Lorraine Potocki, M.D. – Baylor College of Medicine: Professor, Department of Molecular and Human Genetics
Lori Potocki is a Professor in the Department of Molecular & Human Genetics at the Baylor College of Medicine. Her primary interest involves the diagnosis, counseling, and management of individuals with developmental and genetic disorders. She directs the medical student curriculum in Genetics, and serves on curriculum committees at the School of Medicine and School of Allied Health Sciences. Her research involves the multi-disciplinary clinical study and characterization of Smith-Magenis Syndrome (SMS), Potocki-Lupski Syndrome (PTLS, duplication 17p11.2), and the Potocki-Shaffer Syndrome (PSS). (PAB term: 2010-2013)
My primary interest involves the diagnosis, counseling, and management of individuals with developmental and genetic disorders. I direct the medical student curriculum in Genetics, and serve on curriculum committees at the School of Medicine and School of Allied Health Sciences. My 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).
James R. Lupski, M.D. – Baylor College of Medicine: Professor and Vice Chair, Department of Molecular and Human Genetics
Dr. James Lupski is vice chair professor of molecular and human genetics and pediatrics at Baylor College of Medicine in Houston. Lupski, also director of the Medical Scientist Training Program and American Editor of Neurogenetics, received his B.A. in 1979 and Ph.D. in 1984, both from New York University. He received his M.D. from New York School of Medicine in 1985. He went on to complete his postdoctoral work at New York University in 1986 and completed a residency in pediatrics and fellowship in medical genetics at Baylor College of Medicine.
Lupski’s research interests include determining the molecular mechanisms for disease using human genetic approaches to investigate clinical phenotypes. A major focus is the molecular genetics of Charcot-Marie-Tooth (CMT) disease and related inherited demyelinating peripheral neuropathies. Additional efforts are aimed at determining the molecular mechanism for contiguous gene syndromes. Other human genetic disease gene mapping research involves collaborative efforts with Dr. Richard A. Lewis to map rare, recessively inherited eye disorders. Lupski’s work has appeared in such publications as Science, Annals of Neurology and Nature Genetics.
Pilar Magoulas, M.S. – Baylor College of Medicine: Genetic Counselor, Department of Molecular and Human Genetics
Pilar L. Magoulas is a Genetic Counselor at Texas Children’s Hospital and Baylor College of Medicine. She has a BS degree in Psychology from the University of Florida and obtained her MS in Genetic Counseling from Northwestern University in Chicago, Illinois in 2003. After graduation, she worked as a pediatric genetic counselor at the University of Utah in Salt Lake City, where she was actively involved in the medical genetics and metabolic genetics clinics. She coordinated treatment for many of the patients seen with lysosomal storage disorders and became actively involved with different parent support groups. She was also involved in the planning and implementation of the Graduate Program in Genetic Counseling at the University of Utah.
Pilar was also involved in the planning and implementation of the Graduate Program in Genetic Counseling at the University of Utah. She has been with Baylor College of Medicine since 2006. Her primary responsibilities include coordination of the inpatient consultation service and the adult genetics clinic. Her interests include the mucopolysaccharidoses and enzyme replacement therapy, the cardio- facio-cutaneous (CFC) syndrome, adults with congenital heart disease, and establishing a
medical home for children and individuals with genetic disorders.
Diane Treadwell-Deering, M.D. – Baylor College of Medicine: Associate Professor, Menninger Department of Psychiatry and Behavioral Sciences, Department of Pediatrics and Center for Medical Ethics and Health Policy
I share the values of the organization with which I am affiliated: I am committed to providing excellent clinical care, training future medical professionals and adding to medical knowledge through research and collaboration. Specific areas of expertise and interest include autism, Fragile X syndrome, Potocki-Lupski syndrome and biomedical ethics. Care of children with developmental disorders must be family–centered, that is, the family must be considered integral and equal member of the health care team.
My goal is to partner with each family I serve to develop and implement the best plan of care for their unique child. Communication, mutual respect and trust are the cornerstones of these working relationships. Participating in the training of future physicians and other health professionals is challenging and inspiring. The provision of health care in the context of rapid technological and medical advances and social, cultural and economic changes is humbling. Preparing the outstanding young men and women at TCH and BCM for this mission is a vital priority for me. Key to providing excellent care and training clinicians is the advancement of medical knowledge. Through collaboration in multicenter projects, such as the Fragile X clinical and Research Consortium, the Autism Treatment Network and the Simons Foundation, I have been able to play a part in learning more about the developmental disorders that affect my patients and their families. In order to fulfill fiduciary responsibility, a core value of physicians, ethical considerations must be the foundation of all medical activity—clinical care, teaching PTLS Outreach Foundation Website and research. Patient confidentiality, protection of research subjects, the judicious use the new technology, to name a few, requires ongoing diligent consideration. Participation in the Center for Medical Ethics and Health Policy at Baylor college of Medicine is one of the most meaningful activities for me as a professional.
Katherina Walz, Ph.D. – University of Miami Miller School of Medicine: Assistant Professor, Dr. John T. Macdonald Foundation, Department of Human Genetics and Department of Medicine and Acting Director, Center for Modeling of Human Diseases, John P. Hussman Institute for Human Genomics.
Katherina Walz, Ph.D., Acting Director for the Center for Models of Human Disease at the John P. Hussman Institute for Human Genomics, is a biologist interested in developing mouse models for human genetic conditions. Her research is focused in the validation of the genetic cause, the definition of the phenotypic outcomes and the elucidation of the molecular and physiological pathways involved in a certain disease. These mouse models someday might lead to reversibility of a genetic condition or disease or a pharmacological treatment.
Dr. Walz’s work is focused in syndromes related to gene Copy Number Variation, such as Smith-Magenis (SMS) and Potocki-Lupski (PTLS) Syndromes, and kidney diseases as Focal and Segmental Glomerulosclerosis (FSGS). Walz is also an Assistant Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics.