The Barth Syndrome Foundation’s (BSF) international Scientific and Medical Advisory Board is a dedicated team of researchers and physicians who generously donate their time and expertise to our mission. Without them, we would not be able to review grant applications with multi-dimensional expertise or write medically-approved educational materials about Barth syndrome. These eminent scientists and physicians are central to our goals and our operation. BSF is incredibly pleased to introduce our members, each of whom has agreed to serve for a four-year term. This international group forms the review panel for research grants and provides scientific and medical advice and guidance to BSF's Board of Directors.
William T. Pu, MD
Professor of Pediatrics, Harvard Medical School; Department of Cardiology, Boston Children´s Hospital; Principal Faculty, Harvard Stem Cell Institute, Boston, MA, USA
Dr. Pu is a pediatric cardiologist who focuses on basic research to understand the regulation of heart development and function. Dr. Pu also uses induced pluripotent stem cell (iPS) technology to understand how gene mutations can prevent the heart from growing normally, causing congenital heart defects. His lab is seeking to reprogram skin cells from patients with specific heart malformations to create iPS cells which then can be used to create heart muscle cells. This way, researchers can observe how heart diseases develop, from beginning to end and better understand how certain conditions started as well as how they may be able to be treated. At the 2012 BSF biennial conference, Dr. Pu showed his success in developing iPS cells from two BTHS individuals — unique achievements that have been submitted for publication. Importantly, he is in the process of donating these very valuable cell lines to the Barth Registry and Repository so that any researcher can access them.
Dr. Pu is Board Certified in Pediatrics and Pediatric Cardiology. He has been awarded two research grants from BSF for projects involving iPS cells and metabolite abnormalities in cardiomyocytes. In addition, he is well-funded from the NIH, receiving two concurrent R01 awards, part of an RC1 award, and an R21 award. Dr. Pu´s clinical background and his performance at the highest levels of biological research make him a wonderful addition to the SMAB.
