Institut Pasteur
25 rue du Dr Roux
75724 Paris
France

 www.pasteur.fr 

Project Leader

Dr. Ken McElreavey Phone: 0033-(0)1-4568-8920  Fax: 0033-(0)1-4568-8639  Contact

Project Staff

Institute Presentation

The Institut Pasteur is a non-profit private foundation which contributes to the prevention and treatment of disease through research, education, and public health activities. The Institut Pasteur brings together these three fields of activity - research, education and public health- on its Parisian campus with almost 2500 individuals, within an independent international network of Pasteur institutes, which constitutes an original and autonomous body, the only one of its kind in the world. The institute has 146 research groups, 21 technical platforms and, at any one time, the institute has more than 1000 students or trainees on the campus.

The unit of Human Developmental Genetics, lead by Dr Ken McElreavey, has more than 17 years of experience in genetic analysis of Disorders of Sex Development (DSD). The unit has a primary focus on using various types of genetic approaches to understand human sex development and the group has published more than 60 peer-reviewed articles specifically related to this topic. This has included the identification of the genetic basis of Fasier syndrome and the identification and characterisation of several genes that play a role in urogenital development. The unit is interested in using the latest technological approaches to understand the basic mechanisms that determine the formation of the urogenital system in the human. Much of this work involves the detailed genetic analysis of individuals with a range of phenotypes from simple hypospadias or cryptorchidism to patients with 46,XY gonadal dysgenesis or gonadal agenesis. These may be either sporadic cases or relatively rare familial cases.

The objective of the unit is to identify the genetic factors that govern the development of the gonads and to understand how errors in these factors can lead to the spectrum of urogenital anomalies that are seen in the clinic. Our studies of human sex development can help to address several key biological questions involving cell-fate determination, gene expression and hormonal signalling. In addition to these basic biological questions our research should, in the short term, lead to a more knowledge-based approach to the diagnosis of these conditions with the transfer of diagnostic procedures from the laboratory to the clinic. In the longer term, it should open possibilities to develop novel knowledge-based therapies.