Certain DNA mutations can cause very serious diseases which are associated with disability. To help patients with neuromuscular disorders, Judith Melki has devoted herself to studying the mechanisms that cause these conditions. Her research could lead to the development of key treatments.

Spinal muscular atrophy, the result of a genetic anomaly

Spinal muscular atrophy is the second most common recessive disorder in Europe, after cystic fibrosis. It affects 1 child in 6000, and A DNA mutation causes the degeneration of motor neurons, the nerve cells that control muscle movement. Spinal muscular atrophy causes muscle weakness that can vary widely in terms of severity. This condition is associated with severe disability and early mortality. 

To help patients suffering from this disorder, research is vitally needed to better understand what triggers the condition. Judith Melki’s work could provide the key to finding new therapeutic approaches.

Understanding to find a cure

Since the 1980s, Judith Melki has been working to advance our understanding of degenerative motor neuron diseases. These disorders cause severe disability in both children and adults. One of the researcher’s major discoveries was identifying the defective gene responsible for spinal muscular atrophy. She called it the SMN gene. 

Professor Melki used genetic strategies in mice to dissect the mechanisms that cause neuromuscular disease in vivo. Her research project focused on three major diseases: spinal muscular atrophy, amyotrophic lateral sclerosis – which affects adults – and spastic paraplegia.

The Foundation’s support

Following this major discovery, the Fondation Bettencourt Schueller provided Judith Melki with support to continue her research projects. While the three diseases under study have completely different genetic bases, there are many similarities in their development.

The research conducted by Judith Melki’s team is helping to shed light on the molecular basis of motor neuron degeneration. Since being awarded this prize, the research team has developed mouse models for spastic paraplegia, to help them gain a better understanding of its origins and test new therapeutic approaches.

Judith Melki in a few words

Early on in her career as a physician and researcher, Judith Melki was involved in the fight against genetic diseases. While working as a researcher with Arnold Munnich, she identified the defective gene responsible for spinal muscular atrophy. Shortly afterwards, together with her team, she established the molecular basis of mild and severe forms of the disease and generated two mouse models. She designs therapeutic research strategies based on stem cells.

Importantly, she led her team to the discovery of a gene responsible for classic arthrogryposis, a common congenital neuromuscular disease in humans. In her research, she applies this understanding of genetic bases to provide insight on the link between motor neuron diseases and DNA and RNA metabolism.

  • 1990 PhD in Neurogenetics, Pierre and Marie Curie University, Paris

  • 1991 Doctor of Medicine, Paris Diderot University

  • 1991 Inserm Researcher, 1st Class, Hôpital Necker-Enfants Malades, Paris

  • 1994 Inserm Research Director, 2nd Class

  • 1996 Head of Research Team, Institute of Genetics and Molecular and Cellular Biology, Strasbourg

  • 1999 Director of the Molecular Neurogenetics unit, Génopôle d'Evry, Université Paris Sud

  • 1999 Head of medical genetics department, Centre hospitalier sud francilien, Evry

  • 2001 Liliane Bettencourt Prize for Life Science

Liliane Bettencourt Prize for Life Sciences

The Liliane Bettencourt Prize for Life Sciences rewards each year a researcher under the age of 45 for the excellence of their work and their remarkable contribution to their field of scientific research. This prize is awarded, depending on the year, to a researcher based in France or working in another European country. Twenty-seven winners have been awarded since 1997. From 2023, prize rewards the laureate up to 100,000 euros.

All the award-winners