We have supported research projects led by the following investigators.


Akash Gunjan

Akash Gunjan


Pediatric high-grade glioblastoma


Cesar Rodriguez

Cesar Rodriguez


1. Fish odor syndrome
2. Rare disease AI knowledge hub


Choogon Lee

Choogan Lee


Pediatric hypercholesterolemia


Deirdre McCarthy

Deirdre McCarthy


Tay-Sachs disease


Elizabeth Hammock

Elizabeth Hammock


Prader-Willi syndrome


Jerome Irianto

Jerome Irianto


Pediatric glioblastoma

Jose Pinto

Jose Pinto


Pediatric cardiomyopathy

Michelle Parvatiyar

Michelle Parvatiyar

Duchenne muscular dystrophy


Qing-Xiang (Amy) Sang

Qing-Xiang Sang


Atypical Teratoid Rhabdoid Tumor

Stephen Chelko

Stephen Chelko

Arrhythmogenic Cardiomyopathy

Timothy Megraw

Timothy Megraw

Alström syndrome

Yi Ren

Ren Yi


Pediatric glioblastoma multiforme

Yi Zhou

Yi Zhou


1. Brain organoids
2. Developmental and Epileptic Encephalopathies

Yuan Wang

Yuan Wang

Fragile X syndrome

Yue (Julia) Wang

Yue Wang

Congenital hyperinsulinemia

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.
David Ledbetter, Ph.D., FACMG
Cynthia Vied, Ph.D.
Michelle Arbeitman, Ph.D.
Antonia Nemec, Ph.D.
Richard Nowakowski, Ph.D.

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