Webinar Bone, Muscle & Beyond: Skeletal dysplasias in inborn errors of metabolism
Date & Time: 17 November 2022, 4 pm CET
Featuring Dr Brendan Lee and moderated by Dr Jessica Pepe
Organised by the ECTS and ICCBH
- 5 min welcome & introductions
- 35 min presentation
- 20 min Q&A
- Understand the impact of metabolic requirements of skeletal homeostasis.
- Learn how genetic disorders of the skeleton identify key metabolic pathways required for skeletal homeostasis.
- Understand how underling metabolic dysregulation may impact treatment of skeletal dysplasias.
Costs: Live webinar is free for ECTS members and non-members, but a registration is required. Recordings are accessible to ECTS members only.
Dr Brendan Lee
Dr. Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM). Dr. Lee co-directs the joint MD Anderson Cancer Center, University of Texas Health, and BCM Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the BCM Center for Skeletal Medicine and Biology. He is Founder and Director of the Skeletal Dysplasia Clinic at Texas Children’s Hospital, and of the Medical Student Research Track at Baylor. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. Dr. Lee identified the first genetic causes of human skeletal dysplasias that affect the growth and strength of the skeleton. He has discovered new causes of brittle bone disease. In so doing, he identified key regulators of bone mass and quality which have led to new approaches for diagnosing and treating these disorders. In the area of metabolic disease, he developed new treatments for maple syrup urine disease and urea cycle disorders that are identified at birth by comprehensive newborn screening. He has published over 300 peer reviewed papers and over 80 invited reviews, chapters, and books. His work has garnered over $68M in continuous NIH funding over his 25 years as an independent investigator. He currently leads the NIH BCM Undiagnosed Diseases Network Clinical Site and NIH Brittle Bone Disorders Consortium. He holds multiple patents in drug discovery and gene therapy and several licensed technologies are in clinical trial.
Dr. Lee has received local, national, and international recognition including election to the National Academy of Medicine, Fellow of the American Association for the Advancement of Science (AAAS), the Texas Academy of Medicine, Engineering, Science, and Technology (TAMEST), the Association of American Physicians (AAP), the American Society for Clinical Investigation (ASCI), and the Society of Pediatric Research (SPR). He has also been awarded the American Society of Human Genetic Curt Stern Award for Outstanding Scientific Achievement, the TAMEST Peter and Edith O’Donnell Award in Medicine, the Society for Pediatrics Research (SPR) E. Meade Johnson Award for Pediatrics Research, the Michael E. DeBakey Excellence in Research Award, the American Philosophical Society’s (APS) Judson Darland Prize for Patient-Oriented Clinical Investigation, Best Doctors in America, and Foreign Member, National Academy of Medical and Surgical Sciences in Napoli, Italy. He has served on multiple nonprofit boards and advisory panels including the Advisory Committee to the Director (ACD) of the NIH.
He has been the primary research mentor of 48 MD, MD/PhD, and PhD postdoctoral fellows, 25 PhD pre-doctoral, 9 MD pre-doctoral, and 17 undergraduate trainees. He leads a medical genetics NIH training grant and program currently in its 41st-45th years of funding. He also led the establishment of the masters in genetic counseling program at BCM.
Dr. Lee was previously an Investigator of the Howard Hughes Medical Institute prior to becoming Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine in 2014. The Department is the leading genetics program in the world integrating basic/translational/clinical research, prenatal/pediatric/adult clinical service, and molecular pathology activities. It is composed of over 150 primary faculty members encompassing research, clinical, laboratory diagnostic, and genetic counseling missions. It ranks #1 in total NIH funding ($110M in FY20) and number of NIH grants for ten straight years among genetics departments at US medical schools. He led the negotiation and establishment of Baylor Genetics laboratories a joint venture between Baylor College of Medicine and Miraca Holdings valued at $330 million. He has also led philanthropic efforts raising over $16 million in support of the Center for Skeletal Medicine activities. His global activities include the establishment of the joint Baylor College of Medicine-Chinese University of Hong Kong Center for Medical Genetics in Hong Kong.