HudsonAlpha Institute for Biotechnology’s Double Helix Dash 5K and 1-mile run is a staple of the Huntsville community. On the first Tuesday in April, hundreds of runners, volunteers, and members of the community come together on HudsonAlpha’s campus to raise awareness and support for HudsonAlpha’s research on childhood neurodevelopmental diseases, as well as HudsonAlpha’s Smith Family Clinic for Genomic Medicine.

Over 30 million people in the United States suffer from a rare disease, and over half are children. In over 70% of cases, rare diseases are caused by an underlying genetic condition, however, genetic conditions can be challenging to diagnose. Undiagnosed genetic conditions can create barriers to effective treatment, leaving families searching for answers on how to best care for their children.

HudsonAlpha is working to ensure every child facing these complex conditions has access to a diagnosis. HudsonAlpha scientists work hard to understand the genetic mechanisms behind these diseases, discover new disease-linked genes, and share their knowledge with researchers and clinicians around the world so children everywhere can get the diagnosis they need.

At HudsonAlpha’s Smith Family Clinic, genetic counselors and a medical geneticist use the power of genetic testing to help diagnose children who struggle with neurodevelopmental disease, connect them with important resources, and improve their care plans for years to come.

Leaning on their expertise in untangling the genetics behind diseases, HudsonAlpha researchers and the Smith Family Clinic team diagnosed Tiana Vega with Rett syndrome, a rare neurodegenerative disorder that only affects girls. Having access to a diagnosis has allowed the Vega family to better adapt Tiana’s care plan to her needs, including helping her become eligible for Daybue^®, the only FDA-approved medication for Rett syndrome made by Acadia Pharmaceuticals. 

Acadia Pharmaceuticals, a pharmaceutical company based in San Diego, California, shares HudsonAlpha’s commitment to improving the lives of patients struggling with rare diseases through the development of life-changing medications.

When Jessica Klein, Senior Liaison for Patient Advocacy and Industry Relations at Acadia, learned about HudsonAlpa through Victor, Tiana’s father, she knew she wanted to learn more and get involved. Supporting HudsonAlpha’s Double Helix Dash was a natural way to support HudsonAlpha’s research and help raise community awareness for families who struggle with their children’s rare genetic conditions. 

“Helping children find hope and a brighter future is an important part of Acadia’s mission, and it’s what drives our innovations in medications for neurological disorders like the kind HudsonAlpha researches. After learning more about HudsonAlpha’s work to better understand and diagnose rare neurodevelopmental disorders, it’s clear that our values and priorities are aligned. It’s a pleasure to support such an important cause that we are both approaching from different perspectives.”