26 Jun 2012

Advances in rare diseases

Illustration for article: Advances in rare diseases
With the support of its donors, AFM-Téléthon is helping develop new treatments which have proved their efficacy for the first patients and are providing medicine with new tools and new approaches which can be used to fight all diseases. In less than 20 years, gene therapy has moved from the exploratory stage to therapeutic reality for the first diseases, such as immunodeficiencies or adrenoleukodystrophy. Stem cells are also revealing promising prospects for the medicine of the future. Read six stories which illustrate the progress made using Telethon support.

Maps of the human genome

The Généthon laboratory, created in 1991 by AFM-Téléthon using the first Telethon funds, has distinguished itself with its exclusive world publication of the first map of the human genome. This work has affected the world's human genetics research sector deeply and sustainably. For patients, these advances have led to more accurate diagnosis and appropriate medical care.

Bubble babies: the first children cured

It was in France in 2000 that Prof. Alain Fischer and Dr Marina Cavazzana-Calvo (Inserm, Necker Sick Children's hospital) announced for the first time that babies with no immune defences (X-SCID) had left their sterile bubble to live a normal life, thanks to a gene therapy trial. Eight years later, Dr Maria Grazia Roncarolo's team (Tiget hospital, Milan) co-financed by the French and Italian Telethons, announced that she had successfully treated 12 children suffering from ADA-SCID immunodeficiency. 

Accelerated ageing disease: hope

Progeria is an extremely rare form of accelerated ageing. The causes of this very rare disease seem to be very similar to normal ageing mechanisms. Understanding and developing an initial treatment for progeria is therefore generating prospects for the greater number.

Restoring sight through gene therapy

Leber's amaurosis is a congenital form of retinitis pigmentosa, a disease characterised by progressive, gradual loss of vision. It was in Nantes that the hope of treating this rare disease was ignited. A collaboration between Fabienne Rolling's team at the Nantes gene therapy laboratory, using AFM-Téléthon support provided by Telethon pledges, the ophthalmology department at Nantes University Hospital and the Nantes veterinary college, has led to the first gene therapy trial against retinitis pigmentosa in briard dogs.

First success for a genetic brain disease

In 2009, two young children suffering from adrenoleukodystrophy, a fatal brain disease, were successfully treated using a new gene therapy vector, a treatment developed by Prof. Patrick Aubourg and Dr Nathalie Cartier (Saint-Vincent de Paul hospital, Inserm). It will have taken this team, long supported by AFM-Téléthon using Telethon donations, 16 years of research to reach completion of this therapeutic trial.

Stem cells to rebuild the skin

The I-Stem team, led by Marc Peschanski and funded with Telethon donations, thought of rebuilding an entire epidermis from human embryonic stem cells. Challenge successfully met in 2009! For the researchers, this work has great prospects. These "ready to use" cells will be offered to produce epidermal cells to treat major burn patients, but also for other genetic skin diseases.