Edition of 06 April 2010

The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in the first three decades of life. Ten causative genes (NPHP1-NPHP9 and (NPHP11), whose products localise to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are "ciliopathies". In two families with an NPHP-like phenotype, the authors detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl aminopeptidase 3 (XPNPEP3) gene. In contrast to all known NPHP proteins, XPNPEP3 localises to mitochondria of renal cells. However, in vivo analyses also revealed a likely cilia-related function.
Read the PubMed abstract

The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies provided evidence that the subretinal administration of adeno-associated viral (AAV) vectors encoding RPE65 in patients affected with LCA2 due to mutations in the RPE65 gene, is safe and, in some cases, results in efficacy. The authors evaluated the long-term safety and efficacy (global effects on retinal/visual function) resulting from subretinal administration of AAV2-hRPE65v2. Both the safety and the efficacy noted at early timepoints persist through at least 1.5 years after injection in the three LCA2 patients enrolled in the low dose cohort of this trial. A transient rise in neutralizing antibodies to AAV capsid was observed but there was no humoral response to RPE65 protein. The persistence of functional amelioration suggests that AAV-mediated gene transfer to the human retina does not elicit immunological responses which cause significant loss of transduced cells.
Read the PubMed abstract

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

Date: 22 April 2010
Venue: Washington, DC USA

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

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

Date: 3-7 May 2010
Venue: Geneva, Switzerland

The Department of Genetic Medicine and Development at the University of Geneva in collaboration with ECOGENE21, the International Society of Community Genetics and Genomics, World Health Organization Department of Reproductive Health and Research, and the European Genetics Foundation, is organizing a workshop to increase awareness about the impact of consanguinity on health, to establish basic counselling recommendations on issues involving close kin unions and to promote research into the impact of consanguinity on reproductive behaviour, morbidity, and mortality, with particular focus on the association of consanguinity with non-communicable (complex) disorders and quantitative traits.
For further details

Date: 10 May 2010
Venue: London, England

Bring together regulatory, academic, and industry scientists to share their experiences in the development of stem cell-based cell therapies, within the context of Advanced Therapy Medicinal Products (ATMPs), this workshop will focus on scientific requirements specific to stem cell-based ATMPs. By fostering global dialogue in this innovative field of cell therapy, the EMA intends to stimulate the discussion on the requirements and methods considered acceptable for stem cell-based therapies and to support their development.
For further details

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.
For further details

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

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

Date: 8 June 2010
Venue: London, England

The 2010 GIG conference will focus on important developments in patient partnership in healthcare. The afternoon will be dedicated to Rare Disease UK and will be focused on gaining views on how services for patients and families with rare diseases can be improved.
For further details

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

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

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

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

Date: 3-4 August 2010
Venue: Minneapolis, Minnesota

Over two days, FDA staff from the Office of Orphan Products Development (OOPD) will provide regulatory assistance to sponsors to find regulatory paths forward. Most of the time will be spent in application writing and individual one-on-one guidance sessions to develop the strongest possible orphan designation application to be submitted at the close of the workshop.
For further details

Date: 2-4 September 2010
Venue: Berlin, Germany

Amongst the programme of this congress will be a session entitled “Rare diseases: a common problem!” featuring the anaesthetic management of a child with a rare disease; approaches to rare diseases at the national and European level; and the OrphanAnaesthesia project. Deadline for abstract submission: 18 May 2010.
For further details

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