Organizations, support groups, and online communities for the SETD5 Syndrome community.
A dedicated group of community members is actively working to establish a foundation focused on research, advocacy, and support for individuals and families affected by SETD5 Syndrome. More details to come.
A private Facebook community for families of individuals with SETD5 Syndrome. A space to connect, ask questions, and share experiences with others who understand.
Also from Simons Searchlight: Free Genetic Counseling for enrolled families · Family Navigation Guide (2023)
Simons Searchlight studies genes that cause rare neurodevelopmental disorders, including SETD5 Syndrome. The program is international and families can participate in several languages. Free to join, and families who complete research activities may receive compensation — check their website for current details. For an overview of all research registries open to SETD5 Syndrome families, see the Research Registries guide.
A leading US rare disease patient advocacy organization. Offers a rare disease database, caregiver support programs, and assistance navigating diagnoses.
Free information service from the NIH about rare and genetic diseases, with plain-language summaries and guidance for patients and families.
A nonprofit that connects, empowers, and inspires the rare disease community. Offers a patient registry, resources, and an annual advocacy conference.
A UK-based charity supporting families with rare chromosome and single gene disorders worldwide. Produces accessible condition guides and connects families. Also available: SETD5 Family Booklet (PDF, 2023) — a plain-language guide written specifically for SETD5 families.
An online health community where patients and caregivers connect across thousands of rare and chronic conditions.
An annual awareness day held on the last day of February. Families, patients, and advocates around the world share their stories to raise awareness and drive change. A meaningful opportunity to participate and help put SETD5 Syndrome on the map.
The authoritative entry for SETD5 Syndrome in the Online Mendelian Inheritance in Man database. Includes clinical features, molecular genetics, and a curated bibliography.
NIH's database of reported genetic variants in SETD5, including classifications — disease-causing (pathogenic), probably disease-causing (likely pathogenic), and uncertain significance (VUS) — and the labs that reported them.
A comprehensive summary of the SETD5 gene, including function, expression, associated diseases, and links to related research.
Search published research on SETD5 directly in PubMed, NCBI's database of biomedical literature.
A major advocacy organization for people with intellectual and developmental disabilities with chapters across the United States. See their website to locate a chapter near you.
Excellent plain-language guidance on IEPs, 504 plans, special education rights, and learning differences. Helpful for navigating school systems.
Federally funded centers in every state that help families understand special education rights, IEPs, and how to advocate for their child in school.
The federal law governing special education services. This site includes parent rights, evaluations, IEPs, and dispute resolution resources.
Information on SSI benefits for disabled children and adults from the Social Security Administration, including eligibility and how to apply.
Official information on Medicaid coverage, including waiver programs that can provide additional services for individuals with disabilities.