Rare Disease

We support scientific initiatives to aid in the development of genetic medicines for neglected rare diseases

Ultrarare diseases are often neglected by the pharmaceutical industry owing to the small number of patients who live with these conditions. The Research arm of the RTW Foundation contributes to addressing this problem in two ways: by providing advisory services to disease foundations interested in developing therapies for their patients, and by funding drug-discovery projects on ultrarare diseases.

Advisory services to disease foundations

We put our operational capabilities and our drug-discovery expertise to the service of the ultrarare disease community. Whether you have just created a new disease foundation or are already developing a therapeutic asset, we would be happy to provide our unbiased, expert opinion on the best path forward for your project. Get in touch for more information.

Funding for drug-discovery projects on ultrarare diseases

Our current funding priority focuses on drug-discovery projects on diseases that affect fewer than 1000 people worldwide and for which no commercial drug-development program exists. RTW Foundation aims to fund proposals co-developed by rare disease foundations and the Rare Disease Advisors that meaningfully accelerate research in a rare disease. Grant cycles take place in January, May, and September. We offer 3 types of grants for rare disease foundations. Find out how your foundation could be eligible for these grants.

Research & Scientific Advisory Stats

83

research proposals received and reviewed 2021-2024

25

funded research grants 2021-2024

$4,250,000

distributed towards research grants 2021-2024

5

therapeutic modalities funded: (1) Small molecule, (2) ASO, (3) Cell Therapy, (4) Gene Therapy, (5) Other

67+

scientific advisory meetings in 2024

14

rare disease groups engaged in advisory services in 2024 so far

Foundations

Elly's Team

Elly’s Team is a foundation established with a singular goal of translating medical research to treatment in record time. Our path to treatment involves funding additional research to understand the disease mechanism and effects on the body, developing and manufacturing drugs, navigating the FDA approval process and clinical trials, and treating children!

Sophie's Hope Foundation

Sophie’s Hope Foundation’s mission is to cure GSD1b. The foundation was started by Jamas and Margot LaFreniere after their daughter, Sophie, was diagnosed in September of 2019 at the age of 2 with Glycogen Storage Disease Type 1b (GSD1b). GSD1b is an ultra-rare genetic disease that has no FDA approved treatments and is life threatening. The foundation is based in Hopkinton, MA and is a fully registered 501c3 charitable organization. 

Cure ARS

Cure Ars's Mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare Mitochondrial Aminoacyl t-RNA Synthetase (mtARS) genes in order to pave the way to suitable treatment options and ultimately a cure.

Cure LBSL

What began as a journey to find a cure for one child has grown into a mission of hope for families across the globe. At age three-and-a-half a girl named Ellie McGinn was diagnosed with LBSL, a progressive and very rare genetic disorder affecting the brain and spinal cord; most often developing in children, impacting their ability to walk, then stand and eventually coordinate fine and gross motor skills. Cure LBSL's mission is to find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.

SLC6A1 Connect

SLC6A1 Connect is a patient organization that was formed out of necessity. Their goal is to not exist in 5 years because a cure is in place. By that time, they will have moved on to curing the next rare disease. SLC6A1’s research mindset was formed with that philosophy in mind. They are in search of novel IP solutions to advance research quickly for our inpatient patient group.

DHPS Foundation

DHPS Foundation's mission is to help identify and assist individuals with rare genetic disorders, and to work with interested researchers to develop treatment options and cures for those disorders. Their initial focus is on increasing awareness and understanding of patients with DHPS deficiencies and evaluating potential treatments to address those deficiencies.