About
The Varner Pioneer in Science and Medicine Award is the Barth Syndrome Foundation’s top professional honor, given in recognition of exceptional contributions to the advancement of Barth syndrome scientific knowledge and/or medical care and treatments. This award is generously supported through the Wilkins family fundraising efforts and was established in 2008 in loving memory of Paula and Woody Varner, maternal grandparents to John Wilkins who lives with Barth syndrome. The Varner family was dedicated to Barth syndrome before it even had a name and supported the very first meeting held in 2000. Paula and Woody Varner embodied the same characteristics that we admire and value in research: persistence, commitment, honor, integrity, and humility. The award was established to recognize those who have fostered innovation and excellence in biomedical research and celebrates scientists for their significant contributions to the field of Barth syndrome research in order to build a brighter future for people with this genetic disease.
Eligibility for the award is open to professionals involved in science or medicine related to Barth syndrome, including but not limited to biology (e.g. structural, molecular, cellular, and developmental), biochemistry, chemistry (e.g. medicinal, organic), medicine (e.g. cardiology, hematology, neurology), support services (e.g. genetics, occupational therapy, physical therapy, speech language pathology) or industry (e.g. therapeutic development in the commercial setting). Nominees are recognized based on their contributions to the central aspects of BSF’s mission, including but not limited to advancing treatments, developing a cure, enhancing quality of life for individuals with Barth syndrome, and/or improving standards of care. Nominees will be solicited every two years (though more than one recipient may be selected, if appropriate) and the final candidate will be selected by the Barth Syndrome Foundation Board of Directors.
The Varner Award for Pioneer in Science and Medicine serves as a testament to the importance of scientific inquiry and innovation in addressing the challenges experienced by those with Barth syndrome. Through honoring exceptional researchers, the award seeks to inspire future generations to pursue careers related to Barth syndrome research.
Past Recipients
2008 – Peter Barth & Richard Kelley:
Peter Barth
Dr. Peter G. Barth, M.D., Ph.D., is a beacon of integrity, compassion, curiosity and innovation in the medical community. Dr. Barth's contributions date back to 1981 when his seminal paper first describing a yet-unknown disease and a particular family in the Netherlands whom he had seen be ravaged by it. Later this disease was given his name and is now called Barth syndrome. His relentless dedication has transformed countless lives. For over four decades, he has exemplified the ethos of a true educator, humanitarian, and visionary, dismantling barriers and challenging conventions with boundless courage and empathy. His profound impact extends far beyond the realm of medicine, as he continues to inspire and uplift all who have the privilege of knowing him. As a pediatric neurologist at the Emma Children’s Hospital and the Academic Medical Center in Amsterdam, Netherlands, Dr. Barth's legacy is etched in the annals of medical history. Despite officially retiring, his legacy as the vanguard of Barth syndrome endures, embodying resilience and hope for future generations.
Richard Kelley
Richard I. Kelley, M.D., Ph.D., is a long-standing and prominent figure in the Barth syndrome community. Before retiring, he served as the Director of the Division of Metabolism at the Kennedy Krieger Institute and was a Professor of Pediatrics at Johns Hopkins University Medical Center. Dr. Kelley's dedication extended beyond patient care, as he provided consultations to doctors worldwide and operated a specialized clinical lab. He also played a pivotal role in establishing the Clinic for Special Children in Pennsylvania, offering treatment for genetic disorders to the Amish population and others. A founding member of the Barth Syndrome Foundation, he was the inaugural Chairman of the Science and Medicine Advisory Board. Known for his unwavering, tireless commitment and compassion, Dr. Kelley has profoundly impacted countless lives, earning admiration from patients, their families and professionals alike. His leadership and encouragement have been instrumental in advancing research and knowledge about Barth syndrome.
2010 – Daniela Toniolo:
Daniela Toniolo, PhD has played a critical role in the evolution of Barth syndrome research, as it was research from her lab in 1996 that identified mutations in TAFAZZIN as causative of Barth syndrome. This seminal work was published in the esteemed journal, Nature Genetics, setting into motion nearly 30 years of research into uncovering the molecular mechanisms of disease progression. Her research has catalyzed not only diagnosis of the disease but also new therapeutic explorations into the areas of enzyme replacement therapy and viral vector-mediated gene therapies. Additionally, Dr. Toniolo now serves as an advisor to BSF’s Italian affiliate, Barth Italia Onlus.
2010 – Peter Vreken:
Peter Vreken, PhD, was awarded the Varner award posthumously in 2010 for his monumental discovery, in collaboration with Drs. Barth and Wanders, that it is the remodeling of cardiolipin that is defective in patients with Barth syndrome. His research at the University of Amsterdam in the Netherlands contributed significantly to subsequent important breakthroughs in the understanding of Barth syndrome. Peter’s outstanding accomplishments, achieved during his all-too-short life, opened the door for future discoveries related to Barth syndrome. The Barth syndrome community will always remember Dr. Vreken as a dedicated and caring researcher who was generous and determined in his pursuit of understanding this ultra-rare disorder. Those of us who attended the very first Barth syndrome gathering in June 2000 were fortunate enough to have met him in person.
2012 – Colin Steward:
Dr. Colin Steward has been a stalwart advocate for those affected by Barth syndrome for over two decades, exhibiting remarkable dedication to our cause. His work in hematology significantly elevated awareness of neutropenia, a critical clinical feature and the second leading cause of death in our rare disorder. Dr. Steward's pivotal work additionally shed light on both the variety of clinical presentations of this complex disease (and therefore possible pathways to diagnosis) as well as extensive fetal loss that is associated with our disease. His tireless efforts also expanded access to crucial multi-disciplinary medical services in the UK, as they were instrumental in establishing the National Health Service Barth Syndrome Clinic in Bristol and leading the second-ever clinical trial in our disease. Dr. Steward’s active involvement in the Barth Syndrome Foundation and unwavering commitment to collaboration have furthered scientific knowledge and improved patient outcomes.
2014 – Iris Gonzalez:
Iris Gonzalez, PhD, a retired Senior Research Scientist from the Molecular Diagnostics Laboratory at the AI DuPont Hospital for Children in Delaware, was awarded the Varner Pioneer in Science and Medicine Award in 2014 for her meticulous cataloging of the different TAFAZZIN mutations (i.e., variants) that were documented since TAFAZZIN was found to be the causative gene in Barth syndrome. Dr. Gonzalez described her frequent interactions with the Barth syndrome community over the years as bringing her “research to life”. From her diligent efforts, she created and curated the Human TAFAZZIN Variants Database, an on-going and critically valuable shared resource for the entire Barth syndrome community. The database continues to spur new research and now encompasses over 350 pathogenic (disease-causing) variants in addition to hundreds of variants that are classified as of unknown significance or benign (not harmful). She is wonderfully compassionate and can make even the most complicated genetic discussion seem accessible to patients and their families.
2016 – Michael Schlame:
For over three decades, Michael Schlame, MD has tirelessly and creatively investigated the molecular, biochemical, and developmental mechanisms underlying Barth syndrome. Dr. Schlame, a board-certified cardiac anesthesiologist and a world-renowned expert on cardiolipin, became interested in Barth syndrome with a fruitful collaboration in 2000 with Dr. Billi DiMauro (a BSF Scientific and Medical Advisory Board member). Michael received samples from multiple individuals with mitochondrial diseases to see if they had changes in cardiolipin, and he became extremely interested in Barth syndrome as a result since those samples did indeed show significant abnormalities. His research led him to investigate how TAFAZZIN mutations lead to cardiomyopathy and skeletal muscle abberrations. In addition to publishing >100 articles (many of which are about Barth syndrome specifically), Dr. Schlame has served the Barth syndrome community in many capacities over the past 20+ years, including on the Scientific and Medical Advisory Board for the Barth Syndrome Foundation (and, importantly, as Chairman of that body since 2011) and as a wonderful ambassador for our ultra-rare but fascinating disease. He and his world-class research have excited and encouraged many others to became interested as well. His commitment to Barth syndrome research is extraordinary, and he has uncovered many novel facets of the disease that provide promise for therapeutic development.
2024: To be announced Summer 2024
