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ACTH-independent Cushing’s syndrome (AICS) is a very rare condition ( < 0.6/million/yr) due to primary adrenal cortex dysfunction that causes chronic cortisol excess leading to significant morbidity and mortality. AICS can be due to bilateral or unilateral adrenocortical dysfunction. For bilateral d

Primary Microcephalies (PMs) are rare heterogeneous disorders resulting from insufficient production of mature neurons. Known causal genes are involved in cell-cycle control, DNA integrity, centrosome and spindle pole organization. Alterations to these processes may lead to isolated PM (MCPH) or PM

Duchenne Muscular Dystrophy (DMD) is a rare and devastating genetic disease of childhood manifested by progressive debilitating skeletal muscle weakness and wasting, and ultimately death. The Rudnicki group recently identified a role for Wnt7a/Fzd7 signaling in stimulating the regeneration of muscle

Amyotrophic lateral sclerosis (ALS) is a devastating, neurodegenerative disorder characterized by muscle weakness progressing to paralysis as a consequence of dysfunction and death of motor neurons. A striking number of genes implicated in pathogenesis encode proteins with functions in RNA metabolis

Retinitis pigmentosa (RP) is a hereditary rare disease of the retina leading to incurable blindness. When most photoreceptors degenerate and lost their ability to respond to light, a substantial quantity of dormant cone photoreceptors can persist. The RP retinal tissue therefore contains these dorma

Hereditary spastic paraplegia (HSP) defines a genetically heterogeneous group of disorders characterized by weakness and spasticity of the lower limbs, owing to retrograde degeneration of corticospinal axons. Recently, both genetic and functional studies, largely contributed by research from members

The aim of this project is to identify the pathogenetic mechanisms of two inherited thrombocytopenias both described for the first time by partner 1. The first, MYH9-related disease, is characterized by macrothrombocytopenia and mutations in MYH9 gene. MYH9 has been identified as a direct RUNX1 targ

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) are rare neuromuscular diseases lacking diagnostic biomarkers. During the last decade, our teams have demonstrated that cell adhesion molecules (CAMs) play a crucial role in the formation of the no

Despite the fact they constitute two thirds of the human genome, repetitive sequences are largely ignored. FSHD is an autosomal dominant disorder with a strong epigenetic component. Unlike the majority of genetic diseases, FSHD is not caused by mutation in a protein-coding gene. Instead, the disease