Genetic Disorders

National Institutes of Health (NIH) News Releases

Schizophrenia and Bipolar Disorder Share Genetic Roots
Wed, 01 Jul 2009 15:45:00 -0400
A trio of genome-wide studies -- collectively the largest to date -- have pinpointed a vast array of genetic variation that cumulatively may account for at least one third of the genetic risk for schizophrenia. One of the studies traced schizophrenia and bipolar disorder, in part, to the same chromosomal neighborhoods.
Imaging Technique Allows Researchers to Monitor Protein Changes in Mouse Tumors
Wed, 01 Jul 2009 12:05:00 -0400
A new imaging technique can monitor, in living mice, the HER2 protein found in above-normal amounts in many cases of breast cancer as well as some ovarian, prostate and lung cancers. This new approach, once validated in mice and pending further experiments, could provide a real-time noninvasive method for identifying tumors in humans who express HER2 and who would be candidates for targeted therapy directed against this protein. It may also provide real-time information that will help clinicians optimize treatment for individual patients. The study, published in the July 2009 issue of The Journal of Nuclear Medicine, was conducted by researchers at the National Cancer Institute (NCI) and the National Institute of Biomedical Imaging and Bioengineering, both parts of the National Institutes of Health.
Dynasty: Influenza Virus in 1918 and Today
Tue, 30 Jun 2009 09:10:00 -0400
The influenza virus that wreaked worldwide havoc in 1918-1919 founded a viral dynasty that persists to this day, according to scientists from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. In an article published online on June 29 by the New England Journal of Medicine, authors Anthony S. Fauci, M.D., Jeffery K. Taubenberger, M.D., Ph.D., and David M. Morens, M.D., argue that we have lived in an influenza pandemic era since 1918, and they describe how the novel 2009 H1N1 virus now circling the globe is yet another manifestation of this enduring viral family.

CNN.com - Health

Police: Hospital worker swiped shots, spread hep C
Fri, 03 Jul 2009 18:18:42 -0400
A former hospital employee may have exposed hundreds or thousands of surgical patients to hepatitis C when she replaced clean needles filled with the powerful painkiller fentanyl with her own dirty needles filled with saline solution.
Health.com picks top beach, lake getaways
Fri, 03 Jul 2009 13:47:40 -0400
We know your summer vacation time is precious: You want to land where you can truly relax, breathe fresh air, get in some exercise and eat well -- without breaking the bank. That's why we teamed up with a panel of travel and health experts to help us find the healthiest of the nation's most popular beach and lake towns.

 

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National Organization for Rare Disorders, Inc. - Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]

Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.
Meta Description: [ Support and Research Organization for families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia (CDH) ]

Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]

Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.
Meta Description: [ Site is dedicated to providing support for individuals and families seeking answers on Fibrous Dysplasia, a rare bone disease that effects children. ]

Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization.
Meta Description: [ helping adults and parents of children with disorders of growth and growth hormone through research, education, support, and advocacy ]

Information Centre for Rare Diseases and Orphan Drugs - Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration forms
Meta Description: [ Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) in Bulgaria - the first Eastern European information and educational service, dedicated to all patients, associations and medical professionals, interested in rare diseases and orphan drugs. The centre is situated in Plovdiv (Bulgaria... ]

Kindler Syndrome - An article and case study of this rare disease. Includes links.

Lymphangiomatosis and Gorham's Vanishing Bone Disease - Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.
Meta Description: [ This page is made by a small family in Denmark, because our son has been diagnosed with the ]

Nomid /Cinca - Resource for parents and patients suffering from Neonatal Onset Multi-inflammatory Disease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome. Site maintained by patients, parents and friends for their counterparts worldwide. Email support group at eGroups.

Office of Rare Diseases - Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

Tetrahydrobiopterin - Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
Meta Description: [ BH4 - Tetrahydrobiopterin Deficiencies ]