Rett syndrome (RTT) is a rare neurodevelopmental disease. Mutations in MECP2 (located on the X chromosome) are the most common cause. However, mutations in other genes such as CDKL5 and FOXG1 have been reported to produce a Rett-like phenotype. How these different genetic defects determine similar clinical features has yet to be elucidated. Italian researchers […]
Author Archives: Linda Cassis
12 posts published by Linda Cassis
Autism, what we know (and what we don’t know yet)
Wendy Chung, the director of clinical research at the Simons Foundation Autism Research Initiative (SFARI) in New York City, is also a geneticist and pediatrician. In this nice and interesting TED conference, she gives clear answers to the most common questions about autism. What are the causes? Why males are more affected than females? What […]
Sphingolipids and brain, when friends become foes
Lipids constitute approximately half of the dry weight of the brain, their composition and quantity can vary throughout life and generic defects in their synthesis or metabolism can lead to impaired brain development and neurodegenerative disorders, both in children and adults. However, we do not know everything about lipids and it is not surprising that […]
Small-molecule cocktails can convert fibroblasts into functional neurons
Last August, the cover of the prestigious journal Cell Stem Cell, was dedicated to a pioneering discovery made by two independent groups that obtained functional neuron cells from human and mouse fibroblasts cultured with a cocktail of several small molecules. This finding may position these Chinese researchers at the cutting edge of translational and regenerative […]
Prognosis of patients with nonketotic hyperglycinemia, is it feasible?
Nonketotic hyperglycinemia (NKH) is a rare genetic disorder caused by a defect in the machinery for the breakdown of the amino acid glycine . Above all, it is a very complex disease, since it does not affect all the patients the same way. Because of the huge differences observed in the outcome, researchers from United […]
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