August 27, 2018

Alabama Rare Diseases Advisory Council to hold first meeting

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The newly created Alabama Rare Diseases Advisory Council holds its first meeting at UAB.

alabama webWith more than 400,000 of its residents affected by rare diseases, the state of Alabama has created the Alabama Rare Diseases Advisory Council to advise the governor and legislature on research, diagnosis, treatment and education regarding rare diseases and their impact on the state. The council will hold its inaugural meeting today at UAB.

The council is headquartered at the University of Alabama at Birmingham School of Medicine. Upon the recommendation of the dean of the school, Selwyn Vickers, M.D., Gov. Kay Ivey has appointed Bruce Korf, M.D., Ph.D., chief genomics officer at UAB, as the chair.

“Alabama is now at the forefront of genomic medicine,” said Korf, the Wayne H. and Sara Crews Finley Chair in Medical Genetics. “We have new tools such as the Alabama Genomic Health Initiative and the National Institutes of Health All of Us Research Program that are driving innovation and developing new knowledge of rare diseases. The council will provide a comprehensive way for us to share those advances with state leaders, medical professionals, advocacy groups and families across the state.”

The duties of the council include collecting data on rare diseases, including cost and economic impact on the people of Alabama, along with coordinating disease collaborations between stakeholder organizations. The council will facilitate research opportunities between academic medical centers, biotech and pharmaceutical companies, non-profit research and medical institutions, advocacy groups, and state/federal funding agencies.

The council will report annually to the legislature with the goal of addressing rare disease policies that will positively impact the residents of the state.

“With the establishment of the Alabama Rare Diseases Advisory Council, our state is taking a leadership role in bringing together patient advocates, health providers, medical researchers and policymakers to find solutions for rare disorders that affect members of our community,” Korf said.

Ivey has nominated the following individuals to three-year terms of service on the council:

  • Matthew Alexander, Ph.D., assistant professor of pediatric neurology, UAB Department of Pediatrics and Children’s of Alabama.
  • Kristin Anthony, president, PTEN Hamartoma Tumor Syndrome Foundation.
  • Martina Bebin, M.D., professor, UAB Department of Neurology.
  • David Bick, M.D., faculty investigator, HudsonAlpha Institute for Biotechnology, Huntsville.
  • Katelyn Englert, CPNP, pediatric nurse practitioner, Children’s of Alabama
  • Mark Gillespie, Ph.D., Professor and Chair, Department of Pharmacology, University of South Alabama.
  • Scott Griffin, president, Hope for Gabe Foundation.
  • Matt Might, Ph.D., director of the Hugh Kaul Precision Medicine Institute, UAB.
  • Sam Perna, D.O., assistant professor, Division of Gerontology, Geriatrics and Palliative Care, Department of Medicine, UAB.
  • Stephen Sodeke, Ph.D., professor of Allied Health Sciences, Tuskegee University.

According to the National Institutes of Health, a disease is rare if it affects fewer than 200,000 people. One in 10 Americans has a rare disease — nearly 30 million people — and nearly half of these patients are children. For the 7,000 known rare diseases, there are only approximately 450 FDA-approved treatments.

The act creating the Alabama Rare Diseases Advisory Council noted that such an organization of knowledgeable professionals in this area could help Alabama leaders better understand and address the needs of rare disease patients and take appropriate measures at the state level that can positively impact Alabama residents with rare diseases.

The effort to pass the legislation was a collaboration between legislators, leading state health care organizations and rare disease advocates across the state, including Swapna Kakani, Huntsville resident, rare disease patient and leader of the Alabama Rare Coalition; Kristin Anthony, rare disease patient and founder of the PTEN Foundation in Huntsville; and Scott Griffin, a parent of a child with a rare disease and founder of the Hope for Gabe Foundation in Birmingham.

The legislation was sponsored by April Weaver (R), House District 49; Tommy Hanes (R), House District 23; Joe Lovvorn (R), House District 79; Mike Ball (R), House District 10; Phil Williams (R), House District 6; Matt Fridy (R), House District 73; and Alan Harper (R), House District 61.