Congenital Anomalies
Rare Disorders :: Conditions and Diseases

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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Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

A3243G - Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.
Meta Description: [ About 1% of Diabetes and Deafness, is 'caused' by a gene defect on the Mitochondrial DNA. This website provides a Support Group, a Forum and Information. ]

Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
Meta Description: [ BPES / BPEI Self-help group. Worldwide help and support for people who have Blepharophimosis Epicanthus Inversus Syndrome. ]

Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
Meta Description: [ Information on genetic conditions and birth defects for professionals, educators, and individuals. Links to lay advocacy and support groups, clinics with genetic counselors and geneticists, sites for children and young adults. Maintained by Medical Genetics, University of Kansas Medical Center ]

Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
Meta Description: [ Explores role of diet and nutrition in birth defects and conditions often attributed to just bad genes. ]

IMMD Institute of Medical Molecular Diagnostics Ltd. - The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
Meta Description: [ The IMMD is a leading Genetic Testing Laboratory located in Germany. Founded in 1994, IMMD currently provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood. ]

New Scientist: Heroin Addiction Gene Identified and Blocked - Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
Meta Description: [ The study in heroin-addicted rats led to a treatment that successfully eliminated cravings for the drug - human treatments may follow ]

Primary Ciliary Dyskinesia - Information on a rare congenital disease.
Meta Description: [ This website is from the PCD Interest Group (PCD Belangengroep). On this site you can find information on Primary Ciliary Dyskinesia in Dutch and English. ]

The Center For Jewish Genetics Disorders - A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.

500 The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
Meta Description: [ Information and support for families of infants or children with undiagnosed genetic disordes or very rare synromes. ]

Washington University in St Louis - Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
Meta Description: [ Fireworks Splice HTML ]

XLH Network - Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
Meta Description: [ XLH Network is a patient support group for: X-Linked Hypophosphatemia (XLH), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets. ]

Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
Meta Description: [ Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, Hemophilia, cystic fibrosis, Duchenne muscular dystrophy Becker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, ... ]