This year North Carolina lawmakers passed a bill that formed an Advisory Council on Rare Disease, House Bill 823, which is housed in the UNC School of Medicine. The council was established to give guidance to the Governor, the Secretary, and the General Assembly on research, diagnosis, treatment and education related to rare disease.
The council consists of rare disease advocates including providers, researchers and patients. The recommendations of appointments to the council have been approved by Richard Brajer, Secretary of North Carolina Department of Health and Human Services (DHHS).
Members of the Advisory Council
Dr. Bruce Cairns, MD, serves as the Chair of the NC Rare Disease Advisory Council. Dr. Cairns is the John Stackhouse Distinguished Professor of Surgery and Director of the North Carolina Jaycee Burn Center in the UNC School of Medicine. Raised in North Carolina, Dr. Cairns received his Bachelor of Arts degree from the Johns Hopkins University and his MD degree from the University of Pennsylvania. Following surgical training at UNC-Chapel Hill, Dr. Cairns served on active duty in the US Navy on Guam and Camp Lejeune. Dr. Cairns has been a member of the faculty at UNC-Chapel Hill since 2000, where he has a joint appointment in the Department of Microbiology and Immunology. Dr. Cairns is funded by the National Institutes of Health, has authored or co-authored over 140 papers, and has an active laboratory with several graduate students. As director of one of the largest academic burn centers in the nation, Dr. Cairns cares for a number of rare and devastating skin diseases including Stevens-Johnson Syndrome (SJS)/ Toxic Epidermal Necrolysis (TEN). Dr. Cairns has won numerous awards and accolades during his career and most recently, was elected to a three-year term as Chair of the Faculty at UNC-Chapel Hill from 2014-2017.
The Honorable Rufus Edmisten, former NC Attorney General and Secretary of State, serves as a rare disease survivor. Rufus Edmisten was born and raised in Boone, North Carolina. He earned an undergraduate degree in political science at the University of North Carolina at Chapel Hill and a J.D. with honors from George Washington University in Washington, D.C. After 10-years of service on North Carolina Senator Sam Ervin's staff that culminated with a position Deputy Chief Counsel to the Watergate Committee, he returned to North Carolina in 1974. Rufus was elected the state's Attorney General in 1974, an office he held until he won the Democratic nomination for governor in 1984. In 1988 he was elected to the office of Secretary of State. In 1996 he concluded over 30 years of public service and launched a governmental relations legal practice that has become Edmisten, Webb & Moore. Edmisten has filled key roles in several private organizations outside of his legal practice. He runs a charity in North Carolina called the Foundation for Good Business: Extra Special Super Kids. The Super Kids program provides college scholarships to underprivileged high school students who wish to pursue higher learning. Rufus has served on the N.C. Capitol Foundation for over 25 years, including a six-year stint (2000-2006) as President of the foundation. He is a member of the boards of directors of the Julia Crump Foundation and Project Enlightenment, both of which are charitable organizations that seek to enhance educational opportunities for disadvantaged youths. Rufus also served as a board member for the Raleigh region of Union Bank. Thirty years ago, Rufus, famous Jim Valvano, and Don Shea founded the Jim Valvano Kids Klassic Golf Tournament, which has raised several million dollars to seek a cure for children suffering from cancer at Duke University Hospital. His prior public service as Attorney General and Secretary of State allows him entry to higher level discussions in such organizations as the National Association of Attorneys General and the National Association of Secretaries of State. Rufus is a regular panelist on North Carolina’s most popular television show on politics, NC SPIN. He is also a go-to legal commentator on Court TV whenever North Carolina court cases are in the national spotlight.
Sharon King, Founder of Taylor’s Tale Foundation, Chair of NC Rare Disease Coalition, serves as the patient advocate. Ms. King is the mother of a child with Batten Disease. She founded Taylor’s Tale Foundation after Taylor was diagnosed. She is also forming the NC Rare Disease Coalition for patient advocates and worked with UNC to initiate this legislation,
Dr. Vandana Shashi, MD, MB, BS, Professor of Pediatrics, Genetics, Duke University Medical Center, is a Representative from Duke University School of Medicine. Vandana Shashi is a Professor of Pediatrics, within the Division of Medical Genetics at Duke University Medical Center. She completed medical school and a pediatric residency at Kasturba Medical College in Manipal, India. She worked as a pediatric registrar in Aberdeen, UK and completed pediatric residency at the Bowman Gray School of Medicine, followed by a fellowship in clinical genetics at the University of Virginia. She was on the faculty of Wake Forest University School of Medicine for 11 years and has been at Duke for the last seven years. She has been funded by the NIH for her research studies and is the Principal Investigator of the Undiagnosed Diseases Network clinical site at Duke. She has published over 70 papers and has received a number of awards for her research. She has over 20 years of experience caring for children and adults with rare and undiagnosed diseases.
Michael R. Knowles, MD, Professor of Medicine, Cystic Fibrosis, UNC School of Medicine serves as a physician with experience researching, diagnosing and treating rare disease. Dr. Knowles is a native North Carolinian who received his Bachelor’s Degree in Chemistry as a Morehead-Cain Scholar at UNC, and his M.D. degree from UNC-Chapel Hill. Dr. Knowles did his general medical training at Ohio State University and at Duke University Medical Center, where he was Chief Resident in Medicine. He served on active duty in the U.S. Air Force at Andrews Air Force base near Washington, D.C. After military service, Dr. Knowles returned to UNC-Chapel Hill to do his pulmonary training, and has been a member of the UNC medical faculty since 1980. He served a research sabbatical at the UK Medical Research Council at The University of Cambridge, England in 1988-1989. Dr. Knowles has been active in NIH-sponsored research on rare diseases of the lung for several decades, and has published over 180 peer-reviewed manuscripts. He co-founded and leads 2 multicenter rare disease research networks that study cystic fibrosis and primary ciliary dyskinesia in the U.S. and internationally. His clinical efforts have focused on complex pulmonary diseases, and he co-founded and served as co-Director (1982-2014) of the large Adult CF Clinical Center at UNC. Dr. Knowles has received several awards for scientific accomplishments in the field of rare pulmonary diseases, and continues to be a leader in clinical care and research in this arena.
Dr. Jude Samulski, PhD, Director of the UNC Gene Therapy Center, serves as a medical researcher. Dr. Samulski is a Professor of Pharmacology, at UNC School of Medicine and has served as Director of Gene Therapy at the University of North Carolina at Chapel Hill since 1993. Having received his Ph.D. in Medical Microbiology and Immunology from the University of Florida, followed by post-doctoral training at Princeton, he initiated his independent lab at University of Pittsburgh (1986-93), where his research has primarily focused on the study of the human non-pathogenic parvovirus adeno-associated virus (AAV). He has long pioneered methodologies for using viruses to deliver genes effectively and safely to various targets in the body, including the brain, lungs, heart and muscle. As a graduate student at the U of Fla in the early 1980s, his thesis project was initial cloning and development of AAV as a vector for therapeutic genes. This work eventually led to development of AAV type-2 as a viral vector, which has been used for gene therapy trials in cystic fibrosis, hemophilia, Parkinson’s disease, retinal disorders and in several other settings, including the first clinical trial of gene therapy for muscular dystrophy in the United States. Development of self-complementary AAV vectors as well as first use of chimeric AAV vectors in clinical setting has continued to provide and advanced the gene transfer community in treatment of Orphan diseases with these novel therapeutics. Based on these accomplishments, Dr. Samulski has received various awards including “Hemophilia Research of the Year”, the first recipient of American Society of Cell and Gene Therapy (ASCGT) “Outstanding Achievement Award”, and recent “Gene Therapy Pioneer Award”. In addition to serving on many relevant committees (e.g. RAC, FDA advisory board), Dr. Samulski served as President of ASCGT and initiated the first US/China Gene Therapy symposium. In addition to his work at UNC and aboard, Dr. Samulski has founded the Chapel Hill Project, a non-profit organization focused on facilitating gene therapy clinical trials for orphan diseases.
Brenda Nielsen, RN, UNC Comprehensive Hemophilia Diagnostic and Treatment Center serves as a Registered Nurse. Brenda Nielsen serves as a nurse consultant at the Harold R. Roberts Comprehensive Hemophilia Diagnostic and Treatment Center at the University of North Carolina at Chapel Hill since 1992. Ms. Nielsen also holds an adjunct assistant professor position at the School of Nursing at UNC-Chapel Hill. Ms. Nielsen received her bachelors and masters degree in nursing at the University of North Carolina at Chapel Hill. The UNC Hemophilia Center follows approximately 450 patients with hemophilia and other bleeding disorders from across North Carolina through dedicated Adult and Pediatric outpatient Clinics. She coordinates and provides care and patient education for children and adults with bleeding disorders and serves as a resource and conduct educational inservices about hemophilia within UNC and in North Carolina community agencies including schools, home health agencies, and outside hospitals. She is actively involved in data management for the UNC Hemophilia Center and clinical research related to bleeding disorders and coordinates investigator initiated studies and industry sponsored clinical trials.
Dr. Randall Williams, MD, Deputy Secretary of Health and Human Services, State Health Director, serves as the ex-officio member. Dr. Williams has been engaged in both taking care of patients in North Carolina and in public health for the last 26 years. A native North Carolinian, he graduated from the University of North Carolina at Chapel Hill with honors with a double major in History and Zoology, and went on to the UNC School of Medicine where he was a Holderness Fellow and co-founded the Students Teaching Early Prevention initiative. He then served as Administrative Chief Resident in Obstetrics and Gynecology at North Carolina Memorial Hospital. Since 1989, Williams has served as president of the Wake County Medical Society and on the Wake County Board of Health. He was elected by the North Carolina Medical Society (NCMS) to serve on the North Carolina Commission for Public Health from 2004 until 2012. He is president-elect of the UNC School of Medicine Alumni Association. For the last 11 years, Williams has served as a volunteer in U.S. State Department and World Health Organization sponsored endeavors, teaching physicians and helping with clinical governance overseas. Serving mostly in conflict zones, his work has taken him to Iraq on 11 deployments in addition to Afghanistan, Libya and Haiti. He has been recognized as the Red Cross Humanitarian of the Year, Raleigh News & Observer Tar Heel of the Week and Triangle Business Journal Health Care Hero of the Year.
Tara Britt, UNC School of Medicine, serves as Associate Chair for the council, facilitating the activities of the council. She will provide funding opportunities and administrative oversight including corporate partnership opportunities and economic development.