ABOUT THE RARE DISEASE ADVISORY COUNCIL
Alabama Governor Kay Ivey established the Alabama Rare Disease Advisory Council in 2017 to serve as an advisory body to the governor and the Alabama Legislature. Our focus is on research, diagnosis, treatment, and education regarding rare diseases and their economic impact on the state. Our Council comprises 17 members representing distinct areas of expertise in medicine, research, advocacy, and government policy. The governor nominates each member to fulfill a three-year term of service.
Meet the Council Members:
Bruce R. Korf, MD, PhD | Council Chair
Dr. Korf is a medical geneticist with board certification in clinical genetics, clinical cytogenetics, clinical molecular genetics, pediatrics, and neurology (child neurology). He serves as Associate Dean for Genomic Medicine and Chief Genomics Officer of UAB Medicine and Director of Rare Disorders in the UAB Hugh Kaul Personalized Medicine Institute. Over the past seven years, he has led the UAB Undiagnosed Diseases Program, which is modeled on the original Undiagnosed Diseases Program at the NIH.
His role at UAB involves working with clinicians across the health system to integrate genetics and genomics into clinical practice. Dr. Korf serves as co-PI for a project in the Clinical Sequencing Evidence-Generating Research Consortium aimed at establishing the clinical utility of whole genome sequencing in diagnosis of sick newborns. He also leads the Alabama Genomic Health Initiative, which is a state-funded effort to introduce genomic medicine to citizens and health practitioners in the state.
Finally, he is the contact PI for the Southern All of Us Network, which is part of the national All of Us research initiative. He has also been active nationally and internationally in genetics and genomic medicine. He has served as president of the Association of Professors of Human and Medical Genetics and the American College of Medical Genetics and Genomics (ACMG), and now is the president of the ACMG Foundation for Genetic and Genomic Medicine. He is also on the steering committee of the Global Genomic Medical Collaborative. Finally, he is the editor-in-chief of the American Journal of Human Genetics, the official journal of the American Society of Human Genetics (ASHG).
Matthew Alexander, PhD
Dr. Alexander currently serves as Assistant Professor in Pediatric Neurology and Genetics and Center for Exercise Medicine (UCEM) Education Chair at the University of Alabama at Birmingham (UAB), where he maintains a research laboratory focused on identifying novel epigenetic and genetic regulators of human neuromuscular diseases and generating novel zebrafish models of disease for drug screening purposes.
Named a Pittman Scholar in 2019, he obtained a PhD in genetics and development from the University of Texas Southwestern Medical Center at Dallas where he studied the functional roles of forkhead transcription factors in the regulation of muscle cells. He later completed a postdoctoral fellowship at Harvard Medical School where his work focused on the roles of epigenetic and genetic modifiers of human neuromuscular disease.
Ms. Anthony serves as President of the PTEN Hamartoma Tumor Syndrome Foundation, an organization she founded in 2013 after a personal diagnostic odyssey led to her diagnosis of Cowden Syndrome, a rare disease associated with a mutation in the tumor- suppressor gene PTEN that increases the risk of certain cancers in affected individuals.
A three-time cancer survivor, Ms. Anthony advocates for research funding for PTEN as well as other rare diseases, lobbying for policy that will benefit affected patients and families. Her efforts to support PTEN syndrome research have been recognized by several national organizations including Stand Up to Cancer, the National Organization for Rare Disorders (NORD) and the American Cancer Society.
Elizabeth Barnby, DNP, ACNP-BC, FNP-BC, CRNP
Dr. Barnby currently serves as Clinical Associate Professor of Nursing at the University of Alabama in Huntsville (UAH), and she has extensive clinical expertise in acute care, primary care, and pediatric nursing as well as informatics and genetics/genomics.
Her research interests include inborn errors of metabolism, metabolomics, genomics, and tyrosinemia type I. As the mother of two children with tyrosinemia type 1, a rare genetic metabolic disorder, Dr. Barnby is familiar with the challenges faced by patients and families affected by rare diseases. She also serves as President of the Tyrosinemia Society, an international fundraising and advocacy organization dedicated to serving individuals and families affected by all forms of tyrosinemia.
Martina Bebin, MD
As a Professor of Neurology and Pediatrics at the University of Alabama at Birmingham
(UAB), Dr. Bebin utilizes her extensive clinical expertise in providing care to patients with Tuberous Sclerosis Complex (TSC), a rare genetic disorder associated with benign tumor growth in the brain and other vital organs. She completed pediatric neurology fellowship training at the Mayo Clinic and since 2007 has served as Co-Director of the UAB Tuberous Sclerosis Clinic that provides multidisciplinary care for TSC patients throughout their lives; the Clinic has been recognized as a TSC Center of Excellence by the TS Alliance.
For the past 20 years, Dr. Bebin has been involved in clinical drug development and has served as site Principal Investigator for numerous pediatric antiepileptic clinical trials as well as Director of the Pediatric Expanded Access Program for Cannabidiol in the State of Alabama. More recently, Dr. Bebin has participated in whole genome sequencing projects with the HudsonAlpha Institute for Biotechnology and the UAB Department of Genetics in children with unexplained developmental delays and various epilepsies.
Karen A. Fagan, MD
Dr. Fagan is Professor of Medicine and Pharmacology at the University of South Alabama (USA) and Chief of the Division of Pulmonary and Critical Care Medicine at USA University Hospital. She also serves as the Director of the USA Pulmonary Hypertension Center.
Dr. Fagan has spent her career in research and patient care for individuals with pulmonary arterial hypertension, a life-shortening illness that causes significant disability in people of any age, gender, or racial background in Alabama. Despite treatment advances, none are curative but are used to slow the progression of disease.
Crayton A. Fargason, Jr., MD, MM
Dr. Fargason is the Chief Medical Officer of Children’s of Alabama as well as a tenured Professor of Pediatrics in the Department of Pediatrics at the University of Alabama at Birmingham (UAB). He currently serves as the Director of Neurodevelopmental Initiatives, a collaborative effort by Children’s of Alabama and the University of Alabama at Birmingham to improve the services to children with developmental disabilities.
As the father of a child on the autism spectrum, Dr. Fargason has firsthand experience with the challenges faced by children and families with rare and complex diseases.
Mark N. Gillespie, PhD
Dr. Gillespie currently serves as a SAMSF-Locke Endowed Professor, Chair of Pharmacology, and Professor of Internal Medicine at the University of South Alabama (USA). After completing undergraduate and doctoral degrees at the University of Kentucky, he completed a postdoctoral fellowship at the University of Colorado’s Cardiovascular-Pulmonary Research Laboratory. Prior to joining the University of South Alabama in 1995, Dr. Gillespie served as Professor and Chairperson of Pharmacology and Experimental Therapeutics in the College of Pharmacy at the University of Kentucky.
For the past several decades, he has served as an ad hoc or regular member or chairperson of multiple NIH study sections and held leadership positions in organizations dedicated to lung health and disease. His research program, supported continuously by the NIH and other agencies for more than 30 years, focuses on translational aspects of vascular biology and pathology using model systems ranging in complexity from cultured cells to human subjects. He is a founding member of a startup biotechnology company with a mission to develop pharmacologic agents to repair oxidative damage to the mitochondrial genome as a therapeutic strategy in oxygen radical-mediated disease.
Mr. Griffin is the President and Chief Executive Officer of the non-profit Hope for Gabe Foundation (H4G), a national organization committed to patient advocacy and research support for Duchenne muscular dystrophy (DMD), a rare genetic disorder that results in progressive muscle degeneration and weakness.
A resident of Birmingham and father of four, Mr. Griffin founded the organization in 2010 when his then 3-year-old son, Gabe, received a diagnosis of DMD. Since that time, the H4G Foundation has accomplished a wide array of advocacy, awareness, and research efforts including the Gabe Griffin Right to Try Law passed in Alabama in 2015 to allow those with terminal diseases to have access to drugs not yet approved by the FDA.
In 2016, Mr. Griffin served as one of a panel of speakers at the FDA Advisory Committee in Washington that led to approval of the first FDA-approved drug for DMD, and in 2017 he was appointed by Governor Kay Ivey to serve on the Health Coordinating Council. The H4G Foundation has helped to fund research at Nationwide Children’s Hospital for a drug call Follistatin and has also partnered with other foundations to fund drug clinical trials and explore gene therapies for DMD.
Anna C. E. Hurst, MD, MS, FACMG
Anna C. E. Hurst, MD, MS, FACMG is a medical geneticist with board certification in clinical genetics and pediatrics. She is an associate professor in the Department of Genetics at University of Alabama at Birmingham and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. Prior to medical school, she received a master’s degree in genetic counseling, which inspired her interest in the communication of genetic information to patients and families with rare diseases.
Dr. Hurst is a physician for the UAB Undiagnosed Disease Program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama. She also is the medical geneticist for the Smith Family Clinic for Genomic Medicine in Huntsville, Alabama. She leads the Children’s of Alabama Genome Sequencing (COAGS) research study and is an investigator with the Alabama Genomic Health Initiative and SouthSeq research genome sequencing projects. Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs.She also has an interest in how the patient’s physical exam and facial features can be clues to a rare disease diagnosis (dysmorphology). She is also passionate about education and serves as theAssociate Program Director of the UAB Genetics Residency programs and Medical Director of the UAB Genetic Counseling Training Program.
Matthew Might, PhD
Dr. Might has served as the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might also serves as the Hugh Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine, and a Professor of Computer Science. Prior to joining UAB, Dr. might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School in 2015 where his research focused on rare disease discovery and diagnosis as well as the development of personalized therapeutics for rare disease. From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House where he worked primarily on President Obama’s Precision Medicine Initiative with both the NIH and the Department of Veterans Affairs.
Dr. Might’s journey from computer science to medicine was inspired by his son, Bertrand, who in 2012 became the first patient in the world to be diagnosed with NGLY1 deficiency. This diagnosis inspired Dr. Might to use social media to discover other patients and form a community; through the community’s efforts in science, two therapeutics for NGLY1 deficiency have been identified since its discovery, and more are under active development.
Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, a non-profit dedicated to finding treatments for NGLY1 deficiency, and he was a co-founder and Scientific Advisor to Pairnomix, a start-up which identifies potential patient-specific therapies for rare disorders, particularly epilepsies. Dr. Might holds a BS, MS, and PhD in Computer Science from the Georgia Institute of Technology.
Samuel Perna, III, DO
Dr. Perna has more than 10 years of medical experience in palliative medicine. He
currently serves as the Medical Director of the Pediatric Palliative Medicine Team at Children’s of Alabama and is also the lead physician for Aspire Health in Central and North Alabama. Dr. Perna is an Associate Professor of Medicine at the University of Alabama at Birmingham (UAB) with secondary academic appointments in nursing and pediatrics. He is board certified in both family medicine and hospice and palliative medicine and has distinguished himself as a Fellow of the American Academy of Hospice and Palliative Medicine.
Senator Dan Roberts
Senator Roberts represents district 15, which includes Jefferson, Shelby, and Talladega counties is Alabama. After graduating from Auburn University with a bachelor of science in building construction, Senator Roberts worked for Blount International in Alabama, South Korea, and Saudi Arabia. He earned a master of science in real estate development and urban affairs from Georgia State University, and while in graduate school he started a successful international trading company with an office in South Korea. After a season with Jim Wilson and Associates in Montgomery, he founded a real estate sales and development firm in Birmingham. Senator Roberts’ years of community leadership and service include the Entrepreneurs Round Table, Alabama Policy Institute, Racerunners, Young Business Leaders, and Leachman Ministries in Great Falls, Virginia (serving as Chairman of the Board).
Mrs. Shannon Sharp serves as the Vice President of the non-profit, The XLH Network, Inc., a national patient organization committed to promoting awareness, creating resources, and fostering the search for a cure for the rare disease x-linked hypophosphatemia (XLH). She also serves as a member of the International XLH Alliance.
Shannon is a third-generation rare disease patient living in Troy, Alabama. Throughout her childhood and adolescence, Shannon and her parents faced many challenges including lack of knowledge about her disease, inadequate treatment, insurance denials, and high cost of treatment. She attended Troy University majoring in business management. Determined to create a better patient environment, she worked as an office manager for a busy medical office for over 20 years.
Now that Shannon is retired from her office position, she has dedicated her life to rare disease awareness. She has visited Capitol Hill to raise awareness and educate lawmakers on the challenges patients encounter with a rare disease. Over the last 5 years, Shannon has traveled throughout the United States as an XLH Ambassador and speaker. She shares her experience of living with a rare disease; this is one of her favorite ways to advocate because it provides her an opportunity to meet and empower others in their own rare disease journeys. Shannon was appointed to the Alabama Rare Disease Advisory Council in 2022.
Tammi L. Skelton, MSN, CRNP
Ms. Skelton is a nurse practitioner at the University of Alabama at Birmingham (UAB) with experience in both internal medicine and pediatric primary care. In 2015, Ms. Skelton joined the UAB Department of Genetics where she works with Dr. Bruce Korf in providing care to patients in both the Neurofibromatosis Clinic and the Undiagnosed Diseases Program.
She received a B.S. in nursing from the University of Alabama at Birmingham (UAB) in 1992 and afterward joined Children’s of Alabama in the Pediatric Intensive Care Unit where she was a member of the Critical Care Transport Team, served as a Pediatric Advanced Life Support Instructor, and helped to initiate the Trauma Prevention Program that provides education for teens with traffic violations.
She later became interested in pediatric clinical research and received certification as a Clinical Research Coordinator from the Association of Clinical Research Professionals (ACRP) in 2004. Ms. Skelton completed a master’s degree in nursing at UAB in 2012 and is certified through the American Association of Nurse Practitioners (AANP) as a family nurse practitioner.
Stephen Olufemi Sodeke, PhD
Dr. Sodeke is Resident Bioethicist and Professor of Allied Health and Bioethics at the Tuskegee University Center for Biomedical Research. He also currently chairs the Tuskegee University Institutional Review Board and serves as a bioethicist for the Alabama Genomic Health Initiative (AGHI) and for the Southern All of Us Research Network; he additionally serves as Resource Expert for NGO Bioethics Beyond Borders.
At various periods during past 15 years, Dr. Sodeke has served as Associate Director and Interim Director of the Tuskegee University National Center for Bioethics in Research and Health Care. He holds a PhD in curriculum and instruction in allied health education, supervision, and administration from the University of Florida, a master’s degrees in clinical laboratory science education and guidance from Texas Christian University and in bioethics and health policy from Loyola University of Chicago.
Dr. Sodeke holds certifications in bioethics from the Kennedy Institute of Ethics at Georgetown University as well as in health care ethics from the University of Washington in Seattle. He participates in ethics consultations and speaking engagements that promote the goals and purposes of bioethics in medical, biomedical, and behavioral research locally, nationally, and internationally.
Katelyn Staley, MSN, CRNP
Ms. Staley serves as the Discharge Coordinator for Cardiovascular Services at Children’s of Alabama. After obtaining a BS in Nursing at the University of Alabama at Birmingham (UAB), she began her nursing career at UAB Hospital in the Regional Newborn Intensive Care Unit (RNICU). Ms. Staley later obtained a master’s degree in nursing at UAB, specializing in pediatric primary and acute care. She is committed to serving patients in the rare disease community along with her husband, who serves on the board of the Hope for Gabe Foundation to end Duchenne muscular dystrophy.