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Rare Diseases

Genetic and Rare Diseases Information Center

The National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research(ORDR), created the Genetic and Rare Diseases Information Center to help people find useful information, in English or Spanish, about genetic and rare diseases. You can speak with an information specialist Monday through Friday from 12 p.m. to 6 p.m. Eastern time. You can write to GARD anytime via e-mail, letter, or fax. Bilingual information specialists are available to respond to inquiries in Spanish. All information requests are completely confidential.

Review Date: July 13, 2011

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National Hansen's Disease (Leprosy) Program

The National Hansen's Disease Program is the epicenter of Hansen's disease (leprosy) care, research and information in the U.S. It cares for patients at its facility at the Ochsner Medical Center in Baton Rouge, oversees an ambulatory care network with 11 clinics in seven states and Puerto Rico,advances treatment and educates medical professionals about Hansen's disease, and conducts intramural Hansen's disease (leprosy) biomedical research.

Review Date: May 22, 2014

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NIH Office of Rare Diseases Research

The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), the Federal focal point for biomedical research. ORDR coordinates and supports rare diseases research, responds to research opportunities for rare diseases, and provides information on rare diseases. Public Law 107-280, the Rare Diseases Act of 2002, established the ORDR by statute. The goals of ORDR are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients who have any one of the more than 7,000 rare diseases known today.

Review Date: August 04, 2011

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Office of Orphan Products Development, U.S. Food and Drug Administration

The FDA's Office of Orphan Products Development (OOPD) is dedicated to promoting the development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions. To locate such products, the OOPD interacts with the medical and research communities, professional organizations, academia, and the pharmaceutical industry, as well as rare disease groups. The OOPD administers the major provisions of the Orphan Drug Act (ODA) which provide incentives for sponsors to develop products for rare diseases. More than 228 drugs and biological products for rare diseases have been brought to market since 1983.

Review Date: August 16, 2011

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American Syringomyelia & Chiari Alliance Project, Inc.

The American Syringomyelia Alliance Project Inc. (ASAP), is a national nonprofit organization founded in 1988. Its main goals are to be a support network and information clearinghouse for people who have syringomyelia, a rare spinal cord disorder, a source of information and support for Chiari Malformations, and to support future research. ASAP is also working towards coordinating the efforts of organizations in the U.S. working to improve the lives of those challenged by Syringomyelia or Chiari Malformations; increase public awareness of the existence of the disorders and the associated devastation; secure a uniform, national Medicare policy providing coverage for current and future treatments of the disorders; inform sufferers of the latest efforts of doctors who are treating the disorders; and urge research efforts to find all causes, to develop new treatments, and to improve existing treatments.

Review Date: January 05, 2009

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Amyloidosis Foundation, Inc.

The Amyloidosis Foundation is a non-profit organization that is the result of the merge in 2007 of the Amyloidosis Research Foundation and the Amyloidosis Support Network. With the merge of these two organizations, the missions of both are brought together. The Amyloidosis Foundation continues to support research through the grant program, work towards raising awareness of the disease and helping patients and their families. The mission of the foundation is to increase education and awareness of amyloidosis within the community leading to earlier diagnosis and improved treatment.

Review Date: March 09, 2011

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Amyloidosis Support Groups

Amyloidosis Support Groups is a 501(c)3 Non Profit Corporation, dedicated to the support of amyloidosis patients, caregivers, and former caregivers. Their goals are to set up and help maintain peer support group meetings, and by raising funds through donations, help the groups to be self sustaining. ASG also maintains an online support listserv (www.amyloidosisonline.com) for over 1500 patients and caregivers, and an online support group for the hereditary and TTR form of amyloidosis (www.familialonline.com).

Review Date: February 26, 2013

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Angelman Syndrome Foundation

The Angelman Syndrome Foundation is a national 501(c)(3) organization of families, caregivers and medical professionals who care about those with Angelman Syndrome. The foundation’s mission is to advance the awareness and treatment of Angelman Syndrome through education and information, research, advocacy and support for individuals with Angelman Syndrome, their families, and other concerned parties.

Review Date: November 09, 2011

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Angioma Alliance

Angioma Alliance is a non-profit international patient advocacy organization created by people affected by cavernous angioma (cerebral cavernous malformation). The organization works to inform and support individuals affected by CCM while facilitating improved diagnosis and management of the illness through education and research.

Review Date: May 15, 2009

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APS Foundation of America, Inc.

APS is an abbreviation for Antiphospholipid Antibody Syndrome. APS is also called APLS or APLA in the United States and Hughes Syndrome or Sticky Blood in the UK. APS is associated with recurrent clotting events (thrombosis) including premature stroke, repeated miscarriages, phlebitis, venous thrombosis (clot in the vein) and pulmonary thromboembolism (blockage of an artery found in the lung due to a clot that has traveled from a vein). It is also associated with low platelet or blood elements that prevent bleeding. Recently, however, even more disease states have been linked with APL including premature heart attack, migraine headaches, various cardiac valvular abnormalities, skin lesions, abnormal movement/chorea, diseases that mimic multiple sclerosis, vascular diseases of the eye that can lead to visual loss and blindness. Founded in 2005, the APS Foundation of America, Inc. is the leading United States nonprofit health agency dedicated to bringing national awareness to Antiphospholipid Antibody Syndrome (APS), the major cause of multiple miscarriages, thrombosis, young strokes and heart attacks. We are a volunteer run, community based 501(c)3 non-profit Public Charity organization and is dedicated to fostering and facilitating joint efforts in the areas of education, support, public awareness, research and patient services.

Review Date: November 10, 2011

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A-T Children's Project

The A-T Children's Project was established to raise funds to support and coordinate biomedical research projects, scientific conferences and a clinical center aimed at finding a cure for ataxia-telangiectasia, a lethal genetic disease that attacks children, causing progressive loss of muscle control, cancer and immune system problems. A-T Children's Project is a national, non-profit group that responds to inquiries from any individual interested in learning about ataxia-telangiectasia. (Se habla español)

Review Date: December 12, 2008

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Batten Disease Support and Research Association

The Batten Disease Support and Research Association (BDSRA) was formed by a group of families in the U.S. and Canada with a mission to offer emotional support, provide information and referrals, and to educate others about Batten Disease. The Association assists with the National Batten Disease Registry which is maintained at the New York State Institute for Basic Research in Developmental Disabilities. BDSRA maintains a library of information on the disease; Helping Hands Information Sheets on topics such as seizure care, tube feedings and medications. Books on grief and coping with an ill child, and informational videocassettes are available on loan. Information on medical care, financial assistance, and funding/grants is available through the Association. Services are available at all levels of participation for a membership fee.

Review Date: January 09, 2009

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Cicatricial Alopecia Research Foundation

The Cicatricial Alopecia Research Foundation (CARF) is a 501(c)(3) tax-exempt not-for-profit organization formed in 2001 as a result of one person's experience with scarring alopecia (cicatricial means scarring). When the patient realized that little is known about such disorders, she decided, with the help of her doctor, to initiate a grassroots effort to raise funds for research to find effective treatments and a cure, to support education and advocacy, and to raise public awareness of these rare diseases. CARF funds are available to support research that will enhance our knowledge about this difficult group of diseases.

Review Date: September 09, 2010

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Cushing's Support and Research Foundation

The Cushing's Support and Research Foundation was established in 1995 to provide information and support to Cushing's patients and their families. The Foundation was incorporated in the state of Massachusetts as a non-profit organization and is an Associate Member of NORD, the National Organization for Rare Disorders. The CSRF has a Medical Advisory Board consisting of very experienced surgeons and endocrinologists who are world renowned for their expertise on Cushing's. The CSRF is primarily funded by membership and personal donations. The CSRF maintains a database of many present and past Cushing's patients willing to support others.

Review Date: February 14, 2013

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Cystinosis Research Foundation

The mission of the Cystinosis Research Foundation is to support bench and clinical research that is focused on developing improved treatments and a cure for Cystinosis. The Cystinosis Research Foundation is dedicated to educating the medical and public communities about Cystinosis to ensure early diagnosis and proper treatment. Since 2003, the foundation has raised more than $20 million for 103 studies and fellowships in 11 countries making the Cystinosis Research Foundation the largest source of grants for Cystinosis research in the world.

Review Date: February 14, 2013

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Dysautonomia Foundation

The Dysautonomia Foundation is an international organization created in 1951, to provide services for patients with Familial Dysautonomia, a Jewish genetic disorder. We support a Treatment and Evaluation Center at NYU Medical Hospital in NYC as well as a satellite center at Hadassah Hospital - Israel. The Foundation funds research into FD leading to a cure. It also offers support services to families including information on Treatment and Research.

Review Date: October 12, 2011

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Dysautonomia Information Network

The Dysautonomia Information Network (DINET) is a volunteer run 501(c)(3) nonprofit organization. Its mission is to raise awareness of autonomic nervous system dysfunction and to promote dysautonomia education, support and networking.

Review Date: March 20, 2013

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Dysautonomia Treatment and Evaluation Center

The Dysautonomia Treatment and Evaluation Center is maintained and supported by the Dysautonomia Foundation, a nonprofit organization founded in 1951, through its 16 local chapters throughout the United States, Canada, and Great Britain. The Center specializes in the diagnosis and treatment of familial dysautonomia, although they will respond to inquiries on other pediatric patients suspected of having a variant of this disorder or another of the congenital sensory neuropathies. While its primary goal is treatment, data on specific manifestations are accumulated and stored. The Center has a 24-hour telephone answering service and will make referrals. At present over 400 patients with familial dysautonomia are registered. The prevalence rate is one in 3,600 people of Ashkenazi Jewish extraction.

Review Date: August 26, 2008

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Dysautonomia Youth Network of America, Inc.

Founded in 1999 and professionally certified as a 501(c) (3) non-profit organization in 2002, the Dysautonomia Youth Network of America, Inc. (DYNA) is the first and only 501(c) (3) non-profit organization in existence specifically for childhood/adolescent/young adult onset dysautonomia conditions. The organization proudly serves patients, caregivers, families, physicians, researchers, educators and the public at large. Most DYNA members reside in the United States but some members hail from as far away as Australia, New Zealand, Scotland, England, South America, and Singapore. In addition to members reflecting the geographical diversity of dysautonomia conditions, they also reflect the diversity of dysautonomia conditions themselves. Members have a host of conditions such as: Post-Viral Dysautonomia, Generalized Autonomic Failure, Neurocardiogenic Syncope (NCS)/Vasovagal Syncope, Postural Orthostatic Tachycardia Syndrome (POTS), Neurally Mediated Hypotension (NMH), Post-Viral Dysautonomia, Non-Familial Dysautonomia and Multiple System Atrophy.

Review Date: February 26, 2013

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Ehlers-Danlos National Foundation

The Ehlers-Danlos National Foundation's focus is to provide emotional support to patients and their families, to educate health professionals and researchers about Ehlers-Danlos syndrome (EDS), and to teach patients how to deal with their individual problems. EDNF distributes reprints of articles on EDS and related issues. Call for a newsletter and a telephone network. The Foundation sponsors annual learning conferences.

Review Date: August 26, 2008

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Families of Spinal Muscular Atrophy

Families of Spinal Muscular Atrophy was founded to support families with members suffering from the condition and to promote research into treatments for spinal muscular atrophy (SMA). Spinal muscular atrophy is a group of diseases which affect all age groups, from newborns to adults. The diseases included under spinal muscular atrophy are: Infantile Progressive Spinal Muscular Atrophy (Werdnig-Hoffmann Disease), Juvenile Progressive Spinal Muscular Atrophy (Kugelberg-Welander Disease), and Adult Progressive Spinal Muscular Atrophy (Aran-Duchenne Type).

Review Date: October 26, 2011

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Foundation for PSP/CBD and Related Brain Diseases, Inc.

This nonprofit organization offers information on progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) and support to persons with CBD, their families, and their caregivers. Through its online service, the Foundation also offers physicians and other health care professionals information on treatment, research into PSP and research opportunities that are available.

Review Date: August 16, 2012

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Histiocytosis Association

The Histiocytosis Association was founded to coordinate a network of patients, families, physicians and others interested in providing support and solutions to the special problems caused by any of the histiocytic disorders. Histiocytosis is a general term for a group of rare disorders brought on by having too many histiocyte cells. The Association works closely with the Histiocyte Society, has a parent/patient directory and sponsors regional meetings. Funds research seeking better treatments, knowledge and the cure.

Review Date: February 20, 2009

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Human Growth Foundation

The Human Growth Foundation (HGF) is a national organization of volunteers concerned with child growth abnormalities, specifically dwarfism of all forms, whether caused by pituitary growth hormone deficiencies, Turner's syndrome, or bone disorders. The Foundation, created in 1965 by parents of children with severe growth problems, offers parent education and mutual support, supports research, and promotes public awareness of the physical and emotional problems of short-statured people. The core of founding parents has since been joined by medical persons (endocrinologists, pediatricians, and physicians) and researchers. HGF acts as a clearinghouse for families with growth problems and administers a medical research program.

Review Date: October 14, 2011

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Immune Deficiency Foundation

The Immune Deficiency Foundation (IDF) is a nonprofit, national, voluntary, health organization dedicated to promoting and supporting research into the causes, prevention, treatment, and cure of primary immunodeficiency diseases; gathering and disseminating information concerning research and treatment of these diseases; increasing public awareness; and establishing chapters in each State. Primary Immunodeficiency diseases (ranging in prevalence from 1 in 500 individuals to 30 to 50 cases yearly in the U.S.) are a group of diseases which occur when part of the body's immune system components is missing or does not function properly. This organization is supported by grants and donations from concerned individuals and groups.

Review Date: March 11, 2009

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Incontinentia Pigmenti International Foundation, Inc.

Incontinentia Pigmenti (IP) is a genetic disease of the skin, hair, teeth and central nervous system. The condition was named because of the way the skin looks under the microscope. "Bloch-Sulzberger Syndrome" is another name commonly used for IP. Other names are: Bloch-Siemens incontinentia pigmenti, melanoblastosis cutis linearis, and pigmented dermatosis, Siemens-Bloch type. Founded in 1995, IPIF is a non-profit organization guided by a Scientific Advisory Council, whose members are acknowledged experts in their fields. IPIF consists of patients, physicians, educators, parents, relatives, and volunteers who are striving to take leadership in supporting research, education, and funding. IPIF is a source of reliable information and support for patients and families in the United States and worldwide. Its mission is to encourage and support research on IP, and to provide family support and education.

Review Date: February 14, 2013

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International Rett Syndrome Foundation

As the most comprehensive worldwide organization dedicated to Rett syndrome, the International Rett Syndrome Foundation proudly continues fulfilling its core mission to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs and services. Rett syndrome (RTT) is a neuro-developmental disorder that occurs mostly in females. It’s usually caused by a mutation of the MECP2 gene on the x chromosome. Rett syndrome is found in all racial and ethnic groups throughout the world, and in every socioeconomic class. RTT affects 1 in 10,000-15,000 live female births. Early developmental milestones appear normal; between 6-18 months of age, there is a regression, affecting speech, hand skills and coordination. A hallmark of RTT is repetitive hand movements that may become almost constant while awake. Other features may include seizures, irregular breathing, difficulties swallowing and curvature of the spine. Many individuals with Rett syndrome live well into adulthood. In October of 1999, the discovery of genetic mutations in the gene MECP2 on the X chromosome (Xq28) revealed significant insight into the cause of Rett syndrome. This gene encodes an abundant chromosomal protein (MeCP2), which acts as a transcriptional repressor by binding to methylated CpG base pairs throughout the genome and silencing other genes. Rett syndrome is thought to arise in great part due to abnormal over-expression of genes improperly regulated by a defective MeCP2. This is the first instance of a human disease caused by defects in a protein whose function is to silence other genes. There is currently no cure. Continued research is now focused on still unidentified genetic factors which may contribute to Rett syndrome. Numerous target genes have been identified that are regulated by the MeCP2 protein. Genetic studies have begun to identify additional causative genes such as CDKL5 and FOXG1. Valuable animal models have been developed that effectively reproduce the disease and demonstrate the potential reversibility of the disease. Neurobiological studies have enabled us to determine some of the neurological underpinnings of Rett Syndrome pathogenesis.

Review Date: February 05, 2009

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Joubert Syndrome Foundation & Related Disorders Foundation

Joubert Syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. These issues are due to abnormal brain development, resulting in decreased size of the cerebellar vermis and other brain abnormalities that appear as the "molar tooth sign" on a brain MRI. Although rare, several hundred individuals with Joubert Syndrome have been reported in the medical literature. Mutations in at least 10 genes cause Joubert Syndrome, accounting for ~50% of patients. Subsets of individuals with Joubert Syndrome can also have polydactyly (extra fingers or toes), as well as retinal, kidney and liver disease requiring medical intervention. Joubert Syndrome is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. The cilium functions as an antenna for many cell types, allowing cells to communicate with each other and sense their environment during the development and function of many organs. In fact, cilia are required to sense light in the eye, odors in the nose and fluid flow in the kidneys and liver. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert Syndrome.

Review Date: October 26, 2011

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Klippel-Trenaunay Syndrome Support Group

The Klippel-Trenaunay Syndrome Support Group's mission is to provide support for K-T Syndrome patients and their families. Their objectives in accomplishing this mission are: to act as a support group for sharing experiences and information; to provide a clearinghouse for correspondence between members; and to maintain a list of current medical literature pertaining to K-T Syndrome and to make it available to members and professionals. There is no membership fee. The group is supported by donations.

Review Date: December 07, 2010

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Lynch Syndrome International

The primary mission of Lynch Syndrome International (LSI) is to serve our global communities by focusing on providing support for individuals afflicted with Lynch syndrome, creating public awareness of the syndrome, educating members of the general public and health care professionals and providing support for Lynch syndrome research endeavors. LSI, an all volunteer organization, is founded and governed by Lynch syndrome survivors, their families, and health care professionals who specialize in Lynch syndrome. If diagnosed early, Lynch syndrome survivors may have favorable outcomes which enhance survival, the longevity and quality of life as well as the emotional well-being of the afflicted.

Review Date: September 20, 2012

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Madisons Foundation

Madisons Foundation is dedicated to improving the quality and quantity of information available to parents of children with rare, life-threatening diseases, and to facilitating effective communication among parents, physicians and medical experts.

Review Date: January 27, 2012

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Maple Syrup Urine Disease Family Support Group

The Maple Syrup Urine Disease (MSUD) Family Support Group provides opportunities for support and personal contact for those with MSUD and their families. MSUD, which derives its name from the distinct sweet smell of the urine, affects the way the body metabolizes certain components of protein. The purpose of the support group, which began in 1983, is to gather and distribute information on MSUD, strengthen the liaison between families and professionals, and encourage research and newborn screening for MSUD. The organization sponsors biennial symposia. The group develops resources to meet the goals of support and education.

Review Date: July 08, 2010

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Mount Sinai Center for Jewish Genetic Diseases

The Mount Sinai Center for Jewish Genetic Diseases is the oldest center in the country dedicated to the care of patients with genetic disorders that are prevalent in the Jewish community and to conducting research focused on the development of improved diagnostic and treatment modalities. The Center conducts a Jewish genetic disease screening program, which provides expert screening and genetic counseling to individuals at risk for being carriers of these diseases. All services are provided by board-certified genetic counselors and clinical and molecular geneticists.

Review Date: October 18, 2011

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MUMS National Parent-to-Parent Network, Mothers United for Moral Support, Inc.

MUMS is a national Parent-to-Parent organization for parents or care providers of a child with any disability, rare disorder, chromosomal abnormality or health condition. MUMS' mission to provide support to parents in the form of a networking system that matches them with other parents whose children have the same or similar condition. Through a database of over 19,000 families from 54 countries, covering over 3200 disorders, very rare syndromes or undiagnosed conditions can be matched. Parents can then exchange valuable medical information, as well as, the names of doctors, clinics and medical resources or research programs. Families provide each other with emotional support; they don't feel so alone when they have each other to reach out to in time of need. MUMS networks with other organizations that do matching, thus expanding the possibilities of finding a match. MUMS also connects parents with support groups dealing with their child's specific disability or assists them in forming a group.

Review Date: December 11, 2008

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National Adrenal Diseases Foundation

The National Adrenal Diseases Foundation is a 501(c)(3) non-profit organization dedicated to providing support, information and education to individuals having Addison's disease as well as other diseases of the adrenal glands.

Review Date: May 24, 2011

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National Ataxia Foundation

The National Ataxia Foundation (NAF) is a non-profit organization established in 1957. The Foundation is dedicated to improving the lives of persons affected by ataxia through support, education and research. The Foundation supports research in dominant, recessive and sporadic ataxia. In addition, the Foundation has developed an extensive library of NAF brochures, fact sheets, books, and other educational material relating to ataxia. Also available to its members is a quarterly newsletter called "Generations," which provides the latest information on ataxia research, articles on living with ataxia, and personal accounts of ataxia families throughout the United States. For more information, visit NAF's web site at: www.ataxia.org.

Review Date: October 27, 2011

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National Dysautonomia Research Foundation

The National Dysautonomia Research Foundation (NDRF) is a non-profit organization established to help those who suffer with any of the various forms of autonomic nervous system disorders, also known as dysautonomias. The Foundation provides education and support to afflicted individuals and their families as well as supporting research efforts aimed at discover of the causes of, and treatments for, dysautonomias. In addition, NDRF provides timely and accurate information to the news media, healthcare professionals, patients, and the general public. Online resources include a directory of physicians and medical facilities that specialize in the research and treatment of dysautonomias.

Review Date: October 17, 2011

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National Endocrine and Metabolic Diseases Information Service, National Institute of Diabetes and Digestive and Kidney Diseases

The National Endocrine and Metabolic Diseases Information Service (NEMDIS) is a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health of the U.S. Department of Health and Human Services. The NEMDIS provides information about endocrine and metabolic diseases to people with endocrine and metabolic diseases and to their families, health care professionals, and the public. The NEMDIS answers inquiries, develops and distributes publications, and works closely with professional and patient organizations and government agencies to coordinate resources about endocrine and metabolic diseases.

Review Date: January 30, 2013

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National Eosinophilia-Myalgia Syndrome Network, Inc.

National Eosinophilia-Myalgia Syndrome Network, Inc. (NEMSN) is a non-profit organization dedicated to helping EMS survivors and their families by offering educational information and peer support. NEMSN is also committed to encouraging research to improve treatment for L-tryptophan-induced EMS and to increasing awareness of the cause and effects of the disease.

Review Date: September 24, 2009

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National Fragile X Foundation

The National Fragile X Foundation unites the fragile X community to enrich lives through educational and emotional support, promote public and professional awareness, and advance research toward improved treatments and a cure for fragile X syndrome.

Review Date: February 02, 2011

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National Gaucher Foundation

The NGF, a non-profit organization established in 1984, is an objective, independent voice of the Gaucher community, dedicated to providing leadership, outreach and innovative thinking. The NGF funds research, grants financial assistance, promotes education and awareness, and supports legislation. In addition, the NGF offers a wide range of programs and resources to meet the ever-increasing needs of individuals and families affected by Gaucher disease.

Review Date: September 12, 2011

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National Hemophilia Foundation

The National Hemophilia Foundation (NHF), founded 1948, serves hemophiliacs and their families through its local chapters. Patient services include support of comprehensive care centers, scholarships, patient education, blood drives, emergency financial assistance, and referrals. The NHF also provides research stipends, promotes public policies benefitting hemophiliacs, and sponsors public and professional education programs. NHF has promoted the concept of comprehensive hemophilia treatment programs and has obtained Federal funding for 20 such programs.

Review Date: August 25, 2008

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National Marfan Foundation

The National Marfan Foundation was founded in 1981 by patients and families of patients with Marfan Syndrome, a genetic disorder of the connective tissue. The organization has three goals: to educate patients, physicians, and the public about Marfan syndrome and related connective tissue disorders; to support affected people and their families; and to foster and develop research. The NMF holds an annual conference in the summer.

Review Date: April 20, 2009

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National Niemann-Pick Disease Foundation, Inc. (NNPDF)

The National Niemann-Pick Disease Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease, and provides support services for individuals and families affected by NPD. A comprehensive Web site, brochures, posters, newsletters, Facebook group, listserv groups, blog, etc., are available.

Review Date: August 27, 2008

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National Organization for Albinism and Hypopigmentation

The National Organization for Albinism and Hypopigmentation (NOAH) was founded in 1982 for the benefit of individuals and families with albinism and hypopigmentation. NOAH provides information and support, promotes public and professional education, and encourages research and research funding that will lead to improved diagnosis and treatment. The Organization has local chapters in some areas, and contact people in most states. NOAH is a nonprofit group, which receives its funding through membership fees, donations, and grants. NOAH conducts national and regional conferences.

Review Date: January 04, 2011

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National Organization for Rare Disorders

The National Organization for Rare Disorders, Inc. (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. Office hours are from Monday-Friday 9am-5pm EST. Voice mail is available. NORD's web site also includes a searchable version of the Rare Diseases Database (RDB). There are also additional NORD databases you may access.

Review Date: December 28, 2010

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National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is a non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders. NUCDF is a nationally-recognized resource of information and education for families and healthcare professionals. Founded in 1988, the Foundation is operated and supported by the volunteer efforts of families with children suffering from UCDs and is a supportive network of families, friends, and medical professionals.

Review Date: January 27, 2012

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National Vitiligo Foundation, Inc.

Established in 1985, the mission of the National Vitiligo Foundation, Inc. is to increase awareness and concern for vitiligo patients among the general public and the medical community. The Foundation supports scientific and clinical research on vitiligo, answers questions and distributes information pamphlets from the general public on vitiligo, makes referrals to physicians and to other families with vitiligo, and advises patients on cosmetics, sunscreens, and other products for use by those with vitiligo. The Foundation is devoted to finding new treatments, and ultimately, a cure for vitiligo. Resources include chapters, support groups, advocacy and awareness campaigns.

Review Date: March 20, 2013

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Noonan Syndrome Support Group, Inc.

Noonan Syndrome Support Group, Inc. (NSSG) is committed to providing support, current information, and understanding to those affected by Noonan syndrome, a condition often associated with congenital heart disease and short stature. NSSG is intended for people whose lives are touched by Noonan Syndrome, and want to exchange experiences, support, networking, and information.

Review Date: May 25, 2011

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Outreach Department of the Freeman-Sheldon Research Group, Inc.

FSRG has a number of resources available to families, patients, and others affected by Freeman-Sheldon (FSS) or Sheldon-Hall (SHS) syndromes, who are members of FSRG's Outreach Department. FSRG wants to have an involved membership and strives to provide responsive and relevant services to better help members. Some are research-related, meaning that the services are available only to those who enrol in research, and some services are not dependent upon enrolment in research. To become a member of the Outreach Department, you must complete an application, and FSRG must verify your status with the physician caring for the person with FSS or SHS. Diagnosis verification by FSRG is not required for membership.

Review Date: June 24, 2011

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Pituitary Network Association

The Pituitary Network Association (PNA) is a nonprofit organization which was formed in 1992 in Los Angeles, California, as the Acromegaly Network Association. Patients referred to PNA receive information on pituitary adenomas and peer-counseling. The lack of clear and concise written information about the various pituitary adenomas, and the difficult and intricate illnesses and afflictions associated with the many types of adenomas led the Association to engage some of the world's leading scientists, endocrinologists, and neurosurgeons to write information booklets and brochures, in layman's language. Publications are now available form PNA on Acromegaly, Cushing's, Prolactinomas, and pediatric tumors. The Pituitary Patient Resource Guide is available in it's 4th Edition.

Review Date: July 14, 2014

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Prader-Willi Syndrome Association - USA

Prader-Willi Syndrome Association (USA) is an organization of families and professionals working together to raise awareness, offer support, provide education and advocacy, and promote and fund research to enhance the quality of life of those affected by Prader-Willi syndrome, a genetic cause of life-threatening obesity in children.

Review Date: January 24, 2012

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Pulmonary Hypertension Association

The Pulmonary Hypertension Association (PHA) is a non-profit health organization, serving patients with pulmonary hypertension, their family members and the medical professionals who treat them. Its mission is to find ways to prevent and cure pulmonary hypertension, and to provide hope for the pulmonary hypertension community through support, education, and advocacy and awareness. PHA provides ongoing educational opportunities for patients and the medical community; the chance for patients to connect with others through support groups and online communities; print and online newsletters; and numerous other resources. PHA also funds cutting-edge research on pulmonary hypertension in collaboration with the National Heart, Lung, and Blood Institute, the American Thoracic Society and the American Heart Association. Pulmonary Hypertension is a simplified name for a complex health problem: high blood pressure in the lungs. It is a rare and currently incurable, but increasingly treatable condition that affects both genders and people of all ages and ethnic backgrounds.

Review Date: October 18, 2011

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Scleroderma Research Foundation

The mission of the Scleroderma Research Foundation is to find a cure for scleroderma, a life-threatening and degenerative illness, by funding and facilitating the most promising, highest quality research and by placing the disease and the need for a cure in the public eye.

Review Date: March 12, 2010

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Shwachman-Diamond America

Shwachman-Diamond America is a nonprofit organized exclusively for charitable, educational and scientific purposes. This organization is established to support and encourage research of SDS by providing grants to researchers and educating medical professionals of the need for research in the field of SDS. SDA educates physicians and families on various aspects of SDS and disseminates current medical information on SDS.

Review Date: November 20, 2008

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Shwachman-Diamond America

Shwachman-Diamond America is a nonprofit organized exclusively for charitable, educational and scientific purposes. This organization is established to support and encourage research of SDS by providing grants to researchers and educating medical professionals of the need for research in the field of SDS. SDA educates physicians and families on various aspects of SDS and disseminates current medical information on SDS.

Review Date: November 20, 2008

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Shwachman-Diamond Syndrome Foundation

The Shwachman-Diamond Syndrome Foundation (formerly Shwachman-Diamond Syndrome International) is a non-profit group that operates on national and international levels. The purpose of the organization is to support families dealing with this rare disease, to advocate research, disseminate medical information and raise public awareness.

Review Date: August 17, 2010

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Sickle Cell Disease Association of America

The Sickle Cell Disease Association of America (SCDAA) was founded in 1971 to educate the public about sickle cell disease, identify carriers of the disease, promote the interests of sickle cell patients, and make recommendations for screening, treatment, and genetic counseling programs. The SCDAA provides program development consultation for its 86 affiliates, raises funds, conducts a national screening program, conducts public educational and staff training programs, and provides patient services and financial aid through its affiliates.

Review Date: August 31, 2010

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Sickle Cell Information Center

The principal mission of this Center is to help break the sickle cycle. The Center works towards this goal by providing the sickle cell patient and professional access to education, news, research updates and world wide sickle cell resources via its web site; and offering compassionate care, education, counseling, and research for patients with sickle cell disease.

Review Date: May 24, 2012

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Sotos Syndrome Support Association

The Sotos Syndrome Support Association (SSSA) was organized in 1988 to provide a support network for families and individuals affected by the syndrome. Sotos syndrome, also known as cerebral gigantism, is a neurological brain-based disorder resulting in physical and mental developmental delays in children. The goals of the SSSA are to provide a social support environment for families and individuals with Sotos syndrome; increase public awareness and education about the disorder; and provide opportunites for professionals working with affected individuals to collect and share data for research. The SSSA has members across the United States, Canada and Great Britain, and sponsors an annual conference.

Review Date: August 13, 2010

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The LAM Foundation

The LAM Foundation provides support, education, and hope to women with Lymphangioleiomyomatosis (LAM), a progressive, debilitating lung disease. Our goals are to organize, marshal the forces of the scientific community, raise LAM from obscurity, and conquer it in a decade. The Foundation holds an annual research conference in Cincinnati for physicians, scientists and patients. Research pilot projects are funded at $10,000-$25,000 and three-year fellowships are funded from $35,000-$50,000 each year.

Review Date: November 04, 2010

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VHL (Von Hippel-Lindau) Family Alliance

The VHL Family Alliance provides information for families and physicians about this disorder, and local self-help support groups for families affected with VHL. Local family support chapters exist in regions of the U.S. Local chapter meetings are scheduled periodically. International VHL Support Organizations are established on six continents.

Review Date: April 12, 2011

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Xeroderma Pigmentosum Society

The Xeroderma Pigmentosum Society was founded to raise awareness about XP, a life-threatening, sun-sensitive, genetic disorder; to provide support to patients and their families through information, protection and services; and to promote research for a cure. XPS also offers a unique, international summer camp for families conducted in a UV-safe environment.

Review Date: September 09, 2010

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