O'Shaughnessy Ventures Backs Bioengineer Developing Gene Therapy for Rare Muscular Dystrophy She Lives With
核心洞察
Hélöise Hoffmann, a Stanford bioengineering student diagnosed with FSHD at age 13, has been awarded an O'Shaughnessy Fellowship to develop a gene therapy for the disease.
FSHD affects nearly 1 million people worldwide and has no cure; Hoffmann's approach engineers a protein that blocks DUX4 (搜索) from activating muscle-toxic genes rather than shutting down DUX4 production.
Her approach has already demonstrated meaningful blockade of DUX4 (搜索) activity in patient cells, with plans to validate the technique in mouse models as groundwork for human clinical trials.
A Stanford University bioengineering student who has lived with facioscapulohumeral muscular dystrophy (搜索) (FSHD) since age 13 has received an O'Shaughnessy Fellowship to pursue a novel gene therapy strategy for the disease — one she hopes may ultimately help nearly 1 million people worldwide who share her diagnosis.
Hélöise Hoffmann, a senior at Stanford, was awarded the fellowship by O'Shaughnessy Ventures (搜索) LLC (OSV), an investment firm founded by quantitative investing pioneer Jim O'Shaughnessy. The fellowship provides a grant of up to $100,000 and access to OSV's network of founders, investors, and experts.
"The people closest to a problem are often best positioned to solve it," said Jim O'Shaughnessy, OSV's founder and CEO. "Hélöise's scientific credentials match her personal conviction. We're thrilled to be backing her."
A Differentiated Approach to Targeting DUX4 (搜索)
FSHD is a rare muscle disease with no approved cure. Most current research efforts focus on shutting down production of DUX4 (搜索), the toxic protein at the root of the condition. Hoffmann is pursuing an alternative strategy: engineering a protein that blocks DUX4 from activating genes that are toxic to muscles, rather than attempting to eliminate the protein itself.
She has already demonstrated that her approach meaningfully blocks DUX4 (搜索) activity in patient-derived cells. The next phase of the work involves validating the technique in mouse models, which would lay the groundwork for future human clinical trials. Hoffmann believes the method could also form a broader platform for treating other diseases driven by harmful gene activation, should it prove successful.
Building Momentum Through Competition and Collaboration
Hoffmann conducts her research in the Stanley Qi Lab at Stanford University. She launched the project in 2024, leading a team of eight undergraduates to a gold medal at the International Genetically Engineered Machine (iGEM) synthetic biology competition in Paris. She and a team of collaborators subsequently won a $50,000 grant from Stanford's Sarafan ChEM-H Undergraduate Entrepreneurship Program to advance the work.
Beyond the laboratory, Hoffmann founded GenZ of FSHD, a global community empowering young patients to advocate for and accelerate research into the disease. She has worked closely with the FSHD Society to raise awareness and funding, and has interned at Regeneron Pharmaceuticals, where she contributed to gene therapy candidates for muscular dystrophy.
"Receiving this fellowship means I get to dedicate my life to the most meaningful work I can imagine: trying to cure the disease I and nearly 1 million others worldwide live with," Hoffmann said. "I could not be more grateful to Jim and the OSV team for their belief in this mission and the vision of a world free from FSHD. I can't wait to get to work."
About the O'Shaughnessy Fellowships
Launched in 2023, the O'Shaughnessy Fellowships program discovers and supports creators, builders, and researchers pursuing bold ideas. Fellows receive a grant of up to $100,000 and gain access to OSV's network of founders, investors, and experts. OSV will award up to 20 fellowships in 2026, with Hoffmann announced as the sixth fellow of the year.