Organizations and Foundations
Below are organizations and foundations that have been helpful, informational, and relevant to the rare disease community and our own journey towards learning and treatment.
EveryONE Medicines delivers individualized precision therapeutics, customized to the unique pathogenic genetic mutation of patients.
Our mission is to apply the efficiency, versatility and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat patients with nano-rare diseases.
TGen, the Translational Genomics Research Institute, part of City of Hope, is an Arizona-based, nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. We work to unravel the genetic components of common and complex diseases, including cancer, neurological disorders, infectious disease, and rare childhood disorders. By identifying treatment options in this manner, we believe medicine becomes more rational, more precise and, well, more personal.
National Organization for Rare Diseases NORD
NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives. Every day, we elevate care, advance research, and drive policy in a purposeful and holistic manner to lift up the rare disease community.
The Jackson Laboratory: Rare Disease Translational Center
Our team serves those with rare disease by accelerating the pre-clinical phase. Our vision is to provide patients with an efficient path from diagnosis to therapy, allowing them to live longer, healthier lives.
The EveryLife Foundation for Rare Diseases
A nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
An advocacy organization dedicated to connecting the rare disease community. It empowers patients, builds communities while seeking to eliminate the challenges experienced by people with rare diseases.
National Center for Advancing Translational Sciences (NCATS)
This organization provides a collection of resources, Rare Diseases Resources, on topics of interest to the rare disease community. Included is information on rare disease social networks, online medical reference websites and rare disease events. NCATS is part of the National Institutes of Health (NIH).
Europe-based Resources
SKIP Therapeutics develops RNA-based therapies for rare genetic disorders and common diseases.
Nucleic Acid Therapy Accelerator (NATA) initiative
UK-based. They evaluate new technologies to improve the delivery and safety of nucleic acid therapies, work collaboratively with partners to co-develop value and intellectual property rights, advancing therapeutic targets from validation and lead identification to pre-clinical data generation. They aim to develop novel therapeutics, from broadly applicable disease modifying pathways to personalised medicines tailored to individual patients.
A pilot program for individualized medicines in the UK
A group of internationally acclaimed doctors, researchers, patients and companies from across the globe who are committed to expanding the field of individualized medicine.
Online Community
Follow Hope for SPTAN1 on Instagram: @hopeforsptan1
Join the SPTAN1 Facebook group.
This is a private group for those who have a family member with SPTAN1 or for adults living with an SPTAN1 mutation.
Follow Hope for SPTAN1 on Facebook
Family Support
Care 4 the Caregivers was created for caregivers, by caregivers who often feel isolated and overwhelmed. We connect like-minded individuals by providing them full access to all of our resources. They offer an informational space, an empowering environment, and programs and services that help families thrive.
Courageous Parents Network is a non-profit organization and educational platform that orients, empowers and accompanies families and providers caring for children with serious illness.
Offers numerous supports to all families, including peer to peer support and many workshops.
Services for children with disabilities by state.
American Association of Intellectual and Developmental Disabilities
HopeKids provides ongoing events, activities, and a powerful, unique support community for families who have a child with cancer or some other life-threatening medical condition. We surround these remarkable children and their families with the message that hope is a powerful medicine.