The Barth Syndrome Foundation would like to share some important news regarding our Scientific and Medical Advisory Board (SMAB).

First, we are saying a heartfelt farewell and thank you to two longstanding members of our SMAB.
After years of dedicated service, Dr. Ronald Wanders will be retiring from the SMAB this year. Ronald has been a steadfast champion for the Barth syndrome community since the earliest days of the Foundation. A founding SMAB member in 2001, Ronald worked closely with Dr. Peter Barth to understand the underlying mechanisms of the disease and has helped shape BSF's scientific strategy ever since — contributing extensively to grant review, Sci-Med conference programming, and mentoring a new generation of researchers now making their own mark in the field.

Before his retirement, he served as Professor and Head of the Laboratory Genetic Metabolic Diseases at the Amsterdam University Medical Center, a world-renowned center for the diagnosis of inborn errors of metabolism. Ronald was also the 2024 recipient of BSF's Varner Pioneer in Science and Medicine Award — the Foundation's highest professional honor — reflecting the extraordinary impact he has had on advancing Barth syndrome scientific knowledge. Yet, what defines Ronald as much as his scientific leadership and expertise is his deep compassion and thoughtful guidance to Barth families over the years. Ronald's contributions to the Barth syndrome community have been immeasurable, and we are deeply grateful for his commitment over the years.

Additionally, Dr. Michio Hirano will be transitioning from his current role as a SMAB member to an ad hoc advisory role. We are grateful that Michio will continue to lend his mitochondrial expertise to our community in this new capacity, and we look forward to calling on his guidance as needed. 

We are also pleased to share that three members who were up for renewal this year have been approved by the Board for another four-year term: Dr. Borko Amulic, Dr. Brian Feingold, and Dr. Miriam Greenberg. We are sincerely grateful for their continued generosity, expertise, and dedication in support of the Barth syndrome community.

Last but certainly not least, the Board has approved the appointment of three new SMAB members, and we are thrilled to welcome them! Please join us in welcoming Dr. Christy Pacak, Dr. Robin Duncan, and Dr. Katie Chatfield to the SMAB.

• Christina Pacak, PhD | Associate Professor, University of Minnesota
  Dr. Christina Pacak received her PhD from the University of Florida, where she was first exposed to Barth syndrome research in the lab of Dr. Barry Byrne, and completed a postdoctoral fellowship at Harvard Medical School. She started her independent laboratory, first at the University of Florida before moving her lab to the University of Minnesota in 2021 where they study mitochondrial and muscle dysfunction in rare diseases including Barth syndrome. In particular, her lab is studying methods to enhance cellular uptake of gene therapies like adeno-associated viral (AAV) vector therapy in patient-derived cellular models. Dr. Pacak has been a dedicated Barth syndrome researcher for over a decade, having been an author on >10 peer-reviewed publications. Dr. Pacak has also been an integral member of the research community, having served two terms on the Scientific and Medical conference organizing committee. Dr. Pacak will bring to the Scientific and Medical Advisory Board a deep expertise in mitochondrial disease, patient-derived cell models, and AAV-mediated gene therapy, along with a long-standing commitment to advancing treatments for the Barth syndrome community.

• Robin Duncan, PhD | Associate Professor, University of Waterloo, Canada
  Dr. Robin Duncan is an Associate Professor in the Departments of Kinesiology & Health Sciences and Biology at the University of Waterloo. She received a PhD in Nutritional Sciences from the University of Toronto and completed a postdoctoral fellowship at University of California, Berkley. Her laboratory studies the relationship between nutrition and molecular determinants of health and disease with deep expertise in nutrigenomics, biochemistry, and molecular biology. Specifically, her research program focuses on the discovery and characterization of novel enzymes in lipid metabolism. Dr. Duncan has published 5 peer-reviewed papers on Barth syndrome including a novel exploration of the utility of cannabidiol as a potential treatment. Dr. Duncan has been an integral member of the Barth syndrome community, having recently served on the 2024 Scientific and Medical conference organizing committee and serving as an external reviewer for the Barth Syndrome Foundation (BSF) grant program for the past several years. Additionally, Dr. Duncan has mentored several trainees on Barth syndrome research, with one of these students going onto conduct Barth syndrome research during his postdoctoral work. Dr. Duncan will bring her expertise in lipid and enzyme biology, nutrition, and the impact of nutraceutical supplements on lipid function to the Scientific and Medical Advisory Board (SMAB).

• Kathryn Chatfield, MD PhD | Associate Professor of Pediatrics and Director, Cardiac Genetics Clinic, University of Colorado Anschutz
  Dr. Kathryn Chatfield is an Associate Professor of Pediatrics in the Division of Cardiology at the University of Colorado School of Medicine and the Director of the Cardiac Genetics Clinic at Children's Hospital Colorado. She holds both an MD and PhD from Dartmouth and completed her Pediatric Cardiology fellowship at the University of Colorado Anschutz Medical Campus. Her clinical expertise spans inherited and metabolic forms of cardiomyopathy, and her research is focused on the role of mitochondrial energy metabolism in pediatric heart disease.
  
  Dr. Chatfield has been a dedicated contributor to the Barth syndrome field for over a decade, with multiple peer-reviewed publications on the disease including work distinguishing the unique metabolic features of Barth syndrome from other forms of pediatric cardiomyopathy. She played an integral role in the TAZPOWER clinical trial — the landmark study of elamipretide in Barth syndrome that ultimately supported the first-ever FDA approval of a treatment for this disease. Her dual training as both a cardiologist and a clinical geneticist positions her uniquely to understand and address the complex, multi-system challenges faced by individuals living with Barth syndrome.
  
  Dr. Chatfield will bring to the Scientific and Medical Advisory Board deep expertise in inherited cardiomyopathy, mitochondrial disease, and rare disease clinical trial development, along with the invaluable perspective of a clinician who cares for Barth syndrome patients in her practice.

The Barth Syndrome Foundation is grateful for the scientific leadership of every member of this board and for the difference it makes for individuals and families living with Barth syndrome.