The 22q11.2 Society
www.22qsociety.org


Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Nicole Philip


Nicole Philip is a professor of medical genetics in Marseilles, France. She was trained as a pediatrician. At the end of her internship, she chose to specialize in medical genetics. She is in charge of the clinical unit of the Department of Medical Genetics of Marseilles and coordinates the Centre of Expertise for Developmental Anomalies of South France. The centre is affiliated with the national and European networks for rare developmental disorders, Anddi Rares and ITHACA, and hosts a clinic for 22q11.2 patients. The centre works closely with the French patient support group, Generation 22. Since 2004, Prof Philip has been responsible for the French training program for genetic counselors.

Nicole's research activity is mainly clinical. She has a particular interest in prenatal aspects of rare developmental disorders and has participated in many national and international collaborative projects. She has been involved in 22q11.2DS research since 1993, when Peter Scambler coordinated the first European project on DiGeorge syndrome, and continues to be heavily involved in the International Consortium on Brain and Behavior in 22q11.2DS. She organized the 5th Biennial International 22q11.2DS Meeting in Marseille in 2006.

Prof Philip is the author of more than 200 international publications and the editor of a French book on dysmorphology.

Editor's note: Prof. Philip-Sarles received the Angelo DiGeorge Medal in 2020.

Source: www.22qsociety.org/about/advisors/content.asp?s=97&p=117&pv=1

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