Our projects

Our research grants provide up to $150,000 of funding to conduct early-stage research in ultrarare cases

Impact being made through providing grants to partners

Through data-driven science, partnership collaboration, and meaningful impact, we seek to fund research that helps develop pathways for therapies for ultrarare diseases.

The NYU Pediatrics Undiagnosed Diseases Program

The NYU Pediatrics Undiagnosed Diseases ProgramĀ applies novel genomics technologies to the care of children with rare diseases.

Many of the patients they serve are from low-income or immigrant families, which do not typically have access to basic genetic testing. Funding from RTWCF supported the program, led by Dr. Gilad Evrony, to offer families advanced genomic testing methods, including long-read sequencing, optical genome mapping, and RNA-sequencing.

The Global Diagnosis Network: Diversity Rare Undiagnosed Diseases Program

Led by Alan Shuldiner, MD at the Global Genomic Medicine Collaborative and Toni Pollin, MS, PhD, CGC at the University of Maryland School of Medicine, is a pilot program aimed at providing families in low- and middleincome countries with access to diagnostic testing for rare diseases.

Starting in Mexico, Malaysia, Sri Lanka, South Africa, Chile, and Nepal, RTWCF support is making it possible to provide clinics with the staff and equipment needed for exome sequencing, diagnostic testing, and genetic counseling.

Murdoch Children’s Research Institute

(Nicole Van Bergen, PhD): Study of disease-causing mutations in TRAPPC4

University of Utah

(Rajeshwary Ghosh, PhD): New therapeutic strategy for Desmin-related myopathy

University of Pennsylvania

(David Fajgenbaum, MD, MBA, MSc): Understanding Idiopathic Multicentric Castelman Syndrome

University of Utah

(Stephen Pulst, MD): Gene therapy for Christianson syndrome

University of California Los Angeles

(Bianca Russell, MD): Natural-history study of Bohring–Opitz Syndrome

Brown University

(Eric Morrow, MD, PhD): Translational research and natural history of Christianson syndrome

NYU Grossman School of Medicine

(Gilad Evrony, MD, PhD): NYU Pediatric Undiagnosed Diseases Program

Global Genomic Medicine Collaborative

(Alan Shuldiner, MD & Toni Pollin, MS, PhD, CGC): Diagnosis of rare diseases in underserved populations

St. John Eye Hospital

(David Verity, MD, MA & Human Rishmawi, MD): Procurement of equipment to screen for retinopathy of prematurity

Stanford University & National Institutes of Health

(Allison Okamura, PhD & Carsten Bönnemann, MD): Development of sensory prosthesis for people with PIEZO2 mutations