![]() ![]() Porter was elected to the Association of American Physicians in 2019. Porter serves on multiple medical/scientific advisory boards corresponding to the rare disorders studied by his section. He has also served as the NCATS Clinical Director since 2015. Porter has been the Director of the NICHD Molecular Genomics Core and NICHD Clinical Director since 2010. Porter served as the Program Head for the Program on Pediatric Developmental Endocrinology and Genetics from 2011 through 2015. Porter’s research at the NIH has been focused on understanding pathophysiological processes underlying human genetic disorders in order to develop and test therapeutic interventions.ĭr. Gitanjali Rao, 2020 TIME Top Young Innovator, 2019 Forbes 30 Under 30. Heiner Westphal’s laboratory and subsequently formed his own research laboratory in the Heritable Disorders Branch of NICHD. I am proud to nominate you for academic recognition as a Delegate representing. Porter came to the NIH in 1993 as a postdoctoral fellow in Dr. He is board certified in Pediatrics and Clinical Genetics. Louis and subsequently trained in Pediatrics and Genetics at St. degrees from Washington University in St. The combination of both basic and clinical science efforts in this research group truly allows for both an integrated bench-to-bedside and bedside-to-bench approach toward understanding the pathology of these disorders and developing therapeutic interventions.ĭr. This basic science work complements clinical work by this section which includes longitudinal natural history studies of SLOS, CLN3 disease and NPC1. ![]() ![]() Laboratory work is focused on development and characterization of neuronal, zebrafish and mouse models to gain insight into pathological processes underlying these genetic disorders utilizing molecular, biochemical and proteomic techniques. Forbes works with sculpture, installation, photography and digital. The goal of his sections research efforts is to combine both basic science and clinical expertise to develop and test novel therapeutic interventions for SLOS, CLN3 disease and NPC1. Want the World to Know showcases new works by Nottingham- based artist Michael Forbes. CLN3 disease, like NPC1, is a neurodegenerative, lysosomal disease however, the function of the CLN3 protein is not known. Niemann-Pick Disease, type C1 (NPC1) is a neurodegenerative, lysosomal disease due to impaired intracellular cholesterol transport. Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis that results in birth defects and cognitive impairment. ![]() Specifically, his research has focused on rare genetic disorders, Smith-Lemli-Opitz syndrome, CLN3 disease and Niemann-Pick Disease, type C1. Porter’s research group investigates molecular, biochemical, cellular, and developmental processes that underlie genetic syndromes. There are lots of ways to get help along the way also and everyone I have had the pleasure to work with it very friendly and eager to help It does that time and effort, but nothing for free or easy is really worth much.Cholesterol Metabolism and Genetic Syndromesĭr. It really is a ticket to freedom if you choose to listen, follow and work at it. And they have many successful members who have followed the program and shown that really anyone can do it if you really want it. They have created a path from their mistakes, hard knocks, and successes that lays out what you need to do and how you need to do it that will give you all the information you need to be a successful publishing creator that can earn you a lifetime of rewards. You definitely get the feeling that they truly want everyone who follows their program to be successful. To be honest I've only been a member of for a short time, but I can tell already that there is a sincere interest and large effort to teach and help each and every member be successful. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |