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105 ORGS · 220 ACTIVITIES · 1 STATES ← back to explorer ·
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Rare Genetic Disease Research and Advocacy

Advances scientific understanding, treatment development, and policy support for rare genetic disorders through research funding, patient registries, biobanking, and public awareness campaigns.

what makes this distinct This program type focuses specifically on rare genetic conditions, combining targeted scientific research (e.g., gene therapy, animal models, iPSC lines) with systemic advocacy and patient-centered infrastructure, distinguishing it from broader medical research or general disease support programs.

105
organizations
220
activities
0
nested groups
0
strategies
coverage NY 105
NTEE codes
G20H12G05
organizations

Organizations in this activity group · 105

showing 20 of 50
#OrganizationStateRevenueActivities
1ZTTK SON-SHINE FOUNDATION
ZTTK SON-SHINE FOUNDATION supports individuals with ZTTK syndrome, a rare genetic disorder. The organization funds research initiatives, including drug repurpo…
NY$524K9
2KIF1AORG INC
KIF1AORG INC is a global nonprofit dedicated to improving the lives of individuals affected by KIF1A-associated neurological disorder (KAND) and accelerating r…
NY$295K7
3THE BARTH SYNDROME FOUNDATION
The Barth Syndrome Foundation promotes awareness, supports research, and advocates for patients and families affected by Barth syndrome, a rare genetic disorde…
NY$1.9M7
4G6PD DEFICIENCY FOUNDATION
The G6PD Deficiency Foundation is a nonprofit organization dedicated to providing educational resources and support for individuals with G6PD deficiency, their…
NY$7K6
5RIAAN RESEARCH INITIATIVE INC
Riaan Research Initiative is a nonprofit organization dedicated to advancing treatments for Cockayne Syndrome, a rare and fatal genetic disorder. The organizat…
NY$616K6
6Tatton Brown Rahman Syndrome Community Inc
The Tatton Brown Rahman Syndrome (TBRS) Community supports families affected by the rare genetic disorder TBRS and advances research toward effective intervent…
NY$309K6
7YELLOW BRICK ROAD PROJECT INC
Nonprofit organization led by parents of patients, dedicated to advancing research, raising awareness, and connecting families affected by HNRNPH2 mutations. T…
NY$2K6
8Cri Du Chat Research Foundation Inc
The Cri Du Chat Research Foundation Inc is a nonprofit organization dedicated to advancing research and support for individuals affected by Cri du Chat Syndrom…
NY$135K5
9ELLYS TEAM INC
Ellys Team Inc is a foundation founded by parents of a child diagnosed with NEDAMSS, a rare neurodevelopmental disorder caused by mutations in the IRF2BPL gene…
NY$05
10HUNTERS CMT4B3 RESEARCH FOUNDATION INC
HUNTERS CMT4B3 RESEARCH FOUNDATION INC is a nonprofit dedicated to funding scientific research for Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), an ultra-rare…
NY$609K5
11THE MARFAN FOUNDATION INC
The Marfan Foundation provides education, support, and resources for individuals and families affected by Marfan syndrome, Loeys-Dietz syndrome, vascular Ehler…
NY$7.8M5
12GWW NLSDM CORP DBA GABBY'S WONDERFUL WORLD
Gabby's Wonderful World is a nonprofit organization dedicated to raising awareness about Neutral Lipid Storage Disease with Myopathy (NLSD-M), a rare genetic d…
NY$165K4
13LEO'S LIGHTHOUSE FOUNDATION INC
Leo's Lighthouse Foundation is a nonprofit dedicated to finding a cure for Bainbridge-Ropers Syndrome (BRS), a rare genetic disorder caused by ASXL3 gene mutat…
NY$04
14OVERCOMING MULTIPLE SCLEROSIS USA INC
Overcoming Multiple Sclerosis USA Inc is a nonprofit focused on providing evidence-based information about multiple sclerosis management, particularly the inte…
NY$6K4
15SALLA TREATMENT AND RESEARCH FOUNDATION INC
SALLA TREATMENT AND RESEARCH FOUNDATION INC supports research, education, and awareness for Salla disease and free sialic acid storage disorders (FSASD), a gro…
NY$289K4
16APS TYPE 1 FOUNDATION
The APS Type 1 Foundation supports individuals affected by Autoimmune Polyglandular Syndrome Type 1 (APS Type 1), a rare autoimmune disorder. The organization …
NY$126K3
17DIAMOND BLACKFAN ANEMIA FOUNDATION
The Diamond Blackfan Anemia Foundation supports patients and families affected by Diamond Blackfan Anemia Syndrome while advancing research toward better treat…
NY$499K3
18DYSAUTONOMIA FOUNDATION INC DBA FAMILIAL DYSAUTONOMIA FOUNDATION
The Familial Dysautonomia Foundation supports medical care, research, social services, and public education for people affected by or at risk for familial dysa…
NY$1.6M3
19FOXG1 Research Inc
FOXG1 Research Inc is a nonprofit organization based in Sands Point, NY, focused on advancing research and finding treatments for FOXG1 Syndrome, a rare geneti…
NY$6.9M3
20FRIENDS OF TELETHON FOUNDATION ITALY INC
FRIENDS OF TELETHON FOUNDATION ITALY INC, operating as Daybreak Children’s Rare Disease Fund, supports research into rare genetic diseases by raising awareness…
NY$9K3