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

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.