Louis Kunkel - PhD
Director, Program in Genomics, Boston Children's Hospital
Professor, Pediatrics and Genetics, Harvard Medical School
Dr. Kunkel is an internationally recognized geneticist and has years of experience and scientific success in the understanding of the basis for muscular dystrophies, autism spectrum disorders, and interstitial cystitis. He received a B.A. from Gettysburg College and his Ph.D. from Johns Hopkins University. Over the past three decades Dr. Kunkel has devoted his career to understanding the molecular basis, and developing therapy, for neuromuscular disorders. Dr. Kunkel is universally recognized for the identification of the gene and encoded protein, dystrophin, which is mutated in boys with Duchenne/Becker muscular dystrophy, in 1986-1987. This was accomplished using an approach, which was novel at the time, based on the chromosomal map position of the gene. Since then, members of his laboratory have been responsible for the identification and characterization of more than 15 dystrophin-related or dystrophin-associated genes and their protein products, and have discovered that mutations in three of these genes cause limb-girdle muscular dystrophy. The identification of dystrophin has lead to improved diagnosis of the muscular dystrophies and rational approaches to therapy. Dr. Kunkel currently holds appointments as Director of the Program in Genomics at Boston Children's Hospital; Professor of Pediatrics and Genetics, Harvard Medical School, Boston; and Investigator, Howard Hughes Medical Institute. Dr. Kunkel has authored more than 200 journal articles and 20 book chapters. He has received 22 awards and honors for scientific leadership and achievement including memberships in the National Academy of Sciences and the American Academy of Arts and Sciences, The Gairdner Foundation International Award 1989, Silvio O. Conte decade of Brain Award 1991, the Muscular Dystrophy Association's S. Mouchly Small Scientific Achievement Award 1999, and the William Allan Award for distinguished service in human genetics in 2004. He has been a member of the MDA Scientific Advisory Committee for 15 years, and now is the chair of the committee.
Predoctoral Research Fellow
Steve is a graduate student in the Biological and Biomedical Sciences program at Harvard Medical School. He is studying the genetics of several human traits, including interstitial cystitis/painful bladder syndrome, an undefined combined immunodeficiency, limb girdle muscular dystrophy, and exceptional longevity.
Jordan Dimitrakov, MD, PhD
Dr. Dimitrikov graduated in 1996 from the Medical University in Plovdiv, Bulgaria. He then completed a three-year PhD program at the departments of urology, nephrology and microbiology there and defended his PhD thesis in December 1999. In 2000, he completed a year of research training in the application of the 16S rDNA PCR technique in prostatitis and urinary tract infections with Dr. Wolfgang Weidner in Giessen, Germany. From 2001 through January 2003, he worked as assistant professor at the Department of Nephrology/Urology of the Medical University and St. George's Hospital in Plovdiv. Dr. Dimitrakov joined the Freeman Lab in December 2003. His research interests are in the area of interstitial cystitis and chronic prostatitis/chronic pelvic pain syndrome (CPPS). His project involves evaluation of the sensitivity and specificity of several novel inflammatory and pain-related markers in IC/CPPS. It will also be looking for candidate genes for interstitial cystitis in a cohort of identical twins with IC and a cohort of family members with at least two members diagnosed with IC
1994, 1995 Best Medical Student Award, National Academic Foundation of Bulgaria
1996 Magna cum laude, Medical University in Plovdiv, Bulgaria
2003 Awarded an R01 grant by the NIH/NIDDK (the youngest MD/Ph.D. principal investigator to be a recipient)
Elicia Estrella, MS, CGC, LGC
Genetic Counselor and Study Coordinator
Elicia joined the Kunkel lab in April of 2006 as the genetic counselor and study coordinator. She has an M.S. degree in Neuroscience from Boston College and an M.S. degree in genetic counseling from Brandeis University. Elicia is the link between the clinical and research interacting with families, referring physicians and laboratory personnel. She uses her counseling skills to recruit appropriate study participants, analyze clinical data, and act as a resource for information on genetics and muscular dystrophy. In addition, she monitors legal and ethical issues concerning genetic research and applies this to the Kunkel laboratory research projects. She currently works on both muscular dystrophy and interstitial cystitis research projects.
Ingrid Holm - MD - PhD
Director of the Phenotyping Core
Assistant Professor of Pediatrics
Ingrid Holm's research focuses on the genetics of endocrine disorders. Her studies have sought to elucidate the genetic and environmental components of disorders of bone mineralization and glycogen storage. She has been particularly interested in the role of mutations in the PHEX gene in hypophosphatemic rickets.
Ingrid Holm received her MD degree from the University of California, Los Angeles. She completed an internship, residency, and fellowship in pediatric endocrinology at Boston Children's Hospital. She received an MPH degree from Harvard School of Public Health. Dr. Holm is President of Advances in Mineral Metabolism, an organization of professionals in the field of mineral metabolism.
Stephanie Brewster - MS - CGC
Supervisor, Genetic Research & Development
Stephanie has held the position of Supervisor, Genetic Research & Development within the Program in Genomics since 2004. In this capacity she implements and oversees various studies within the program which involves protocol and consent form design, infrastructure creation, budget/grant compilation and supervision of the program's genetic counseling staff. Stephanie also provides consultation to program staff and collaborators with regard to federal, state and institutional guidelines surrounding the protection of research participants. She is board certified by the American Board of Genetic Counseling and received her B.S. in biology from Syracuse University and her M.S. in human genetics from Sarah Lawrence College.
Marielle Thorne, BS
Natassia Vieira, PhD
Richard Yu, MD, PhD