Scientists from the HudsonAlpha Institute for Biotechnology will discuss how advances in genomics are transforming the diagnosis of rare diseases during a free public event at Stovehouse on February 3.
The event, titled “Tiny Genes, Big Effects: Hope for Rare Diseases,” will take place at The Belle at Stovehouse and is designed to give the community an accessible look at how modern genetic research is unlocking answers for patients and families who have spent years searching for diagnoses.
The evening begins with a social networking happy hour from 5 to 6 p.m., followed by a TED-style program from 6 to 7 p.m. featuring visual presentations that explore the science behind rare disease discovery.
Organizers say the format is intended to move away from traditional lectures and instead create an engaging, conversational learning experience.
Three HudsonAlpha experts will lead the discussion. Greg Cooper, a faculty investigator at HudsonAlpha, specializes in using advanced genomic sequencing to identify specific DNA variations linked to rare neurodevelopmental disorders.
Susan Hiatt, a research faculty investigator in Cooper’s lab, focuses on integrating cutting-edge sequencing technologies into data analysis to uncover new disease-causing genes.
Whitley Kelley, a board-certified genetic counselor, works directly with families to help translate complex genetic data into meaningful clinical guidance.
The program will trace the evolution of disease diagnosis, from early historical approaches to today’s high-tech laboratories, and will highlight how identifying a single genetic change can provide long-awaited answers and guide future research and treatment options.
Admission is free and open to the public, though space is limited and advance registration is requested.
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