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Genetic Disorders

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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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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Association for Glycogen Storage Disease

The Association for Glycogen Storage Disease (AGSD) is a nonprofit support group, established in 1979, for families and persons affected by glycogen storage disease (GSD). AGSD was organized to promote and protect the interests of all persons affected by GSD; to coordinate scientific, educational, and charitable activities related to GSD; to act as a clearinghouse on GSD-related matters; and to publish and distribute material to doctors and other interested persons. AGSD holds a yearly conference focusing on the latest research, care, and treatments available to affected persons.

Review Date: January 06, 2012

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Association for Neuro-Metabolic Disorders

The Association for Neuro-Metabolic Disorders, (ANMD), a non-profit organization, was founded in 1984 at the University of Michigan Medical Center, Ann Arbor. ANMD's primary objective is to serve as an advocate organization for families of patients with neuro-metabolic disorders such as phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia and biotinidase. ANMD provides educational information for parents and children; provides networking information on support groups for new parents; supports scientific research into the treatments of neuro-metabolic disorders.

Review Date: March 04, 2009

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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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Birth Defect Research for Children, Inc.

Birth Defect Research for Children, Inc. (BDRC) is a 501(c)(3) non-profit organization that provides parents and expectant parents with information about birth defects and support services for their children. BDRC has a parent-matching program that links families who have children with similar birth defects. BDRC also sponsors the National Birth Defect Registry, a research project that studies associations between birth defects and exposures to radiation, medication, alcohol, smoking, chemicals, pesticides, lead, mercury, dioxin and other environmental toxins. Each year, BDRC responds to thousands of birth defect information requests from all over the world. BDRC's on-line environmental health updates provide thousands of parents, professionals and organizations with daily news on the latest birth defect research.

Review Date: February 19, 2013

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Children's Cancer & Blood Foundation

The Children's Blood Foundation (CBF) was founded in 1952 as a philanthropic organization to support the Division of Pediatric Hematology and Oncology. The Division of Pediatric Hematology and Oncology at the New York Hospital-Cornell Medical Center is the sole beneficiary of CBF's committed efforts. Major emphasis is on blood diseases affecting children: leukemia, thalassemia, hemophilia, sickle cell anemia, platelet disorders, retinoblastoma, and AIDS. CBF trains physicians and hematology nurse clinicians in the treatment of blood diseases. Other CBF activities include a hemophilia home care program, group discussions for parents and patients, genetic counseling and screening, and public education.

Review Date: February 20, 2009

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Children's Craniofacial Association

Children's Craniofacial Association is a national, 501(c)3 nonprofit organization, headquartered in Dallas,Texas, dedicated to improving the quality of life for people with facial differences and their families. Nationally and internationally, CCA addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions. CCA's mission is to empower and give hope to individuals and families affected by facial differences.

Review Date: April 21, 2011

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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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Debra of America, Inc.

The Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA) was formed in 1979 as a self-help group for persons suffering from epidermolysis bullosa (EB), a group of inherited skin disorders characterized by the formation of blisters after mild trauma. Staff provide professional and emotional guidance, raise funds for research, and help administer public and professional education. DEBRA of America and its sister organizations in Australia, England, New Zealand, and Israel are dedicated to improving public and professional understanding and awareness of EB.

Review Date: August 25, 2008

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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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Fanconi Anemia Research Fund, Inc.

Fanconi Anemia Research Fund, Inc., is a nonprofit corporation established in 1989. It is committed to providing education and support services to families around the world affected by FA. The Fund sponsors a variety of programs and services to assist the FA patients and their families. The Fanconi Anemia Research Fund manages two online Support Groups, which allows adults with FA and families affected by FA to exchange questions and information with others affected by FA. The Fund provides education to those affected by FA. The Annual Family Meeting brings specialists and families together, providing parents and adults with FA with the latest information on health care guidelines, as well as giving children with FA opportunities for leisure activities in a supportive environment.

Review Date: June 09, 2011

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FightSMA

FightSMA is an international 501(c)(3) organization committed to accelerating a cure for spinal muscular atrophy (SMA), which kills more babies than any other genetic disease. Since it was founded in 1991 as Andrew’s Buddies Corp., FightSMA has worked to bring higher levels of awareness and understanding of SMA by funding research, launching awareness campaigns, and holding an annual conference.

Review Date: October 27, 2011

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Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation for Ichthyosis and Related Skin Types, Inc. (FIRST) is a nonprofit organization supported by public contributions and membership fees. FIRST raises funds to promote research on ichthyosis, a rare genetic skin disease, provide advice, guidance, and support among those affected; and distribute educational material to the public and medical professionals. The Foundation uses its national network of volunteers to bring self-help and educational support to individual members and their families. FIRST sponsors national and regional meetings and conferences, which feature leading researchers and clinicians and allow individuals with Ichthyosis to meet each other.

Review Date: May 17, 2011

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Genetic Alliance

Genetic Alliance is a nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance’s network includes more than 1,000 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations.

Review Date: October 24, 2011

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Hereditary Disease Foundation

The Hereditary Disease Foundation (HDF) aims to cure genetic illness by supporting basic biomedical research. The Foundation uses a variety of strategies – workshops, grants, fellowships, and targeted research contracts – to solve the mysteries of genetic disease and develop new treatments and cures. HDF has spent over $60,000,000 to support pioneering research in genetics, gene therapy, molecular and cell biology, cell survival and death, animal models, neurophysiology, neuropharmacology and other areas relevant to the understanding of inherited diseases. HDF is a 501(c)(3) nonprofit organization.

Review Date: October 31, 2011

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Huntington's Disease Society of America

HDSA is a 501(c)3 not-for-profit organization recognized as a charity in good standing by the IRS(EIN: 133349872) and meets all the required high Standards of Excellence of the BBB Wise Giving Alliance. HDSA currently supports more than 40 scientists and 16 major HD laboratories in North America and around the world through HDSA Coalition for the Cure with annual grants which range from $40,000 to $100,000 for HD investigations. Twenty-one HDSA Centers of Excellence at locations in major hospitals and university medical centers are supported by HDSA across the continental United States. The national office also produces and distributes, free of charge, publications and informational materials on HD and maintains a toll-free information hotline to assist physicians, patients and family members. Through 12 HDSA regions, 38 volunteer-based chapters and affiliates, 200+ support groups, HDSA reaches out across the nation to offer HD patients and their families guidance, encouragement, resource information and leadership opportunities at HDSA events, meetings and seminars.

Review Date: May 26, 2011

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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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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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KS&A (Knowledge, Support, and Action)

KS&A is a non-profit organization addressing the needs of the approximately 1 out of 500 individuals who were born with one or more extra X and/or Y chromosomes, as well as their families and the clinicians, educators and research scientists serving them. Conditions addressed include: 47,XXY; Klinefelter syndrome; Trisomy X; 47,XYY syndrome and the approximately 20 additional variations involving additional X and/or Y chromosomes and mosaicism.

Review Date: September 19, 2011

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Little People of America, Inc.

Little People of America, Inc. will provide support and information to people of short stature, (dwarfism), and their families. Primary membership usually is offered to those people who are around 4’10” in height as an adult. LPA is a non-profit, member run organization founded in 1957. LPA will assist those who have a diagnosis of dwarfism with their physical and developmental concerns resulting from short stature. LPA offers information on employment, education, disability rights, adoption of short statured children, medical issues, clothing, adaptive devices and parenting tips. Information is provided through hundreds of dedicated volunteers throughout the U.S. as well as through a national newsletter “LPA Today,” chapter, and district newsletters. LPA also provides opportunities for social interaction at chapter, district, regional meetings, national conferences, and participation in athletic events. LPA, Inc. provides educational scholarships, medical assistance grants, access to our medical advisory board, and funds for publications and other projects.

Review Date: January 12, 2011

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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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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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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 Birth Defects Center

Established in 1984, the Center provides diagnosis and treatment to children born with Birth Defects, Genetic Diseases and Mental Retardation. The Center consists of physicians and consultants in pediatrics, genetics, orthopedics, cardiology, neurology, ophthalmology, endocrinology, craniofacial surgery, plastic surgery, and other specialties. The Center houses the Pregnancy Environmental Hotline, a toll-free service which provides information concerning the effects that drugs, medications, radiation, infections, or environmental agents may have on the fetus.

Review Date: August 27, 2008

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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 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 Newborn Screening and Genetics Resource Center

The National Newborn Screening and Genetics Resource Center (NNSGRC) is a cooperative agreement between the Maternal and Child Health Bureau (MCHB), Genetic Services Branch and the University of Texas Health Science Center at San Antonio (UTHSCSA), Department of Pediatrics. The project is funded by the Health Resources and Services Administration (HRSA). The mission of the NNSGRC is to: 1) provide a forum for interaction between consumers, health care professionals, researchers, organizations, and policy makers in refining and developing public health newborn screening and genetics programs; and 2) serve as a national resource center for information and education in the areas of newborn screening and genetics.

Review Date: May 22, 2014

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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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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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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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The Children's Tumor Foundation

The Children's Tumor Foundation is a non-profit 501(c)(3) medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses (NF). The mission of The Children's Tumor Foundation is to: Encourage and support research and the development of effective treatments for neurofibromatosis types 1 and 2, schwannomatosis and related disorders (hereafter collectively referred to as "NF"); Support persons with NF, their families and caregivers by providing thorough, accurate, current and readily accessible information; Assist in the development of clinical centers, best practices, and other patient support mechanisms (but not including direct medical care) to create better access to quality healthcare for affected individuals; and, Expand public awareness of NF to promote earlier and accurate diagnoses by the medical community, increase the non-affected population's understanding of the challenges facing persons with NF, and encourage financial and other forms of support from public and private sources.

Review Date: April 01, 2012

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The United Mitochondrial Disease Foundation

UMDF’s mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. Since 1996, the UMDF has provided more than $8 million in grants to support the research that may lead to a less invasive diagnosis and ultimately a cure. Members of the UMDF are able to network with other families and individuals to talk about mitochondrial disorders. UMDF members are able to find support on the local and regional level through various chapters, groups and ambassadors. The UMDF maintains a website to provide the latest news and information about issues relating to mitochondrial disease research and information. The UMDF also holds an annual international symposium that brings together the best physicians and researchers for patients and family members to gain valuable information.

Review Date: March 08, 2013

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Turner Syndrome Society

The Turner Syndrome Society of the United States (TSSUS) is a national non-profit 501 (c) (3) organization that provides health-related resources to patients, families and physicians for the diagnosis and treatment of Turner syndrome. There are chapters and support groups located throughout the country. TSSUS holds an annual conference with speakers from a variety of professions including medical experts, social workers, educators and psychologists. These meetings provide an opportunity to exchange information on many topics of interest to TS patients of all ages.

Review Date: November 10, 2011

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Williams Syndrome Association, Inc.

The Williams Syndrome Association, Inc., is a national, non-profit organization whose purpose is to provide support and the latest medical and educational information to individuals with Williams Syndrome and their families. WSA also strives to increase awareness and knowledge of Williams Syndrome among the professional community and the general population. Williams Syndrome is a rare, genetic disorder which is present at birth and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. Inquiries are accepted by the WSA via telephone, mail, electronically or in person.

Review Date: April 12, 2011

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