Rare Disease Research Program

We have supported research projects led by the following investigators during the 2023-24 funding cycle.                                                                                                                               

                   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.
Cynthia Vied, Ph.D.
Michelle Arbeitman, Ph.D.
Richard Nowakowski, Ph.D.