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APS TYPE 1 FOUNDATION
Non-profit Organizations
STONY BROOK, New York 127 followers
We support education, awareness and fundraising for critical research in APS Type 1.
About us
We support education, awareness and fundraising for critical research in APS Type 1. APS Type 1 is a rare genetic disorder caused by mutations of the AIRE gene. Mutations in AIRE lead to multi-organ system autoimmunity typified by three classic manifestations: Autoimmune Hypoparathyroidism: a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body’s use of calcium and phosphorus. Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; fatigue; and even seizures. Adrenal Insufficiency (also known as Addison’s Disease): a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison’s Disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. If left untreated, adrenal crisis may occur leading to death. Chronic Mucocutaneous Candidiasis: a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with APS Type 1, these infections last a long time and tend to recur.
- Website
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http://apstype1.org
External link for APS TYPE 1 FOUNDATION
- Industry
- Non-profit Organizations
- Company size
- 2-10 employees
- Headquarters
- STONY BROOK, New York
- Type
- Nonprofit
- Founded
- 2014
- Specialties
- raredisease, APSType1, and wellness
Locations
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Primary
Get directions
PO BOX 404
STONY BROOK, New York 11790, US
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Get directions
Stony Brook Rd
Stony Brook, NY 11790, US
Updates
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Rare diseases most often emerge in childhood, yet getting a diagnosis can take up to nine years, and many children die by age 5. https://lnkd.in/gcJmMEpy
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FDA Approves YORVIPATH® (Palopegteriparatide) as the First and Only Treatment for Hypoparathyroidism in Adults https://lnkd.in/g8D2wfUD
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FDA Approves YORVIPATH® (Palopegteriparatide) as the First and Only Treatment for Hypoparathyroidism in Adults https://lnkd.in/g8D2wfUD
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Rare Artist Contest is now Open for Submissions https://lnkd.in/gXZd5edf zhttps://lnkd.in/gXZd5edf
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A new no-cost genetic testing option for HypoPARA https://lnkd.in/g8v9ta6U
Calcilytix | Genome Medical
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FDA Rare Disease Innovation Hub to Enhance and Advance Outcomes for Patients https://lnkd.in/egJKYwvs
FDA Rare Disease Innovation Hub to Advance Outcomes for Patients
fda.gov
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Progress in the quest to help progeria patients suggests that gene editing techniques may help treat other ultrarare conditions. https://lnkd.in/g3RZu4fZ
A Disease That Makes Children Age Rapidly Gets Closer to a Cure
https://www.nytimes.com
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Webinar: Understanding and Managing Pain https://lnkd.in/e7EkGs8d
Webinar: Understanding and Managing Pain - World Patients Alliance
https://www.worldpatientsalliance.org