Congenital Anomalies
Rare Disorders :: Conditions and Diseases

National Institutes of Health (NIH) News Releases

Scientists Define 21 New Genes Associated with Crohn's Disease
Mon, 21 Jul 2008 16:00:00 -0400
A consortium of researchers from the United States, Canada, and Europe has identified 21 new genes for Crohn’s disease, a chronic disease of the large and small intestines. This discovery, funded in part by the National Institutes of Health (NIH), brings the total number of known genes associated with Crohn's disease to more than 30 and advances understanding of causes and potential avenues to develop new treatments.
NIAID Will Not Move Forward With The Pave 100 HIV Vaccine Trial
Thu, 17 Jul 2008 15:16:00 -0400
After soliciting and considering broad input from the scientific and HIV advocacy communities, the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health (NIH), has determined that it will not conduct the HIV vaccine study known as PAVE 100. However, NIAID believes the vaccine developed by its Vaccine Research Center (VRC) is scientifically intriguing and sufficiently different from previously tested HIV vaccines to consider testing it in a smaller, more focused clinical study.
NHGRI Funds Next Step in Understanding Biological Roots of Common Diseases
Thu, 17 Jul 2008 08:38:00 -0400
The National Human Genome Research Institute, one of the National Institutes of Health, today announced grants expected to total about $31 million over the next four years for research aimed at gaining a better understanding of how specific genetic variants act to influence the risk of diabetes, heart disease, cancer and other common diseases.

CNN.com - Health

Make your home healthier in five easy steps
Wed, 23 Jul 2008 09:14:19 -0400
You may think your home is safe, but there may be toxins in your water, linens, and even your deck. There are several simple steps you can take to make your kitchen, living spaces, playroom, and backyard healthier for you and your family. Parenting has specific steps to follow.
Cancer expert warns employees on cell phones
Wed, 23 Jul 2008 19:29:15 -0400
Read full story for latest details.

 

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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, ... ]