11Q Research and Resource Group
Support, research and yearly conference to support those with any abnormalities of the 11th chromosome.
9pMinus/Alfi’s Syndrome: Chromosome 9pMinus Network
Resources for individuals with Monosomy 9p.
Aicardi Syndrome Foundation
Support, resources and registry for people with this rare neurological disorder.
American Autoimmune Related Diseases Association
Fosters and facilitates collaboration of patients, researchers, and doctors in the areas of education, public awareness, research, and patient services.
American Cleft Palate-Craniofacial Association (ACPA)
Resources for those with cleft lip and palate including Cleftline Bears (teddies with cleft stitches), educational materials, grants and scholarships.
Angelman Syndrome Foundation
Resources, research and info for those with AS.
Bohring-Opitz Syndrome/ASXL1
Dedicated to mapping those diagnosed with ASXL1 for research, resources, supports and developing best practices.
Bridge the Gap SYNGAP Education and Research Foundation
Parent-run organization raising awareness and searching out treatments for single gene mutations associated with SYNGAP1.
California Chronic Care Coalition (CCCC)
Resources and information on prevention and healthcare reform for those with chronic conditions and diseases.
Christie’s Place
HIV/AIDS support center provides comprehensive education, support and advocacy to women, children and families impacted by HIV/AIDS.
Chromosome 18 Registry and Research Society
Dedicated to research and information for all anomalies of Chromosome 18.
Chromosome Disorder Outreach
Raises awareness and provides resources for those with rare chromosome disorders.
Complex Child
Online source of information written by parents of medically complex children with special healthcare needs and disabilities.
Distal Trisomy 10q Families
Registry of individuals with Trisomy10q that helps provide data, support and resources.
Duplication Cares
Support and information for those affected by 7q11.23 Duplication.
DYRK1A Syndrome
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
Five P Minus Society
Provides valuable information, education and support for families, educators, and medical professionals about 5P Minus or Cris Du Chat Syndrome.
GeneCards
Integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes.
Genetics Home Reference (NIH)
Parent-friendly introduction to fundamental topics related to human genetics, including illustrations and explanations of genes, testing, therapy and research.
Global 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.
Helping Hands for GAND
Supports individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research
HypoPARAthyroidism Association, Inc.
Nonprofit patient organization working to improve lives touched by hypoparathyroidism through research, resources and education.
International Bipolar Foundation
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.
International Foundation for CDKL5 Research
Information, research and support on CDKL5.
International Rett Syndrome Foundation
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.
International Trisomy 13/18 Alliance
Information and support groups for those with Trisomy 13 or Trisomy 18.
Jeffrey Modell Foundation for Primary Immunodeficiency
Nonprofit patient organization providing a physician finder, resources, research and advocacy for people with immune issues.
KAT6A Foundation
Family group that registers families, supports research and disseminates information related to KAT6A.
KBG Foundation
Research, information and supports for children living with KBG and their families.
LGS Foundation
Parent and clinician organization that improves the lives of individuals affected by Lennox-Gastaut Syndrome through research, family support programs and education.
Little People of America (LPA)
Support and resources for those with Achondroplasia.
Mended Hearts
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.
Mowat-Wilson Syndrome Foundation
Patient registry, research, grants and family support for those with Mowat-Wilson Syndrome.
3131 Berger Ave.
www.mowat-wilson.org
www.mowat-wilson.org
Muscular Dystrophy Association
National organization dedicated to research and cure with resources for care, support and recreation.
National Organization for Rare Disorders (NORD)
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
Orange Socks
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.
Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS)
Research, information and family supports for kids with Smith-Magenis Syndrome.
Phelan-McDermid Syndrome (PMS) Foundation
Information, patient registry and support for people living with 22q13 Deletion Syndrome (PMS).
Pitt Hopkins Research Foundation
Resources, research and support for people with Pitt-Hopkins.
Potocki-Shaffer Syndrome
Information and support for those living with 11P 11.2 Deletion.
Prader-Willi Syndrome Association (PWSA) USA
Family support and medical resources for those with Prader-Willi Syndrome.
Public Health Grand Rounds (CDC)
Monthly series created to foster discussion and debate and increase awareness and advocacy on major public health issues.
PURA Syndrome Foundation
Information and support for children with a genetic anomaly of 5Q 31.3.
Rady Children’s Fetal Alcohol Spectrum Disorders Clinic
Clinic for diagnosis and treatment of Fetal Alcohol Syndrome within the Division of Genetics/Dysmorphology.
Reflex Sympathetic Dystrophy Syndrome Association (RSDSA)
Information, research and coping strategies for those with RSDSA/ CRPS.
Rett Syndrome and Related Disorders Communication Program -Milestone Pediatric Therapy
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.
San Diego Undiagnosed Family Support Group
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.
SATB2gene.com
Medical information and resources for people with SATB2 (Glass Syndrome).
Simons Searchlight
Online community that supports families with rare genetic variants associated with Autism and developmental delay. Provides access to resources, information and family support.
Sjögren’s Syndrome Foundation
Information on diagnosis, treatment, support and clinical research on Sjogren’s Syndrome
Stickler Involved People (SIP)
Support group and resource page for those with Stickler Syndrome.
STXBP1 Disorders
Parent organization that provides funds for research and supports scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy.
The Association for X and Y Chromosome Variations (AXYS)
Dedicated to providing information, connection and support to individuals with one or more extra X or Y chromosomes.
The Magic Foundation
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
Tracking Rare Incidence Syndromes (TRIS) Project
Seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and medical professionals.
Turner Syndrome Society
Provides resources, support and clinical care guidelines for those with Turner Syndrome.
Williams Syndrome Association
Online patient registry, resources, parent roadmap and clinic registry.