GENETICS OF RARE DISEASES OF DEVELOPMENT
Associated Rare Diseases Reference Center: SOOR
- Rubinstein-Taybi – [D. Lacombe]
- Goldenhar – [C. Rooryck-Thambo]
- Albinism – [B. Arveiler & S. Javerzat]
- Rasopathies – [R. Rossignol]
Associated Rare Diseases Reference Center: NEUROGENE
Neurodegeneration with Brain Iron Accumulation – [P. Fergelot]
MITOCHONDRIAL DISEASES AND METABOLISM
Associated Rare Diseases Reference Center: CARAMMEL
- Stimulation of Oxidative Phosphorylation – [R. Rossignol]
- Regulation of Mitochondrial Turnover – [G. Bénard]
- Immune Functions of Mitochondrial Metabolism – [J. Garaude]
- Contract Research Organization: CELLOMET – [N. Dias Amoedo]
- Physiopathology Analalysis of Hereditary Spastic Paraplegia Type15 – [N. Bellance]
- Lipid Metabolism – Neurotoxic Molecules – [P. Babin]
Rare Diseases: Genetics and Metabolism 