Groundbreaking Discoveries

Identification of the genetic cause of Alternating Hemiplegia of Childhood

Researchers in the Center for Human Genome Variation, in collaboration with researchers from 13 different countries, discovered that mutations in ATP1A3 cause the majority of cases of alternating hemiplegia of childhood, a rare neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations (published in Nature Genetics, 2012).


Identification of genetic variants of viral control that provide new leads to vaccine development (published in Science, 2007).

Personalization of the Treatment of Hepatitis C

Identification of genetic variants (Il28) that strongly predict who will and who will not be cured of virus by the standard of care treatment, opening the way to the personalization of treatment for Hepatitis C and the development of tailored therapies (published in Nature, 2009)

Identification of gene variants that predict who will and who will not suffer significant anemia during the standard of care treatment for chronic Hepatitis C, potentially expanding the proportion of patients eligible for treatment (published in Nature, 2010).

Identification of genetic risk factors in Epilepsy and Schizophrenia

(published in American Journal of Human Genetics, 2010; PLoS Genetics, 2009).

Identification of the genetic cause of metachondromatosis, a rare bone growth disease, by sequencing the entire genome of a single patient

(published in PLoS Genetics, 2010).


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