Organizations for Endocrine and Metabolic Diseases
Endocrine Resource Center
Adapted by Mary
4301 Connecticut Avenue, NW., Suite 404
Mary E. Davidson, Executive Director
Purpose: A non-profit organization providing information on genetic support groups and genetic services to individuals and families who have genetic disorders.
Publications: Alliance brochure; "Bibliography of Material on Basic Genetics and DNA Technology for the General Public"; "Directory of National Genetic Voluntary Organizations"; "Integrating Consumers into Regional Genetics Networks"; "Informed Consent - Participation in Genetic Research Studies"; "Media Reporting in the Genetic Age"; "Starting a Support Group"; monthly newsletter.
American Association of Clinical Endocrinologists
1000 Riverside Avenue, Suite 205
Christopher Seymour, M.B.A., Executive Director
Purpose: A professional medical organization of physicians with special education, training, and interest in the practice of clinical endocrinology. Provides information and education to endocrine patients so that they can have access to the best endocrine care possible. Does not include medical advice and diagnosis.
Publications: "The First Messenger" (bimonthly newsletter), Endocrine Practice (bimonthly professional clinical journal), Clinical Guidelines for various endocrine conditions, and a comprehensive membership directory that supplies addresses, phone numbers, specializations, clinical interests, and board certifications of members.
American Foundation of Thyroid Patients
P.O. Box 820195
Kelly Hale, President
Purpose: a national, non-profit organization for the awareness, education, and support of thyroid patients, their family members, healthcare providers, and interested parties. Support/Interest groups forming around America, low-cost public thyroid disease screenings, educational information/seminars, thyroid physican referrals.
Publications: Quarterly education newsletter/latest findings in thyroid disease, self-help information.
American Porphyria Foundation
P.O. Box 22712
Desiree Lyon, Executive Director
Purpose: Provides financial support for researchers in porphyria; improves the diagnosis and treatment of porphyria through educational programs; serves as a network for porphyria patients. Also sponsors support groups, political action, seminars, and fund-raising projects.
Publications: General brochure; Diet and Nutrition in Porphyria; Porphyria Cutanea Tarda; (AIP) Acute Intermittent Porphyria; (EEP) Erythropoietic Protoporphyria; The Prophyrias--An Overview; Hematin; and Newsletter. These brochures are all available with membership. Bulk orders are available upon request.
American Society for Bone and Mineral Research
1200 19th Street NW., Suite 300
Julia A. Janko, Executive Director
Purpose: A professional organization of physicians, dentists, veterinarians, and other doctors interested in research and bone and mineral diseases. Supports clinical and basic research studies and encourages and mentors young scientists in the field of bone and mineral metabolism. There is no patient referral system except to osteoporosis or Paget's disease organizations.
Publications: Journal of Bone and Mineral Research (monthly); membership roster (biennially); newsletter (quarterly).
American Society of Human Genetics
9650 Rockville Pike
Elaine Strass, Executive Director
Purpose: A professional society of physicians, researchers, genetic counselors, and others interested in human genetics. Strives to inform health professionals, legislators, health policy makers, and the general public about all aspects of human genetics.
Publications: American Journal of Human Genetics (monthly); Membership Directory (biennially); Supplement to Journal (annually); Guide to Human Genetics Training Programs in North America.
American Thyroid Association
Montefiore Medical Center
Diane Miller, Administrator
Purpose: A professional organization of physicians and scientists dedicated to scientific research on the thyroid. The association refers the public to member physicians in their geographic area on request.
Publications: Newsletter (quarterly); information pamphlets.
Association for Glycogen Storage Disease
P.O. Box 896
Hollie Swain, President
Purpose: Acts as a forum for the discussion of glycogen storage disease (GSD), its treatment, and the problems faced by parents raising children with GSD. Disseminates medical information; fosters communication between the families of GSD patients and health care professionals. Helps obtain equipment necessary for home care of GSD patients.
Disorder: GSD is a hereditary condition characterized by a lack of or deficiency in any of the enzymes used by the body to break down glycogen. Glycogen storage diseases include von Gierke's disease, Pompe's disease, McArdle's disease, Forbes' disease, and Andersen's disease.
Publications: The Ray (periodic newsletter); Parent Handbook and other brochures.
Association for Neuro-Metabolic Disorders
5223 Brookfield Lane
Cheryl Volk, Parent Representative
Purpose: A member organization of families with children who have metabolic disorders that affect the brain. The organization provides support through personal awareness, family understanding and participation, and professional health care intervention.
Disorder: Neuro-metabolic disorders include many different, often inherited, diseases such as maple syrup urine disease, galactosemia, and biotinidase deficiency. These diseases affect body chemistry, but the organ damaged is the brain.
Publications: Newsletter (3 times a year).
Cushing's Support and Research Foundation, Inc.
65 East India Row 22B
Louise L. Pace, Founder and President
Purpose: Provides information and support for patients along with expert medical advice from physicians. Facilitates correspondence between members and maintains a referral listing of hospitals, endocrinologists, and surgeons.
Cystic Fibrosis Foundation
6931 Arlington Road
Robert Beall, President
Purpose: Supports medical research, professional education, and a nationwide network of care centers to benefit patients with cystic fibrosis (CF). Supports services for young adults with CF.
Publications: Information brochures.
4350 East West Highway, Suite 500
P. Michael Conn, President
Purpose: A professional organization of scientists, educators, clinicians, practicing M.D.s, nurses, and students representing all basic, applied, and clinical interests in endocrinology and devoted to research, study, and clinical practice of endocrinology. Works to improve understanding of endocrinology among the general public and medical practitioners and to promote the interests of endocrinologists at the national scientific research and health policy levels of government.
Publications: Journal publications include Endocrine Reviews; Endocrinology; The Journal of Clinical Endocrinology and Metabolism; and Molecular Endocrinology. Books include Molecular and Cellular Research Syllabi; Program and Abstracts Book; Recent Progress in Hormone Research Conference Proceedings; Clinical Endocrinology Update Syllabi; Remembrances in Endocrinology; and Endocrine Reviews Monograph Series. They also have a publication called Endocrine News.
Fatty Oxidation Disorders Family Support Group
Deb Lee Gould, Director
Purpose: To support families in the United States and abroad coping with rare genetic Fatty Oxidation Disorders (MCAD, LCHAD, LCAD, SCAD, GAII, CPT). Provide a biannual newsletter to families and interested professionals on practical coping information, family stories, and medical and pharmaceutical updates and resources. Facilitate network of families with a similar disorder.
Publications: FOD Communication Network--biannual newsletter for families and professionals.
H.E.L.P., The Institute for Body Chemistry
P.O. Box 1338
Edward A. Krimmel and Patricia T. Krimmel, Co-directors
Purpose: Promotes medical/scientific research concerning the relationship between food chemistry and body chemistry specifically related to hypoglycemia. Disseminates information on body chemistry.
Hemochromatosis Foundation, Inc.
P.O. Box 8569
Margaret A. Krikker, M.D., President
Purpose: Seeks to increase public and professional awareness of hereditary hemochromatosis (HH) and the hazards of supplemental iron. Encourages routine use of screening tests by physicians. Assists public, patients, families, and physicians with HH diagnosis, treatment, and genetic counseling and in forming regional support networks. Provides telephone referral service to patients requesting names of physicians and research centers concerned with HH.
Disorder: Hereditary hemochromatosis is a disorder of iron metabolism in which dietary iron absorption exceeds body needs. If not diagnosed and treated, the accumulating iron may result in one or more complications such as liver enlargement, heart irregularities and failure, diabetes and other hormonal deficiencies, and arthritis.
Publications: Hemochromatosis Awareness (quarterly newsletter); information booklets and videotapes.
Human Growth Foundation
7777 Leesburg Pike, Suite 202 South
Kimberly Frye, Executive Director
Purpose: A member organization of families of children with physical growth problems and interested persons united to help medical science better understand the process of growth. Distributes funds for basic and clinical growth research.
Publications: Fourth Friday (monthly newsletter); Growth Series (brochures).
Hypoglycemia Support Foundation, Inc.
3822 NW. 122nd Terrace
Roberta Ruggiero, President
Purpose: Seeks to inform, support, and encourage people with hypoglycemia about diet and hypoglycemia.
Publications: The Hypoglycemia Support Foundation Newsletter (quarterly); The Dos & Don'ts of Low Blood Sugar (book).
Iron Overload Diseases Association, Inc.
433 Westwind Drive
Roberta Crawford, President
Purpose: Serves and counsels hemochromatosis patients and families and offers doctor referral, as well as patient advocacy with insurance, Medicare, blood banks, and the FDA; encourages research and public information; emphasizes early diagnosis and encourages research.
Publications: Ironic Blood: Information on Iron Overload (bimonthly newsletter); Overload: An Ironic Disease (booklet); Iron Overload Alert (information brochure).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
Jennifer Howe, Ph.D., President
Purpose: Promotes education and research on genetic and environmental causes of birth defects.
Publications: Information pamphlets.
Metabolic Information Network
P.O. Box 670847Susan G. Mize, Project Director
Purpose: Provides a system for sharing reported data on inborn errors of metabolism that may be useful to professionals caring for patients, to research investigators, and to patients seeking access to treatment.
Disorders: The 10 groups of disorders in MIN's working database of inborn errors of metabolism are biotin defects, galactosemias, glycogen storage diseases, hereditary tyrosine disorders, homocystinurias, hyperphenyl- alaninemias, maple syrup urine diseases, mucopolysaccharidoses, organic acidurias, and urea cycle disorders.
National Adrenal Diseases Foundation
505 Northern Boulevard, Suite 200
Joyce Mullen, Executive Director
Purpose: Provides a national self-help network for educational and emotional support for patients and their families.
Publications: NADF Newsletter (periodic); educational materials.
National Center for the Study of Wilson's Disease
432 West 58th Street, Suite 614
I. Herbert Scheinberg, M.D., President
Purpose: Encourages and supports research concerning hereditary diseases of copper metabolism (Wilson's disease and Menkes' disease). Seeks to increase doctors' awareness of these diseases; and sponsors a diagnostic and treatment center for Wilson's disease.
Disorder: Wilson's disease is a genetic disorder in which excessive amounts of copper collect in the liver, brain, and kidneys. Menkes' disease is the reverse of Wilson's disease and is characterized by a defect in intestinal absorption of copper that leads to copper deficiency.
Publications: Information brochures. (See also Wilson's Disease Association).
The National MPS Society
102 Aspen Drive
Linda K. Shine, President
Purpose: Acts as a support group for families of children with MPS (mucopolysaccharidoses) and ML (mucolipidoses); increases professional and public awareness; facilitates diagnosis and treatment through referrals to doctors and hospitals; and raises funds to further research on MPS and ML.
Disorders: MPS and ML are rare hereditary disorders caused by the body's inability to produce certain enzymes, resulting in an abnormal deposit of complex sugars in tissues and cells. This causes progressive damage that can range in severity from bone and joint involvement to massive complications in all organ systems.
Publications: Courage (quarterly newsletter); information booklets.
National Organization for Rare Disorders
P.O. Box 8923
Abbey S. Meyers, Executive Director
Purpose: Acts as a clearinghouse for information about orphan diseases and as a network for families with similar disorders; encourages and promotes increased scientific research on the cause, control, and ultimate cure of rare disorders, including inherited metabolic diseases; accumulates and disseminates information about orphan drugs and devices; and educates the general public and medical profession about the existence, diagnosis, and treatment of rare disorders.
Publications: Orphan Disease Update (quarterly newsletter)
National Osteoporosis Foundation
1150 17th Street, NW., Suite 500
Sandra C. Raymond, Executive Director
Purpose: Increases public awareness and knowledge about osteoporosis; provides information to patients and their families; educates physicians and allied health professionals; and supports basic biomedical, epidemiological, clinical, behavioral, and social research and research training.
Publications: Osteoporosis Report (quarterly newsletter);Osteoporosis: A Woman's Guide and Boning Up on Osteoporosis: A Guide to Prevention and Treatment; information brochures and other educational materials.
Organic Acidemia Association, Inc.
14600 41st Avenue North
Kathy Stagni, Executive Director
Purpose: Fosters communication among parents and professionals; acts as a support group. Members include dietitians, researchers, and geneticists; clinics; parents and relatives of children with organic acidemia disorders.
Disorder: Organic acidemia is the collective name for a class of genetic metabolic disorders that lead to enzyme deficiencies and require protein-restricted diets. Organic acidemia disorders include propionic acidemia, arginino succinic aciduria, isovaleric acidemia, and methylmalonic aciduria.
Publications: Organic Acidemia Association Newsletter (quarterly).
Oxalosis and Hyperoxaluria Foundation (OHF)
12 Pleasant Street
Tammy Murphy, Executive Director
Mission: To inform the public, especially patients, parents, families, physicians, and medical professionals about hyperoxaluria and the related conditions, i.e., oxalosis and calcium-oxalate kidney stones; to provide a support network for those affected by hyperoxaluria; and to support and encourage research to find a cure for hyperoxaluria.
Materials: Patient Handbook (Re: Hyperoxaluria); In Touch (newsletter); website resources.
The Paget Foundation for Paget's Disease of Bone and Related Disorders
120 Wall Street, Suite 1602
Charlene Waldman, Executive Director
Purpose: Serves patients with Paget's disease of bone, primary hyperparathyroidism, and other related disorders; and assists the medical community that treats these patients.
Publications: Newsletter (quarterly); Primary Hyperparathyroidism (patient education brochure).
Pituitary Tumor Network Association
16350 Ventura Boulevard, Suite 231
Robert Knutzen, Chairman, CEO
Purpose: Promotes early diagnosis; encourages research, and pursues the cure of diseases caused by pituitary tumors; serves patients with diseases caused by pituitary tumors; and provides a telephone network of people with pituitary tumors in all age groups.
Publications: Network (quarterly newsletter); information pamphlets; The Pituitary Patient Resource Guide for pituitary patients, their families, physicians, and all health care providers.
Society for Inherited Metabolic Disorders
Oregon Health Sciences University/L473
Dr. David Rosenblatt, President
Purpose: A professional organization working to increase knowledge of human physiology and biochemistry by investigating epidemiology, etiology, metabolism, pathogenesis, and prevention of conditions caused by inherited metabolic disorders. Promotes research collaboration, technological advances, and public understanding by providing a forum for communication among experienced investigators, advising the public directly and through existing organizations, and promoting public funding in support of these objectives.
Thyroid Foundation of America, Inc.
Room 350, Ruth Sleeper Hall
Purpose: Provides public education programs, patient information, and support. Refers patients to qualified endocrinologists. Please send a business sized self-addressed stamped envelope.
Publications: The Bridge (quarterly newsletter); information brochures.
The Thyroid Society for Education and Research
7515 South Main Street, Suite 545
Christine Jessee, Executive Director
Purpose: Pursues the prevention, treatment, and cure of thyroid disease and engages patient, physician, and community education.
Publications: Series of eight patient education brochures; quarterly newsletter, The Thyroid Connection; and patient education book, Could It Be My Thyroid? by Sheldon Rubenfeld, M.D.
United Leukodystrophy Foundation
2304 Highland Drive
Paula Braazeal, President
Purpose: Acts as a support group for parents and families of patients with various forms of inherited leukodystrophy.
Disorder: The leukodystrophies are a group of genetically determined neurologic disorders in which progressive degeneration occurs, primarily affecting white matter. The leukodystrophies include Krabbe's leukodystrophy (globoid cell leukodystrophy or GLD), metachromatic leukodystrophy (MLD), adrenoleukodystrophy, Pelizaeus-Merzbacher disease, spongy degeneration of the brain, and Alexander's disease.
Wilson's Disease Association
4 Navaho Drive
H. Ascher Sellner, President
Purpose: Promotes and sponsors research concerning the cause, treatment, and cure of Wilson's and Menkes' diseases; stresses the importance of public awareness, early diagnosis, and treatment; provides financial aid and moral support to needy individuals and organizations sharing the association's goals; collects and disseminates information to members and the public concerning developments, current research, and legislation; and acts as a clearinghouse.
Publications: The Wilson's Disease Association publishes brochures on Wilson's disease. Serial publication: Wilson's Disease Association Newsletter, quarterly--tips for patients and reports about current research and legislation.
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