Huntsville, Ala. – Researchers at the HudsonAlpha Institute for Biotechnology have newly linked a gene to developmental disability, showing the promise of international collaboration to solve the genetic mysteries that can leave patients searching for answers, sometimes for decades.
Scientists in Greg Cooper’s lab led the effort, while other researchers the world over contributed through a tool called GeneMatcher. Six different groups independently submitted the gene in question for further examination. Contributions originated everywhere from Hawaii to Paris, Huntsville to Prague. Cooper’s lab worked with these other groups and found that variations on a gene called RALA are linked to a set of developmental delays and intellectual disabilities. The finding was first published in PLOS Genetics in November 2018.
The patients identified with the RALA variation all showed speech problems. Ten out of eleven of the patients also suffered from muscular issues with eight unable to walk. Nine of the eleven had what are called dysmorphic facial features.
“Identifying the impact of RALA variants is important for scientists, clinicians, and patients,” Greg Cooper, PhD, said. “It’s so rewarding when we can help patients and their families find the answers they’ve been searching for — often for a literal lifetime.” Cooper is a faculty investigator at HudsonAlpha.
Shawn Levy, PhD, who heads HudsonAlpha’s Genomic Services Laboratory (GSL) that performed the sequencing on a number of the samples, also conveyed his satisfaction, “It’s hard to describe the feeling of contributing to these types of findings. It changes people’s lives.”
Developmental delays and intellectual disabilities (DD/ID) affect between 1-2% of individuals worldwide. However, huge swaths of that population still don’t have answers as to the specific causes of their symptoms.
Once patients get a diagnosis, it becomes easier to find support, and doctors gain the ability to compare notes on treatment, honing in on specific approaches to help patients with their symptoms. An explanation of symptoms can also increase the availability of some treatments for patients, who may need a specific diagnosis to get access.
“Ending the diagnostic odyssey is one of the areas where the type of genomic research we do here at HudsonAlpha truly shines,” Cooper said.
HudsonAlpha President Richard M. Myers, PhD, added, “These discoveries show the power of HudsonAlpha’s research, especially when paired with the resources of important collaborators like the University of Alabama at Birmingham, the Clinical Sequencing Evidence-Generating Research (CSER) Consortium and the Alabama Genomic Health Initiative (AGHI). All collaborators helped to provide data and insight, while Cooper’s lab synthesized it all into this new diagnostic information.”
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to developing and applying scientific advances to health, agriculture, learning, and commercialization. Opened in 2008, HudsonAlpha’s vision is to leverage the synergy between discovery, education, medicine, and economic development in genomic sciences to improve the human condition around the globe. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. The state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education and includes more than 30 diverse biotech companies on campus. To learn more about HudsonAlpha, visit hudsonalpha.org.