Rare Disease Advising

Elly's Team

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!

RARE Hope

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.

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 provide a broad network of support to families affected by Malan syndrome, help advance access to a diagnosis, promote knowledge and awareness, explore research pathways to treatments and cures, as well as enhance understanding of Malan syndrome and related disorders.

Hope4Livi

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.

For Henry AHC

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.

Finding Hope for Frizzle (FRRS1L)

Finding Hope for Frizzle (FRRS1L) is a nonprofit parent-led organization dedicated to reducing the suffering and struggle of individuals affected by Frizzle (FRRS1L) genetic disease, by developing Frizzle gene replacement therapy. Our work is guided by community, treatment development, and awareness.

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 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.

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.

The MYT1L Project

The MYT1L Project fosters collaboration between families, patients, and researchers to develop effective treatments that improve the quality of life for individuals and their families. In addition to promoting and funding critical research, they support families through regular virtual meetups, active social media forums, and an annual in-person scientific and family conference that shares the latest research and discoveries.

Cure OGT

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).

TBRS Community

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.

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.

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.

PBD Project

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.

SDS Alliance

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.

Chelsea's Hope

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.

The DAND Alliance

The DAND Alliance is a nonprofit committed to advancing awareness, understanding, and treatment of DEAF1-Associated Neurodevelopmental Disorders (DAND): the Vulto-van Silfhout-de Vries Syndrome (VSVS) and NEDHELS Syndrome. Through community engagement, scientific research, and collaborative partnerships, The DAND Alliance aims to improve the quality of life for affected individuals and their families.

CHAMP1 Research Foundation

CHAMP1 Research Foundation welcomes and supports new families as we work together to pave the way for a better future. They are creating a path for children with CHAMP1 disorders to receive treatment through research and our community working together.

Lenny's Cure for Condsias

Lenny's Cure for Condsias is dedicated to patients, families and caregivers living with the ultra-rare neurodegenerative disorder CONDSIAS. They are here to foster connection, build awareness, advance research and find a cure for CONDSIAS.

TESS Research Foundation

TESS Research Foundation was founded to improve the lives of those affected by SLC13A5 Epilepsy. TESS funds cutting-edge research, provides support to people affected by SLC13A5 Epilepsy, and increases awareness about this severe neurological disorder.

Miracles for Mighty Milo

Miracles for Mighty Milo's mission is to spread awareness about Spastic Ataxia Type 5 (SPAX5), an ultra-rare progressive mitochondrial disease. The foundation actively raises money to develop life-saving treatments, including a custom AAV gene therapy, to cure the disease and help Milo and other children.

Birdie's Flight for a KDM5C Cure

Birdie's Flight's mission is to fund the research and development of a treatment for Birdie and others with KDM5C. Our primary focus and goal is to design an antisense oligonucleotide (ASO) designed to mitigate the effects of Birdie's KDM5C mutation.

ReGENErate Hope

ReGENErate Hope was founded to create a path to treatment for all children with HIBCH Deficiency who face this prognosis. Because this disease is so rare, no commercial program currently exists. Through ReGENErate Hope, they are building the partnerships, funding, and research infrastructure needed to move from diagnosis to therapy.