We have supported research projects led by the following investigators.


Deirdre McCarthy

Deirdre McCarthy


Tay-Sachs disease


Elizabeth Hammock

Elizabeth Hammock


Prader-Willi syndrome


Jerome Irianto

Jerome Irianto


Pediatric glioblastoma

Michelle Parvatiyar

Michelle Parvatiyar

Duchenne muscular dystrophy


Qing-Xiang (Amy) Sang

Qing-Xiang Sang


Atypical Teratoid Rhabdoid Tumor

Coming Soon


Triston Driscoll

Triston Driscoll


Hypoplastic Left Heart Syndrome


James Fadool

Jim Fadool


Animal models of neural developmental disorders


Kelly Farquharson

Kelly Farquharson


Pediatric Motor Speech Disorders

Our research program is focused on discovering and developing technologies for the diagnosis and treatment of a broad spectrum of rare diseases. The Institute awards milestone-based funding to support research projects. Research grant applications are invited twice a year and reviewed by the Institute’s Research  Advisory Council . The council performs peer-review of grant applications, monitors progress, and offers advice and assistance to award recipients during the post-award period. The Council is also responsible for performing periodic reviews of the Institute’s Rare Disease Research Grant Program priorities.

Research Advisory Council:

Pradeep Bhide, Ph.D.
Cynthia Vied, Ph.D.
Michelle Arbeitman, Ph.D.
David Ledbetter, Ph.D., FACMG
Richard Nowakowski, Ph.D.

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