From: Department of State Health Services <txhhs@public.govdelivery.com>
Date: Thu, Jul 3, 2014 at 9:20 AM
Subject: REMINDER Newborn Screening Grand Rounds: Pompe Disease - "Bench to Bedside Journey and Newborn Screening Initiatives"
To: iammejtm@gmail.com
Pompe Disease: "Bench to Bedside Journey and Newborn Screening Initiatives"
This presentation will give you a better understanding of Pompe disease, treatment advances and discuss the role of Newborn Screening (NBS) in Pompe disease.
IN PERSON: K-100 auditorium at the Main Campus of the Texas Department of State Health Services, 1100 West 49th Street, Austin, Texas 78756.
WEBINAR: All persons attending the webinar MUST register. If multiple persons are viewing at one site, everyone MUST still individually register AND complete the sign-in sheet the day of event, and send to tasha.reese@dshs.state.tx.us of everyone viewing at that one site.
Continuing Education for multiple disciplines will be provided.
Presented by: Priya Kishnani, MD
Dr. Kishnani, completed her Pediatric Residency and Clinical and Biochemical Genetics Fellowship at Duke, then joined the Duke faculty in July 1995. She is certified by the American Board of Medical Genetics Clinical Biochemical Genetics and American Board of Medical Genetics Clinical Genetics.
The translation of laboratory science into the clinical arena, especially in the area of such therapeutic interventions as enzyme replacement therapy and small molecules, is her primary focus. The care, treatment and natural history of individuals with Lysosomal Storage Disorders, Glycogen Storage Diseases, Down syndrome and other inborn errors of metabolism are her areas of interest. She has a long-standing research and clinical interest in Pompe Disease and, along with Dr. Y. T. Chen, was instrumental in getting FDA approval for Myozyme, the first treatment for this disorder in 2006. In other areas of translational medicine, Dr. Kishnani has been very involved in starting the first prescription drug trials with cholinesterase inhibitors in individuals with Down syndrome to enhance cognition. Designing clinical trials for rare diseases is an area of expertise of hers.
Questions? Accommodations requests, including communication access, should be made by email nbs.supportgroup@dshs.state.tx.us or phone 512.776.2682 – (use relay option of your choice to call if needed) 5 business days prior to the event. Requests received afterwards cannot be guaranteed. | Visit us on the web at http://www.dshs.state.tx.us/
This service is provided to you at no charge by the Texas Department of State Health Services.
Visit us on the web at http://www.dshs.state.tx.us/.
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Jeremy Tobias Matthews
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