Dr Anne-Marie Tassin leads the team « Biogenesis and functions of centriolar and ciliary structures » at the CNRS Institute I2BC in Gif sur Yvette, France.

Her research focuses mainly on the centrosome and its cilia associated structure. Inborn defects in human cilia result in patho-physiological conditions associated with diverse clinical manifestations called ciliopathies. These pathologies display numerous clinical features including sterility, obesity, retinal degeneration and skeletal defects.

Recently, the team discovered a functionally uncharacterized protein, localized at the centrosome, microtubule + ends and focal adhesions and is involved in cilia formation (Greibill et al, submitted). In mice, the gene is strongly expressed in the notochord and in intervertebral disc cells (Abe et al, 2012). Genetic studies performed in mouse report the involvement of KIAA1217/SKT in intervertebral disc (IVD) malformations leading to tail curvature (Semba et al 2006) and in humans, mutations in KIAA1217 are associated either with lumbar disc herniation (Dai et al, 2024) or vertebral malformations (Al Dhaheri et al, 2020).