Lorraine Potocki, MD, FACMG

Personal Statement

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 in 1996, and have been caring for Texas Children’s patients and families ever since. As a Clinical Geneticist, I provide diagnosis, counseling, and management for individuals with developmental and genetic conditions. I work very closely with Genetic and Pediatric residents and medical students and am one of the primary clinical faculty who provide insight and direction in their professional training. I direct the Genetics and Genomics Pathway for the Baylor College of Medicine Texas Medical Center and Temple, Texas campuses, which enriches the medical students’ experience in the field of medical genetics throughout their four-year medical school curriculum. I serve on the Baylor College of Medicine Committee on Student Promotions and Academic Achievement and the Selection Committee for the Barbara and Corbin J. Robertson, Jr. Presidential Award for Excellence in Education.

Clinical Interests

Families come to Texas Children’s Hospital for exceptional clinical care and expertise across all disciplines of pediatric medicine. As a Clinical Geneticist, I am consulted to determine the underlying causes of a child’s diagnosis, no matter what systems are involved in the child’s illness. I enjoy meeting with my patients’ parents to explain the diagnoses and provide the information they need for their child’s care. While I evaluate patients with any one of literally hundreds of diagnoses, I am most known for my research and clinical care in the Potocki-Lupski (PTLS), Potocki-Shaffer (PSS), and Smith-Magenis (SMS) syndromes. Over the years, I have helped determine the clinical characteristics of these conditions and have provided insight and expertise regarding medical complications and neurodevelopmental concerns.

Education

,

,

,

,

,

Organizations

,

,

,

Honors and awards

2022

Baylor College of Medicine, Master Clinician Faculty Award for Excellence in Patient Care

2017-2022

Super Doctors, Genetic Medicine

2014

Baylor College of Medicine, Barbara and Corbin J. Robertson, Jr. Presidential Award for Excellence in Education  

* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Kaplan K, McCool C, Lupski JR, Glaze D, Potocki L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet Part A, 179(10):1982-1986, 2019. PMID:31342617

Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. GARS-related disease in infantile spinal muscular atrophy—Implications for diagnosis and treatment. Am J Med Genet Part A, 182(5):1167-1176. 2020. PMID: 32181591.

Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski, JR, McCann-Crosby B, Potocki L. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome. Am J Med Genet Part A. 182(9):2077-2084, 2020. PMID: 32656927.

Kaplan K, Elsea SH, Potocki L. Management of sleep disturbances associated with Smith-Magenis syndrome. CNS Drugs. 34(7):723-730, 2020. PMID: 32495322.

Glinton KE, Potocki L, Dhar SU. An innovative medical school curriculum to enhance exposure to genetics and genomics: updates and outcomes. Genet Med 24(3):722-728, 2022. PMID: 34906481.

Merriweather A, Murdock D, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Undiagnosed Disease Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 188(7):2198-2203, 2022. PMID: 35396900.

Penon-Portmann M, Eldomery M, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, van Ziffle J, Doherty D, Lupski JR, Shieh JT. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 188(8):2360-2366. 2022. PMID: 35751429.