Presenter:
Janine D. Cody, PhD,
Professor, Department of Pediatrics UT Health San Antonio
Donna Lehman, PhD, Associate Professor Department of Medicine, UT health San Antonio
Noboru Hiroi, PhD
Professor, Department of Pharmacology, Department of Cellular and Integrative Physiology, and Department of Cell Systems and Anatomy at UT Health San Antonio
Overview:
“Making the Chromosome 18 Conditions Treatable”
Objectives:
To increase awareness and education for pediatric providers
Jannine De Mars Cody, PhD is currently a Professor in the Department of Pediatrics here at University of Texas Health San Antonio. In 1985 her daughter Elizabeth was born with a rare chromosome abnormality called 18q-. This was a condition that was easily diagnosed yet there was virtually no information on medical management or on maximizing their potential. In 1990, Jannine, along with Sid Atkinson, founded the Chromosome 18 Registry and Research Society as a way to bring affected families together and to learn from each other. In 1997, Jannine earned a Ph.D. in the lab of Robin Leach in Cellular and Structural Biology here at UTHSCSA. While pursuing her Ph.D., she began the multidisciplinary Chromosome 18 Clinical Research Center, the goal of which is to make the chromosome 18 conditions the first completely treatable chromosome abnormalities. The Center’s research ranges from the molecular biology of the conditions, to the clinical consequences, to the psychosocial ramifications for the affected individual, the parents and the siblings. This longitudinal study including over 700 participants has generated over 60 peer-reviewed publications. In an effort to encourage federal support for research into chromosome abnormalities, Jannine has testified twice before the US Congress and serves on a variety of national committees and organizations related to genetics.
Dr. Donna Lehman, PhD academic area of expertise is in human genomics. She leads a long-standing translational research program utilizing state-of-the-art stem cell and multi-omics methods in large cohorts of subjects and patients to identify and biologically characterize genetic risk factors for both common and rare disorders. She has a 20-year record of research funding as Principal Investigator including 8 large, federally funded projects as well as others from private organizations and pharma. Work from her grants has been published in many high impact journals including Nature, Nature Genetics, Science, and PNAS. She regularly serves on NIH and DOD review panels for research, fellowship awards, and clinical trials, and is a reviewer for numerous journals including JAMA, PLOS One, Diabetes Care, and the Frontiers series. Being in a clinical department, her teaching focus is on public health genomics, preparing students in all healthcare professions and levels to integrate genomic information into patient care as well as mentoring our next generation researchers at many career stages.
Dr. Noboru Hiroi, PhD is a Professor in the Department of Pharmacology, Department of Cellular and Integrative Physiology, and Department of Cell Systems and Anatomy at UT Health San Antonio. Dr. Hiroi received his PhD at McGill University in 1991 and did postdoctoral training at MIT and Yale before starting his independent lab as an Assistant Professor at Albert Einstein College of Medicine in 1998. He rose through the ranks to be appointed as a full Professor in 2011. He moved his lab to UT Health San Antonio in 2019. His work is focused on molecular and cellular mechanisms underlying neurodevelopmental disorders associated with 22q11.2 copy number variation. His current research is supported by two R01’s, one R21 and two internal pilot grants. He received an NARSAD Independent Investigator Award in 2006 and Lilly Neuroscience Basic Research Award in 2016.
Financial Disclosures:
Jannine Cody, PhD has no financial relationships with ineligible companies to disclose.
Donna Lehman, PhD has no financial relationships with ineligible companies to disclose.
Noboru Hiroi, PhD has no financial relationships with ineligible companies to disclose.
The Pediatric Grand Rounds Planning Committee (Deepak Kamat, MD, PhD, Daniel Ranch, MD and Elizabeth Hanson, MD) has no financial relationships with ineligible companies to disclose. Planning Committee member Steven Seidner, MD has disclosed he receives funding from Draeger Medical for the Clinical Study to Evaluate the Safety and Effectiveness of the Infinity Acute Care System Workstation Neonatal Care Babylog VN500 Device in High-Frequency Oscillatory Ventilation (HFOV) Mode in Extremely Low Birth Weight (ELBW) Neonates for which he is a co-principal investigator.
Credits:
AMA PRA Category 1 Credits™ (1.00 hour)
Non-Physician Participation Credit (1.00 hour)
MOC-2 credit (1.00 hour)
Target Audience:
Pediatric Doctors and Providers
Faculty, residents, health care providers; medical students and trainees.
Accreditation:
The UT Health Science Center San Antonio is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
Credit Designation:
The UT Health Science Center San Antonio designates this live activity up to a maximum of 1.00 AMA PRA Category 1 Credits™.
Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Nurses and other healthcare professionals will receive a Certificate of Attendance. For information on applicability and acceptance, please consult your professional licensing board.