The CACNA1A Foundation is now part of CombinedBrain, ensuring more visibility for our disease.
The CACNA1A Foundation is honored to announce that we have been accepted as a member of COMBINEDbrain, a non-profit consortium of 25 patient-advocacy foundations, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain is devoted to speeding the path to clinical trial readiness for rare neurodevelopmental disorders by pooling efforts, studies and data.
The value of being a part of this organization is immeasurable. Each of the member groups is doing just what we are trying to do – accelerate the development of new treatments - and we are stronger together. By grouping disorders that have similar symptoms together, providing opportunities for collaboration and the sharing of resources, CombinedBrain seeks to accelerate access to cures and therapies. This de-risks therapeutic development, making it easier for companies to invest in our diseases. We can now easily share ideas, connections, and strategies with other rare disease organizations, are better able to raise awareness of CACNA1A-related disorders, and are provided the opportunity to engage with more companies to help us achieve our goal of finding targeted treatments for our community.
COMBINEDBrain was founded by Dr. Terry Jo Bichell in January 2020. Dr. Bichell entered the rare disease world after her son was diagnosed with Angelman Syndrome, earning a Ph.D. in neuroscience from Vanderbilt University at age 56, so she could work on finding a cure.
Member groups include (in alphabetical order):
CACNA1A Foundation is represented by Lisa Manaster, President and Co-Founder. Their mission is to increase awareness of CACNA1A variants, support individuals and families affected by CACNA1A, and raise funds to support research and treatment options to find a cure for CACNA1A.
CHAMP1 Research Foundation is represented by Jeff D'Angelo, Founder, Research Committee Chair. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.
CureGPX4 is represented by Sanath Kumar Ramesh, Founder. The organization’s mission is to create treatments for Spondylometaphyseal Dysplasia Sedaghatian type (SSMD).
CureGRIN is represented by Keith McArthur, CEO and Head of Science. Their mission is to improve the lives of people living with GRIN Disorder. The foundation is founded and run by parents that are committed to improving the lives of people with GRIN disorder.
CureSHANK is represented by Geraldine Bliss, Founder and President. Their mission is to accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders. Their approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.
FamilieSCN2A Foundation is represented by Leah Schust Myers, Executive Director. Their vision is to find effective treatments and a cure for SCN2A related disorders. Their mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. FamilieSCN2A Foundation was created by parents of children suffering from SCN2A related disorders who work unwaveringly to support both families and research.
Foundation for USP7 Related Diseases is represented by Bo Bigelow, Chairman/Co-Founder. Their mission is to cure Hao-Fountain Syndrome (previously known as USP7-related diseases). They do this by funding research and identifying more patients. In funding research, they seek to (1) uncover methods of activating USP7 to rescue this haploinsufficient phenotype; and (2) understand how alterations in the proper functioning of endosomal protein recycling cause seizures and other neurological problems.
FOXG1 Research Foundation is represented by Nasha Fitter, CEO, Head of Research. The mission of the FOXG1 Research Foundation to accelerate research to find a cure for FOXG1 syndrome. They are dedicated to funding the world's leading scientists that are integral along the Path to a Cure for all children with FOXG1 syndrome.
Glut1 Deficiency Foundation is represented by Glenna Steele, Executive Director. The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research. They are working hard to bring help and hope to the Glut1 Deficiency community.
GRIN2B Foundation is represented by Liz Marfia Ash, President & Founder. GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis. Though GRIN2B Foundation was the first GRIN2B-related organization formed, they are very proud to work in collaboration with many other GRIN2B and GRIN Disorder organizations that have since formed worldwide.
KIF1A.ORG is represented by Kathryn Atchely, President. KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. Their relentless community of families, researchers, clinicians, innovators, and supporters are determined to bring treatment to this generation of people affected by KAND.
Malan Syndrome Foundation is represented by Dr. Christal Delagrammatikas. 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. The Malan Syndrome Foundation is a volunteer, parent-led organization.
NR2F1 Foundation is represented by Carlie Monnier, Board President. The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 mutations through education, awareness and research. As a result of joining forces with other foundations, they aim to be leaders in patient empowerment and patient-led research for the rare disease community at large ultimately serving as a model to other organizations.
PBD Project is represented by Andrew Longenecker, Founder. The mission of the PBD Project is to fund medical research with the objective to provide a meaningful and positive clinical impact for patients with Peroxisome Biogenesis Disorders (PBD), with a focus on Zellweger Spectrum Disorder (ZSD) caused by mutations to the PEX10 gene.
Project 8p Foundation is led by Bina Maniar Shah, President & Founder. Project 8p Foundation is a 501(c)(3) nonprofit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. Chromosome 8p is not just a rare genetic disease, but the many genes and pathways can be clues to common brain-related diseases.
Project Alive is represented by Kim Stephens, DBA, President Their mission is to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators.
SATB2 Gene Foundation is represented by Allison Kaczenski, President & Founder. The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education.
Schinzel-Giedion Syndrome Foundation (SGS) is represented by Nuala Summerfield, Founder and Chair. The organization’s mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help find better treatments to improve the quality and length of life of children living with SGS. The Schinzel-Giedion Syndrome Foundation is the only patient organization for SGS and represents the international SGS community.
SETBP1 Society is represented by Haley Oyler, President. Their mission is to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public. SETBP1 Society is an internationally focused volunteer 501(c)(3) organization based in the US with a focus to identify targeted treatments to help individuals impacted by SETBP1 disorder.
SLC6A1 Connect is represented by Amber Freed, CEO & Co-Founder. The mission of SLC6A1 Connect is to cure every person with SLC6A1.
STXBP1 Foundation is represented by Charlene Son Rigby, President. The STXBP1 Foundation's mission is to raise awareness of STXBP1 disorders and to accelerate the development of therapies and hopefully a cure for their patients.
SynGAP Research Fund (SRF) is represented by Mike Graglia, Managing Director & co-founder. SRF’s mission is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide. SRF is entirely parent-led and has committed over $1.2M to research since it was created. 100% of donations go directly to support research.
Yellow Brick Road Project (HNRNPH2) is represented by Trish Flanagan, President. The YBRP connects families and drives research forward on HNRNPH2 mutations to improve these rare patients' lives. This small but feisty organization is laser-focused on getting to clinical trials, treatments, and a cure for the rare X-linked HNRNPH2 related neurodevelopmental disorder.