Lorraine Potocki, MD
I have been at Texas Children's Hospital since 1994, when I started my fellowship training in Clinical Genetics. I transitioned to a faculty position here in 1996, and have been caring for patients and families with genetic disorders ever since . My primary role involves the diagnosis, counseling, and management of individuals with developmental and genetic disorders. I work very closely with the Genetic and Pediatric residents and am one of many clinical faculty who provide insight and direction in their professional training. I direct the medical student curriculum in Genetics, teach and evaluate the students in their pre-clinical and clinical years, and serve on curriculum committees at the School of Medicine and School of Allied Health Sciences. I co-direct the Genetics Track at Baylor College of Medicine which serves to engage medical students in the field of medical genetics throughout the four year medical school program.
My clinical expertise and research involves the multi-disciplinary clinical study and characterization of Smith-Magenis syndrome (SMS), duplication 17p11.2 syndrome (Potocki-Lupski syndrome, PTLS), and the Potocki-Shaffer syndrome (PSS). The first and second PTLS Family Educational Conferences were held at Texas Children's Hospital in 2009 and 2012, respectively. These conferences provided information and support for parents and professionals who care for children and adults with this newly characterized micorduplication syndrome.
My volunteer and mentoring activities include ?Parents Night Out? (PNO), and the MS150 as a bike-riding member of Team Texas Children's. PNO is a community service event sponsored by the Department of Molecular and Human Genetics and the Baylor Pediatric Student Association. The students and faculty at PNO provide childcare for over 50 children with special needs and their siblings. PNO is now in its 8th year at Texas Children's Hospital ! Team Texas Children's is a major supporter for the National Multiple Sclerosis Society's bike ride from Houston to Austin.
C.P. Schaaf, J. Zschoke, L. Potocki. Textbook:?Human Genetics: From Molecules to Medicine." Lippincott Williams & Wilkins, Philadelphia, 2012.
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