Summary

The House of Orphan Diseases

Maison des Maladies Oprhelines (MMO)

The needs:

There was a tremenous demand from patients and their families for the creation of a solidarity space for orphan diseases. Although more than 5 000 rare diseases have been recorded, there are only a few hundred support associations. Therefore, thousands of people stay alone and are faced with multifaceted problems and no easy anwsers to those problems.

A pilot project:

The A.F.R.G. opened at the beginning of 1998, the first meeting place in France, providing orientation and information d.edicated solely to orphan genetic diseases, the MMO "Maison des Maladies Orphelines" It is located in the 6th Arrondissement of Paris, near the School of Medicine.

To date, the MMO has provided support and orientation for more than 3500 people, representing 900 different diseases.

A web site:

http://www.afrg.org , it is easy to remember. Since iwent online in december 1998, 18 000 connections have been registered (more than 1000 per month).

The Internet is now part of our everyday's life. Patients and their friends can contact directly the MMO through the web and leave messages and demand of informations and contacts.

They can also discover the activities of the AFRG and the latest news:

- News about the major fund-raisaing event 'Red Nose Days' with a clickable map of France for regional events. and alink to the site http://www.nezrouge.com.

- Announcements for research fellowships.

- Medical Information on the orphan diseases support groups affiliated to the AFRG, from the booklet distributed to health professionnals "Orphan Genetic Diseases: To know more"..

- The text of the Inter-Associative Workshop on the "familial and social impacts of orphan genetic diseases" and the "Chart of Rights for People affected by Orphan Genetic Diseases.

RESEARCH GRANTS & FELLOWSHIPS

Financial support to young investigators:

To support research on orphan genetic diseases is a major objective for the AFRG. It helps to restore confidence in the future in families faced with the daily suffering of one of their members.

It is also a first acknowledgement of the existence of these diseases by the medical profession.

In 1998: Three Research Fellowships

Three research Fellowships for a D.E.A. project (équivalent to an M.Sc) have been awarded in October 1998. This award of 80 000 FF each was given by our scientific council, with the support of the BIOGALENIQUE laboratory, the generic branch of Rhone- Poulenc. Rorer (now Aventis)

Study of the migration of glioma cells in Neurofibromatosis 1 patients.

A cellular model for migration of glioma cells was developed and a clinical network for registration of NF patients with gliomas was established.

This student graduated at the head of her group and is pursuing her PhD thesis on the subject.

Study of mutations in Neuropathies Amyloides Héréditaires (NAH)

Subpopulations of NAH families were studied to characterize their mutations and to investigate modifying factors for onset and severity of clinical manifestations.

The laureate will continue its career as a neurologist in a department dedicated to the investigation of rare neurological disorders.


Study in health economics: Establishments of Networks for Orphan Genetic Diseases

The individual trajectories of patients with rare diseases have been evaluated and recommandations on networks of carefor orphan diseases have been issued. The results have been put on our web site http://www.afrg.org under "The second Assises".

The laureate has graduated on top of her class and has undertaken a PhD thesis on orphan drugs.

In 1999:

Three Research Fellowships & a Research Grant

A Resarch Grant for the Lowe Syndrome:

In 1999, a research grant (100 000 FF) was awarded for genotype-phenotype correlation studies on the OCRL syndrome ( Lowe Syndrome) where 40 different mutations (one per family) have been identified in France.

Two M.Sc. Fellowships:

A Murine Model of Erythropoietic Protoporphia

The laureate will pursue her work in her PhD Thesis at the Pasteur Institute

Mapping of a gene for a leucodystrophy without cause associated with albinism and a chromosomal microdeletion.

After completion of his degree, the laureate has secured a position as a neurogeneticist in the Bordeaux Genetics Group of Pr Didier Lacombe..

A PhD Fellowship:

Identification of mutations involved in the Angelman Syndrome( 15q11q12)

During her third year, the laureate has identified 5 new mutations in the UBE3A gene and has perfected the Truncated Protein Test for detection of mutant proteins in the Angelman syndrome. This will be presented at the first world congress on Angelman syndrome.

During her fourth year, she will investigate the genetic links between Angelman and a specific form of epilepsy.

In 2000: Seven Research Grants and Fellowships

THE FUTURE:

Financial support to young scientists throughout their scientific career on orphan diseases.