It’s the little things: HudsonAlpha scientists discuss future of rare disease diagnosis

It was a tiny topic that kicked off a big year for the HudsonAlpha Event Series.

What happens when a tiny, invisible change in DNA alters the course of a life?

For many families, the answer has been locked away for years … until now.

HudsonAlpha Institute for Biotechnology scientists presented “Tiny Genes, Big Effects: Hope for Rare Diseases,” a free event that revealed how modern science is solving medical mysteries that were once considered unsolvable. The program is part of the HudsonAlpha series “Understand the Role DNA Plays in Your Life.”

Hosted at The Electric Belle at Stovehouse instead of at the Jackson Center on the HudsonAlpha campus, the evening broke the mold of a traditional seminar. After social networking and a happy hour, a TED talk-style learning experience featured visually stunning presentations that brought the world of genomics to life.

Dr. Sarah Sharman opened the night, taking the audience on a journey of diabetes diagnosis from 100 A.D. Rome to 1850s’ London to today.

“This historical journey shows us that breakthroughs in medicine rarely come from knowledge or technology alone, it’s their combination that really changes everything,” she said. “The fundamental discovery that sugar in urine was a marker in the disease combined with the chemical assays and later combined with advanced diagnostic tools to create the precision medicine that benefits us all today.”

While diabetes is a much-studied and common disease, it’s the rare diseases that pose a different challenge, Sharman said.

The program featured three leading voices in the field:

Greg Cooper, Ph.D.: A HudsonAlpha faculty investigator who uses advanced genomic sequencing to hunt for the specific DNA “typos” responsible for rare neurodevelopmental conditions.
Susan Hiatt, Ph.D.: A research faculty investigator in Cooper’s lab, she implements cutting-edge sequencing techniques into the analysis pipeline to identify new disease genes.
Whitley Kelley: A board-certified genetic counselor who bridges the gap between complex data and patient care, helping families navigate their diagnostic journeys.

The audience was shown how identifying a single genetic change can unlock life-changing answers for patients and provide a roadmap for future research and treatments.

Cooper compared the “crazy idea” of advanced genomic sequencing to the program that put man on the moon.

“It became a rallying flag, a goal, that united a whole bunch of labs all across the world much like saying ‘we’re going to put people on the moon’ became a rallying flag to technology in the ‘60s and engineering,” he said. “And just like the moon landing, this fostered a huge amount of cooperation, innovation, engineering and, in fact, over the next 10 years they were able to generate a single draft copy of one human genome.

“This achievement is comparable to the moon landing in the sense of it’s really emblematic of what humans can do when they work together. And it was a huge achievement that transformed our understanding of the world and our place in that natural world.”

From public seminars on the inner workings of genomics to updates on its latest research, HudsonAlpha is hosting this series to help people understand the role DNA plays in lives, medical care, and environment.

HudsonAlpha Event Series

HudsonAlpha U
Recent Genomics and Biotech Discoveries
Feb. 24, 6 p.m., The Jackson Center
Spring Benefit
Rewriting the Future of Alzheimer’s Disease in Alabama
April 23, 6 p.m., The Jackson Center
Memory and Mobility
June 23, 5:30 p.m., The Jackson Center
Southern Solutions
Plant Science as an Economic Engine
Aug. 18, 5:30 p.m., Mars Music Hall
Future Proof: The Science of Healthy Aging
Part two of the three-part aging series featuring Dr. Neil Lamb and Kelly East
Oct. 13, 5:30 p.m., The Jackson Center
Future Proof: The Science of Healthy Aging
Part three of the three-part aging series featuring Dr. Neil Lamb and Kelly East
Nov. 17, 5:30 p.m., The Jackson Center