TSC Alert

In Memoriam: Margaret Susan (Sue) Povey, 1942–2019

The TS Alliance is deeply saddened by the passing of Sue Povey, whose work contributed to some of the largest discoveries in the genetics of TSC. Our heartfelt condolences go out to Professor Povey’s friends and family.

Below is a note from her friend and collaborator, David J. Kwiatkowski, MD, PhD, of Brigham and Women’s Hospital:

In 1991, I attended my first international meeting on tuberous sclerosis complex in Nottingham, England.  It was a very special meeting for me as I had the opportunity to meet all the current and many future leaders in TSC clinical care and research, including Manny Gomez, Vicky Whittemore, and Sergiusz Jozwiak to name a few.  I also met Professor Sue Povey at that meeting, which was particularly special.

Sue was a lifelong geneticist dating back to her college days at the University of Cambridge.  She joined the staff of the MRC Human Biochemical Genetics Unit, University College London, where she rose to become Deputy Director and Haldane (a legendary geneticist) Professor of Human Genetics.

Sue made very important contributions to TSC research for many years.  She was a key investigator on the first report of genetic linkage to chromosome 9, beginning the study of the genetics of TSC; she contributed in a major way to the discovery of the TSC1 gene; and she contributed to the TSC diagnostic criteria and management guidelines published in 2012.  Arguably most importantly she set up and supervised the LOVD TSC mutation database for the past 15 years, maintained by Rosemary Ekong. This resource is used on a regular basis by numerous TSC researchers, clinical geneticists, and patients around the world.

But I will remember Sue best for her wonderful positive attitude and cheerful willingness to share samples and data freely toward a common goal, something made very clear in our collaboration that led to the identification of the TSC1 gene in 1997.  I will always remember her as a wonderful role model in science and as a friend.