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Centre de recherche

Exome Sequencing Solves a 100 Year Old Mystery

Scientific Conference

Thursday 9 April 2015 from 08:15 at 09:15


Stephanie Seminara, PhD

  • Associate Professor of Medicine, Harvard Medical School
  • Assistant in Medicine, Massachusetts General Hospital

Dr. Seminara studies the genetics of idiopathic hypogonadotropic hypogonadism, a disease characterized by delay of pubertal development and infertility.The broad goal of Dr. Seminara's work is the elucidation of the genes that cause congenital, idiopathic hypogonadotropic hypogonadism (gonadotropin releasing hormone [GnRH] deficiency) and the exploration of genotype/phenotype correlations for patients with this disorder. Identification of the genes that modify GnRH secretion is critical to advance the understanding of normal reproduction. Human “knock out” models of isolated GnRH deficiency represent a unique biologic opportunity to identify the gene(s) relevant to GnRH secretion.

To date, the genetics of idiopathic hypogonadotropic hypogonadism (IHH) has been challenging to elucidate, as this condition is characterized by rich clinical and genetic heterogeneity, variable modes of inheritance, and association with other anomalies. Selected genetic approaches have highlighted the fact that children of marriages between related individuals heterozygous at a given genetic locus have a high probability of being affected due to homozygosity by descent. Inbred populations of patients with autosomal recessive, idiopathic hypogonadotropic hypogonadism that demonstrate clear founder effects have been assembled.

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Updated on 4/8/2015
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