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George A. Porter, Jr., M.D., Ph.D.

Contact Information

Phone Numbers

Appointment: (585) 275-6108

Administrative: (585) 275-6096

Fax: (585) 442-0104

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Faculty Appointments

Patient Care Settings

Hospital Medicine, Pediatrics

Biography

General Pediatric Cardiology

Pediatric Cardiology Research

Research

Dr. Porter's laboratory studies mechanisms that control cardiac development, concentrating on the roles played by the intracellular organelles, mitochondria. Using in vivo and in vitro mouse models of cardiac development, the lab has shown that mitochondrial structure and function changes dramatically in cardiac myocytes as the embryonic heart forms. In particular, we have found that closure of the mitochondrial permeability transition pore (PTP) between the early and mid-embryonic period leads to a maturation of the structure of individual mitochondria and of the mitochondrial network throughout the cell. This also leads to an activation of oxidative phosphorylation, or ATP production, by mitochondria as the heart develops. These changes also cause a drop in cellular oxidative stress due to altered mitochondrial production of reactive oxygen species, and this signals to the myocytes to undergo further differentiation. More recent research finds that the same phenomena occur in the neonatal heart, and that closure of the PTP in the neonate increases cardiac function in vivo.
These findings have led to additional studies. 1. Determining that the PTP is derived from ATP synthase the electron transport chain complex that makes ATP. 2. Determining the mechanisms that control the activity of the PTP. 3. Investigating the mechanisms by which mitochondria control oxidative stress in the embryonic heart. 5. Determining how mitochondria regulate differentiation of cardiac myocytes in the neonatal period and how oxygen levels regulate these changes and cause maturation of the infant heart.
Finally, Dr. Porter is the site principal investigator at the University of Rochester for the Pediatric Cardiac Genomics Consortium. This international, multicenter arm of the NIH Bench to Bassinet program (http://www.benchtobassinet.net/) has enrolled over 10,000 patients with congenital heart defects to perform genotype-phenotype correlation using advanced genetic testing. This data derived from this study is being used to discover new genes that cause human congenital heart defects and to test the pathogenesis of these genes in animal models through collaboration with the Cardiovascular Development Consortium of the Bench to Bassinet program. The most recent version of this study will determine the relationship between genetic mutations, heart defects, and neurodevelopmental outcomes.
These studies have been funded by the Charles H. Hood Foundation, the Children's Cardiomyopathy Foundation, Founder's Affiliate of American Heart Association, the NIH, Pfizer, the Strong Children's Research Center, and the University of Rochester Clinical and Translational Science Institute (CTSI), the Aab Cardiovascular Research Institute (CVRI), and the United Mitochondrial Disease Foundation.

Credentials

Education

1993
PHD | University of Maryland School of Medicine

1994
MD | University of Maryland School of Medicine

Post-doctoral Training & Residency

07/01/1997 - 06/20/2000
Fellowship in Pediatric Cardiology at Yale New Haven Hospital

07/01/1995 - 06/30/1997
Residency in Pediatrics at Yale University School of Medicine

07/01/1994 - 06/30/1995
Internship in Pediatrics at Yale New Haven Hospital

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Awards

2018
Mentor of the Year Award
Sponsor: Eastern Society for Pediatric Research

2015
Ruth A. Lawrence Academic Faculty Service Award in Research, UR Medicine, Department of Pediatrics

2008
Second place, Basic Cardiovascular Science Poster Competition (Research Symposium)
Location: Upstate, New York

2004
The Mae Gailani Junior Faculty Award for Uncompromising Dedication to Research and Patient Care
Location: Yale Department of Pediatrics

1999
AHA Travel Award to the 1999 Weinstein Cardiovascular Development Conference

1994
The American Federation for Clinical Research Medical Student Award
Location: University of Maryland School of Medicine

1994
Dr. J. Edmund Bradley Award for Excellence in Pediatrics
Location: University of Maryland School of Medicine

1992
Extended Neuroscience Research Award, The American Academy of Neurology

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Patents

Patent Title: Compositions and Methods for Enhancing Cardiac Function in the Neonate
Patent #: 10,179,161
Issue Date: Jan 15, 2019
Country: United States
Invented By: George A Porter, Jr.

Publications

Journal Articles

5/20/2019
Ait-Aissa K, Blaszak SC, Beutner G, Tsaih SW, Morgan G, Santos JH, Flister MJ, Joyce DL, Camara AKS, Gutterman DD, Donato AJ, Porter GA, Beyer AM. "Mitochondrial Oxidative Phosphorylation defect in the Heart of Subjects with Coronary Artery Disease." Scientific reports.. 2019 May 20; 9(1):7623. Epub 2019 May 20.

3/23/2019
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD. "ORE Identifies Extreme Expression Effects Enriched for Rare Variants." Bioinformatics.. 2019 Mar 23; Epub 2019 Mar 23.

2/15/2019
Seidlmayer LK, Gomez-Garcia MR, Shiba T, Porter GA, Pavlov EV, Bers DM, Dedkova EN. "Dual role of inorganic polyphosphate in cardiac myocytes: The importance of polyP chain length for energy metabolism and mPTP activation." Archives of biochemistry and biophysics.. 2019 Feb 15; 662:177-189. Epub 2018 Dec 17.

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