UConn Health Researcher Awarded $20,000 Grant to Study Molecular Basis of Hao-Fountain Syndrome
核心洞察
Emilie Korchak from UConn Health (搜索) received a $20,000 research grant from Uplifting Athletes (搜索) and the Foundation for Hao-Fountain Syndrome (搜索) at the 2026 Young Investigator Draft in Philadelphia.
Her research uses NMR spectroscopy and biophysical binding assays to study how USP7 (搜索) gene variants disrupt protein folding, function, and binding, aiming to explain disease mechanisms.
Hao-Fountain Syndrome (搜索) is a rare neurodevelopmental disorder caused by USP7 (搜索) variants, associated with developmental delay, intellectual disability, and autism, with over 325 patients identified worldwide.
Emilie Korchak, a researcher in the structural biology lab at UConn Health (搜索), has been awarded a $20,000 research grant to advance understanding of how disease-causing variants in the USP7 (搜索) gene disrupt protein structure and function at the molecular level. The grant was presented on January 31, 2026, at Uplifting Athletes (搜索)' Young Investigator Draft held at Lincoln Financial Field in Philadelphia, Pennsylvania, where Korchak was among 10 rare disease researchers recognized as part of the 2026 Young Investigator Draft Class.
The research, conducted in the laboratory of Dr. Irina Bezsonova at UConn Health (搜索), focuses on elucidating the molecular underpinnings of Hao-Fountain Syndrome (搜索), also known as USP7 (搜索)-related neurodevelopmental disorder. The grant is equally co-funded by Uplifting Athletes (搜索) and the Foundation for Hao-Fountain Syndrome (搜索), which nominated Korchak for the award.
"Research funding is critical to advancing discovery of critical treatments and improving outcomes for people impacted by rare diseases who need it most. We are thrilled to partner with 10 patient advocacy organizations, and we are overjoyed to celebrate the 2026 Draft class," said Brett Brackett, President of Uplifting Athletes (搜索). "These world class researchers represent so much promise for tomorrow, and we are honored to have them on our team."
Understanding USP7 Variants at the Molecular Level
Korchak's research employs nuclear magnetic resonance (NMR) spectroscopy and biophysical binding assays to investigate how specific variants in the USP7 (搜索) gene alter the way the USP7 protein folds, functions, and interacts with its partner proteins. The central question driving this work is why different USP7 variants lead to the clinical manifestations of Hao-Fountain Syndrome (搜索) — knowledge that the Foundation describes as essential to designing future treatments.
"As the parent of a child with Hao-Fountain Syndrome (搜索), I know how much families like ours are counting on research like Emilie's," said Bo Bigelow, chairman and co-founder of the Foundation for Hao-Fountain Syndrome (搜索). "Her work is trying to solve one of the central questions in our disease: why specific changes in the USP7 (搜索) gene affect our kids the way they do. We're proud to fund this grant alongside Uplifting Athletes (搜索), and we're excited to have a researcher of her caliber working for our community."
A Rare Neurodevelopmental Disorder
Hao-Fountain Syndrome (搜索) is a rare genetic condition caused by variants in the USP7 (搜索) gene that affects both children and adults. The disorder is associated with developmental delay, intellectual disability, autism, and a range of other medical and behavioral challenges. To date, the Foundation for Hao-Fountain Syndrome (搜索) has identified more than 325 patients worldwide.
The Foundation, founded by parents of affected children in 2017, drives toward a cure by maintaining a patient registry, building a biorepository of samples for research, funding scientific studies, and partnering with clinicians and researchers in the United States and around the world. It also connects and supports affected families, helping those who are newly diagnosed find community, information, and care.
The Young Investigator Draft Model
The Young Investigator Draft is one of several signature initiatives created by Uplifting Athletes (搜索) to raise awareness and research funding for rare diseases, which affect approximately 30 million individuals in the United States — roughly 1 in 10 Americans. Inspired by the NFL Draft, the program shifts the focus from selecting athletic talent to recognizing promising young medical researchers in the rare disease field.
Grant submissions are evaluated by an expert panel of scientific advisors prior to the selection of each year's Draft Class. Every researcher is nominated by a patient advocacy organization recognized by Uplifting Athletes (搜索) as a priority partner. Over $1.2 million in grants have been awarded throughout the program's history, and Uplifting Athletes has raised more than $12 million since its founding in 2007 by engaging athletes to drive action, awareness, and research funding for the rare disease community.
The 2026 Young Investigator Draft audience included student-athlete leaders from Uplifting Athletes (搜索)' collegiate chapters across the country, notable professional athletes, biopharmaceutical representatives, healthcare professionals, and those directly impacted by rare diseases and their families.