Science leading

We invest in projects aimed at curing ultrarare diseases

Core to the Foundation’s mission, we support research with a special focus on projects that have the clearest chance of reaching patients. We do this via two mechanisms: through our research grants and through the RTWCF Research Institute.

Science supporting people with rare diseases

We provide research grants to scientists and academics needing funding to continue their work. However, we aim to be far more than just funders of this work. We view our role as partners.

We visit leading academic institutions where cutting edge rare disease research is conducted. We source the research projects that are focused on direct impact to patients and have a focus on therapeutics. Then with our deep scientific and drug discovery expertise, we collaborate with these scientists to write a research grant proposal that will drive this science forward.

We’re collaborators, thought leaders, scientists, and drug hunters.

Research Grants

We fund academic projects with a particular interest in monogenetic diseases that affect fewer than 300 people worldwide

Our projects

Research Institute

Through our Research Institute we make financial, experimental, and intellectual contributions to advance the science we fund

Learn more

Featured projects

The NYU Pediatrics Undiagnosed Diseases Program

The NYU Pediatrics Undiagnosed Diseases Program 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 middle-income 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.

Annual Report 2021

2021 was an important year for our team. Take a closer look at what we accomplished alongside our humanitarian and research partners in our first Annual Report.