Chédiak-Higashi syndrome

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Chédiak-Higashi syndrome

Synonyms: Chédiak-Higashi disease | Chédiak-Higashi-Steinbrink syndrome

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA see this term) severe immunodeficiency mild bleeding neurological dysfunction and lymphoproliferative disorder. A classic early-onset form and an attenuated later-onset form (Atypical CHS; see this term) have been described.

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Chédiak-Higashi syndrome?

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Advocacy Organizations

Malachi Holdings PVT LTd

We assist the patients with LSD ( Goucher/ Pompe/Fabri), channel Government consultant clinicians for treatment. currently Sri Lankan Government is struggling with health budgets to continue the ongoing treatments for the patients

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Histiocytosis Association

Phone: 856 589-6606 The Histiocytosis Association of America is dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research leading to better treatments and a cure. Outreach Initiatives These programs include educational brochures, networking directories, regional education meetings, newsletters, toll-free phone number, annual awareness campaign, online virtual community website, physician-linking network, and volunteer coalition. Fundraising Initiatives The goal of the Histiocytosis Association's Fundraising Program is to provide resources for the Association's research program, member support programs, administrative and fundraising costs through a cooperative effort of the Board of Trustees and Association staff with assistance from patients, families, physicians and friends of the Association. The HAA Community The Histiocytosis Association of America, a non-profit organization registered with the Federal Government, is dedicated to helping those dealing with the effects of rare histiocytic disorders by providing a variety of educational programs and emotional support services. There is no cost to become a member of the Histiocytosis Association of America. Membership is automatic at the time of initial contact and/or original request for information. Members are entered into the Association's database and coded according to his/her relationship with a histiocytosis patient. This coding system insures that members receive all pertinent and appropriate materials. Histiocytosis Association of America 332 North Broadway Pitman, New Jersey 08071 USA General Email: [email protected] Toll Free: 1 800-548-2758 In US and Canada only Phone: +1 856-589-6606 Fax: +1 856-589-6614 Jeffrey M. Toughill President Email: [email protected] Beth Anne Miller, MNM Chief Operating Officer Director of Development Email: [email protected] Charlotte Eastlack Finance Manager Email: [email protected] Jonna Dersch Web Development Manager Email: [email protected] ChristineToughill Special Events Manager Email: [email protected] Kathy Wisniewski Volunteer Program Manager Email: [email protected] Bryan Biello Fundraising Associate Email: [email protected] Gina Shim Administrative Assistant Email: [email protected] Katie Schopfer Community Outreach Associate Email: [email protected] c Suite 101 Pitman NJ 08071 8565896606 8565896614 8005482758 [email protected]

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to organ transplants or catastrophic injuries or illnesses. For 38 years, Help Hope Live has been showing clients and families how to bring together a network of relatives, friends, and neighbors in fundraising efforts to help cover the cost of uncovered medical expenses. These efforts play a critical role in helping our clients recover and maintain their health and independence. Since 1983, we have helped thousands of people raise millions of dollars for Help Hope Live to pay a wide range of expenses, including out-of-pocket costs for: medications, durable medical equipment, home health care, wheelchair-accessibility modifications, physical therapy, innovative treatments, medical travel and temporary relocation, even emergency living assistance. Our program has also helped thousands pay it forward and assist others with their medical expenses. Annually, we help place medical care within reach of about 5,000 families across the nation.

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

Inclusive Skating

TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.

Clinical Trials

For a list of clinical trials in this disease area, please click here.