Drug-Discovery Projects on Ultrarare Diseases

Drug-Discovery Projects on Ultrarare Diseases is sponsored by RTW Charitable Foundation. The RTW Charitable Foundation funds drug-discovery projects on diseases that affect fewer than 1000 people worldwide and for which no commercial drug-development program exists.

We provide expert,personalized guidance and operational Ultrarare diseases are often neglected by the pharmaceutical industry owing to the small number of patients who live with these conditions.

The Rare Disease 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.

University of Sydney and Lachie’s Wish 4 CS drives rare disease research, expands educational resources, and raises awareness of ultrarare diseases like Christianson Syndrome.

MEK2 Research Foundation, NBIA Alliance, AGO Alliance Poland, Persona Foundation (L1CAM), EIF3F Research Foundation, and Cure HSPB8 work together to advance patient support, medical research, and community resources for families affected by rare neurological and genetic conditions. v-ATPase Alliance provides coordination, advocacy, and raises funds for research and treatment of genetic v-ATPase rare diseases for patients and families.

## 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 February and August. Find out how your foundation could be eligible for these grants. Elly’s Team is a foundation established with a singular goal of translating medical research to treatment in record time.

Their 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! [](https://ellysteam.

org/) The vision of RARE Hope is to drive collaborative research efforts to find a cure for Annabel and for the other AHC patients around the world, to add new research on critical brain function that could help patients with other related neurological disorders, and to provide a model of patient advocacy for defeating other rare genetic diseases. [](https://www. rare-hope.

org/? fbclid=PAZXh0bgNhZW0CMTEAAacn46Jo9qBHFc2PJHHny8Y6gKT4LXWcTKohgnFT1SE_UYR47AXUxmh25EhCLw_aem_Y585FMyLMYJcTPd31c5SLw) ##### Malan Syndrome Foundation The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research.

They p rovide a broad network of support to families affected by Malan syndrome, help advance access to a diagnosis, p romote knowledge and awareness, e xplore research pathways to treatments and cures, as well as enhance understanding of Malan syndrome and related disorders. [](https://www. malansyndrome.

org/) Hope4Livi's goal is to connect families, raise funding for research and future treatment while spreading what little is known about Alternating hemiplegia of childhood (AHC), and to help families fighting this rare condition around the world. [](https://www. hope4livi.

com/) For Henry AHC's mission is to fund research to develop a treatment for Henry and others with AHC. Their current focus is funding research to design an antisense oligonucleotide (ASO) treatment targeting the mutation Henry and others with AHC have and to forge a path for ASOs to be developed for all others with AHC and similar rare generic neurological diseases. [](https://www.

forhenryahc. org/) ##### 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. [](https://sophieshopefoundation.

org/) 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. [](https://www. curears.

org/) 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. [](https://www. curelbsl.

org/) 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. [](https://slc6a1connect.

org/) 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. [](https://www.

dhpsfoundation. org/) ##### Styrke Foundation for Rare Disease Research and Treatment The Styrke Foundation’s mission is to create a world where children affected by rare genetic haematological diseases can live fulfilling lives without limitations.

They do this by funding initiatives and research projects which aim to accelerate the discovery of new platform-based lentiviral treatments, improve access to care, and empower patients and their families. [](https://www. myraregene.

org/) Cure OGT helps families connect and stand united to advance research and resources for OGT-XLID, creating a community of empowered individuals, researchers, and clinicians working together to improve the lives of those affected by OGT-XLID (O-GlcNAc Transferase X-Linked Intellectual Disability). The Tatton Brown Rahman Syndrome (TBRS) Community supports families affected by TBRS and advance research toward interventions.

TBRS Community creates a community for diagnosed individuals and their families to connect, and coordinate research on this newly identified, rare syndrome and identify treatments. [](https://tbrsyndrome. org/) ##### The CureMAPK8IP3 Foundation The CureMAPK8IP3 Foundation is a non-profit global community dedicated to improving the lives of patients and families affected by a _MAPK8IP3_ gene mutation.

The Foundation works to raise community awareness of MAPK8IP3-Related Neurodevelopmental Disorder, facilitate research related to MAPK8IP3-Related Neurodevelopmental Disorder, and connect and support those individuals and families affected by MAPK8IP3-Related Neurodevelopmental Disorder. [](https://curemapk8ip3.

org/) ##### Caprin 1 Foundation Caprin 1 Foundation is dedicated to improving the lives of individuals affected by CAPRIN1-related disorders through research, advocacy, and community support. The foundation works with leading scientists, clinicians, and advocacy organizations to advance understanding of CAPRIN1 disorders and improve the lives of those affected. [](https://caprin1foundation.

org/) PBD Project's mission is to research and fund innovative therapies, as well as treatment options, expert care, and information to families affected by this disease. We believe in the power of collaboration and communication and our goal is to establish a network of knowledge that will push research forward to find therapies for PBD patients. [](https://pbdproject.

org/) Shwachman-Diamond Syndrome (SDS) Alliance was established to enable therapy development for SDS is a rare disease that affects many parts of the body.

They provide bridge funding to top researchers between government grants to keep research going, partner with research institutions and companies to develop essential tools for therapy development and organize patients to participate in research and clinical trials to enable new therapy development. [](https://www. sdsalliance.

org/) Chelsea’s Hope is a family-led organization advancing treatment development for Lafora disease. Its primary focus is completing a 10-patient Safety Study—an essential step toward clinical progress—supported by a globally engaged patient community across the U.S., Europe, and South America. [](https://chelseashope.

org/)