11Q Research and Resource Group
Support, research and yearly conference to support those with any abnormalities of the 11th chromosome.
Support, research and yearly conference to support those with any abnormalities of the 11th chromosome.
Resources for individuals with Monosomy 9p.
Research and resources for those with ADCY5-related dyskinesia including free genetic testing through the PTC Pinpoint CP Spectrum Genetic Testing Program.
Support, resources and registry for people with this rare neurological disorder.
Resources for those with cleft lip and palate including Cleftline Bears (teddies with cleft stitches), educational materials, grants and scholarships.
Resources, research and info for those with AS.
Fosters and facilitates collaboration of patients, researchers, and doctors in the areas of education, public awareness, research, and patient services.
Dedicated to mapping those diagnosed with ASXL1 for research, resources, supports and developing best practices.
Parent-run organization raising awareness and searching out treatments for single gene mutations associated with SYNGAP1.
Provides community education to prevent burn injury and programs and support to those affected by burn trauma.
Resources and information on prevention and healthcare reform for those with chronic conditions and diseases.
HIV/AIDS support center provides comprehensive education, support and advocacy to women, children and families impacted by HIV/AIDS.
Dedicated to research and information for all anomalies of Chromosome 18.
Raises awareness and provides resources for those with rare chromosome disorders.
Online source of information written by parents of medically complex children with special healthcare needs and disabilities.
Registry of individuals with Trisomy10q that helps provide data, support and resources.
Support and information for those affected by 7q11.23 Duplication.
Nonprofit organization created to provide parent-to-parent support services for families of children afflicted with a variety of chronic and critical disorders, syndromes and diseases that affect a
Provides valuable information, education and support for families, educators, and medical professionals about 5P Minus or Cris Du Chat Syndrome.
Integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes.
The leading rare and genetic disease patient advocacy nonprofit organization. Centered on increasing rare disease awareness, public and physician education, and supporting research initiatives to find treatments and cures.
Nonprofit that brings together professionals and families for research and support.
Supports individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research
Nonprofit patient organization working to improve lives touched by hypoparathyroidism through research, resources and education.
Advances research toward the elimination of Bipolar Disorder, provides and enhances care, resources and support services and works to erase the stigma associated with mental illness through education.
Information, research and support on CDKL5.
Funds research for treatments and a cure for Rett Syndrome while enhancing the overall quality of life for those living with it by providing information, programs and services.
Information and support groups for those with Trisomy 13 or Trisomy 18.
Provides research funds and information for patients, family members, physicians and biomedical scientists working together to support treatment for IRF2BPL-related disorders.
Nonprofit patient organization providing a physician finder, resources, research and advocacy for people with immune issues.
Family group that registers families, supports research and disseminates information related to KAT6A.
Research, information and supports for children living with KBG and their families.
Parent and clinician organization that improves the lives of individuals affected by Lennox-Gastaut Syndrome through research, family support programs and education.
Support and resources for those with Achondroplasia.
Parent-friendly introduction to fundamental topics related to human genetics, including illustrations and explanations of genes, testing, therapy and research.
Support group for people with or recovering from heart disease moderated by professionals and volunteer heart patients to talk about the path of diagnosis, treatment and recovery.
Patient registry, research, grants and family support for those with Mowat-Wilson Syndrome.
National organization dedicated to research and cure with resources for care, support and recreation.
Federation of voluntary health organizations dedicated to helping people with rare diseases and assisting the organizations that serve them. Committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research
Nonprofit that provides parents searching for a diagnosis (or parents with newly diagnosed children) with links to national organizations. Also connects expectant parents who have in-utero diagnoses with a parent who has a child with the same or similar diagnosis.
Research, information and family supports for kids with Smith-Magenis Syndrome.
Information, patient registry and support for people living with 22q13 Deletion Syndrome (PMS).
Resources, research and support for people with Pitt-Hopkins.
Information and support for those living with 11P 11.2 Deletion.
Family support and medical resources for those with Prader-Willi Syndrome.
Monthly series created to foster discussion and debate and increase awareness and advocacy on major public health issues.
Information and support for children with a genetic anomaly of 5Q 31.3.
Information, research and coping strategies for those with RSDSA/ CRPS.
Monthly group offers children and teens who communicate using AAC systems the chance to practice language and social communication within fun, cooperative activities. Participants need not be receiving therapy from Milestone Pediatric. First lesson free to ensure compatibility.
Quarterly meetings with interesting speakers and Facebook support group for parents of children with special needs who do not know the etiology of their child’s condition or illness. Fun activities for children are available while the parents meet.
Medical information and resources for people with SATB2 (Glass Syndrome).
Online community that supports families with rare genetic variants associated with Autism and developmental delay. Provides access to resources, information and family support.
Information on diagnosis, treatment, support and clinical research on Sjogren’s Syndrome.
Support group and resource page for those with Stickler Syndrome.
Parent organization that provides funds for research and supports scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy.
Dedicated to providing information, connection and support to individuals with one or more extra X or Y chromosomes.
Nonprofit organization created to provide parent-to-parent support services for families of children afflicted with a variety of chronic and critical disorders, syndromes and diseases that affect a
Seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and medical professionals.
Provides resources, support and clinical care guidelines for those with Turner Syndrome.
Online patient registry, resources, parent roadmap and clinic registry.