The Rare Community Response and Call
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How can the medical community best support the rare disease community?
Join Austin PBS and U.R. Our Hope for an online screening and discussion around the new documentary Ken Burns presents The Gene: An Intimate History.
Followed will be a discussion about patient empowerment and support.
The Gene Screening Reel - Unlisted
- Sara Robertson
Sara Robertson has an extensive background in production for broadcast and digital platforms. As Senior Vice President for Production at KLRU-TV she is responsible for strategic planning and execution of station production. She is also proud to serve on the board of directors for Cloves Syndrome Community which serves to support, educate, empower and improve the lives of those affected by CLOVES Syndrome
- Jessica Anderson
Ms. Anderson's daughter Ava remained undiagnosed for four years before a muscle biopsy suggested mitochondrial depletion syndrome. This is considered only a partial diagnosis as the genetic link has yet to be discovered. Ava has an ultra-rare genetic variant of uncertain significance, though she must wait for science to catch up to gain more insights.
- Dr. Danielle Kerkovich
Dr. Kerkovich is the principal scientist with the Beyond Batten Disease, an Austin-based foundation established to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure.
- Moise L. Levy, M.D.
Dr. Levy is board certified in pediatrics, dermatology and pediatric dermatology. He has many years of experience in patient care, teaching and clinical research and is currently a member of the Pediatric/Adolescent Dermatology service at Dell Children’s Medical Center and faculty at the Dell Medical School, University of Texas at Austin. Dr. Levy's special interests include general pediatric skin diseases, inherited skin disorders, vascular birthmarks and clinical research. He has been a strong advocate for patients and the importance of anticipatory guidance as it relates to children’s health care.
- Dr. Mary Elizabeth Parker
Dr. Parker is board certified in both neurologic and pediatric therapy by the Academy of Board Certified Specialists which is unique in the field. Her passion is working with those with undiagnosed and rare disorders, and she serves this community through her role as the Medical Liaison for U.R. Our Hope. In addition to rare disorders, her research interests also include movement disorders in autism.
- Marilyn Schmeidel
Ms. Schmeidel's daughter Maddy is 12 and has been waiting for over 11 years for a diagnosis. She is the only known person in the world with her genetic mutation.
The views and opinions expressed in this online screening are those of the presenters and participants, and do not necessarily reflect the views or policies of ITVS, public broadcasting, or any entities hosting the screening.