic syndrome: SMOC1 gene mutations identified

Hereditary sensory neuropathy type I: atlastin-1 mutations at cause

Short-rib polydactyly syndrome, type Majewski: NEK1 mutations at cause

Nonsyndromic thrombocytopenia: mutations in ANKRD26 cause an autosomal-dominant form

Cowden and Cowden-like syndrome: germline KILLIN methylation is common

Neuroblastoma: LMO1 identified as an oncogene in severe disease forms

Research in Action

Fundamental Research

Mantle cell lymphoma: bortezomib resistance is associated with plasmacytic differentiation

Clinical Research

X-linked lymphoproliferative disease: manifestations, management and outcome

₂Fanconi anemia: spontaneous abrogation of the G DNA damage checkpoint has clinical benefits but promotes leukemogenesis

Congenital hyperinsulinism: first familial cases reported

Gene Therapy

Congenital Leber amaurosis: gene therapy in second eye of RPE65-deficient dogs improves retinal function

βBeta thalassaemia: genomic safe harbors permit high -globin transgene expression in induced pluripotent stem cells

Patient Management and Therapy

Retroperitoneal fibrosis: combined prednisone and mycophenolate mofetil potentially effective

Orphan Drugs

A discrete-choice experiment finds that rarity alone is not enough…

COMP approves first designations for fragile X and MNGIE syndrome treatments at January meeting

Partnersearch, Job Opportunities

Cystic Fibrosis Europe has a vacancy for an Operations Manager

GSK offers internship position in its rare disease unit

News from the Patients' Associations

New guides for chromosomal disorders available from Unique charity

Courses & Educational Initiatives

Course on practical clinical, radiological and pathological diagnosis of skeletal tumours

Rare Solid Cancers: An Introduction

European Advanced Postgraduate Course in Classical and Molecular Cytogenetics

ESH Enerca Training Course on Haemoglobin disorders: Laboratory diagnosis and Clinical Management

Update in Neuromuscular Disorders

Master of Science in Haemoglobinopathy

Orphan Academy 2011 programme

EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

What's on Where?

2nd Annual Commercialisation & Market Access Strategies for Orphan & Ultra-Orphan Drugs

3rd International Adrenal Cancer Symposium: From Molecular Pathogenesis to Clinical Outcome

Fourth Berlin Conference on IP in Life Sciences: Rare Diseases – Blockbusters in the Niche

EUROPLAN Final conference

4th International Symposium on Pulmonary Rare diseases and Orphan Drugs

Third International Symposium on Paediatric Movement Disorders

Genetic Diseases of Children…Advancing Research & Care

Second ASID Congress of the African Society for Immunodeficiencies

Human Genome Meeting 2011: Genomics of Human Diversity and Heritable Disorders

11th International Congress of the European Society of Magnetic Resonance in Neuropediatrics

CliniGene Network of Excellence: Gene Transfer and Therapy: State of the Art and eCHiPS - European Conference on Human iPS

World Orphan Drug Congress USA 2011

Awakening Australia to Rare Diseases: Global perspectives on establishing a coordinated approach to a national plan

Fourth International Congress of Myology

The Third Birt-Hogg-Dubé Symposium

12th International Conference on Thalassaemia and the Haemoglobinopathies

Ninth European Paediatric Neurology Society Congress

First International Symposium on Childhood, Adolescent and Young Adult Hodgkin Lymphoma

Fifth Meeting on the Molecular Mechanisms of Neurodegeneration

3rd Symposium on Disorders of Sex Development

Ninth Hereditary Hemorrhagic Telangiectasia International Scientific Conference

VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2011)

Eighth European Cytogenetics Conference