Tag: "hereditary" at biology news
Mice provide insight into bone metabolism disorders
...al fellows in Ross' laboratory. JPD, also known as hereditary
hyperphosphatasia or hyperostosis corticalis deformans juvenilis, is a painful skeletal disease characterized by abnormally fast formation and breakdown of bone throughout the body that leads to debilitating fractures and deformities beginning soon a...
Awards of the Netherlands greatest prize for science
...959) is to receive the Award for his research into hereditary
forms of thrombosis (blood-clotting) and the consequences this has. He carries out research into hereditary
thrombotic factors and diseases such as venous thrombosis and myocardial infarction. Professor Rosen...
Moffitt Cancer Center receives DoD funds to establish National Functional Genomics Project
...erapeutic agents and a better understanding of the hereditary
and environmental influences that contribute to cancer and other diseases. "We need a new way to classify tumors," says Pledger. "The current method of categorizing them based solely on the tissue they arise in is not adequate for relating how they...
Breast cancer gene repairs damaged DNA
...2 gene, which is implicated in the development of hereditary
breast and ovarian cancers, reveal that the protein is intimately involved in repairing damaged DNA. DNA-repair proteins perform a vital function and protect against potentially catastrophic events such as cancer-causing mutations or chromosome rearr...
Wake Forest-Johns Hopkins team discovers prostate cancer gene
...ysfunctional) the MSR1 protein -- in families with hereditary
prostate cancer. "Importantly, they were either no... D174Y variant they already were tracking in their hereditary
prostate cancer families; one of the two already had a high normal PSA test. Since the gene is on a...
Heart disease gene linked to prostate cancer
... implicated mutations in a "heart disease gene" in hereditary
prostate cancer. The findings, which offer new ev...ate cancer, researchers screened 159 families with hereditary
prostate cancer and found seven different mutations in the MSR1 gene in 13 families or about eight p...
Researchers discover new risk factor for colon cancer
...t we think of as common and age-related can have a hereditary
component." In the case of Bloom syndrome, people who have two defective copies of the BLM gene are generally of short stature and have a variety of physical defects and a predisposition to developing many types of cancer. Bloom syndrome occurs in...
New insight into fragile X syndrome: Scientists identify possible link to RNAi
...on. Fragile X syndrome is the most common form of hereditary
mental retardation, affecting 1 in 4000 males and 1 in 8000 females. Fragile X syndrome is the result of a genetic mutation at one end of the fragile X mental retardation 1 gene (FMR1) that causes the abnormal inactivation of the gene. It is known th...
New breast cancer gene discovered
...y-Claire King, discovered the first gene linked to hereditary
breast cancer, called BRCA1....
Special report: Personal genomics
...d a client may conclude they are about to die of a hereditary
disease. Assuming the technology gets this far, what will your genome reveal? Researchers may know a fair amount about genes that cause relatively rare diseases, such as cystic fibrosis, but we're still in the dark about mutations that predispose peo...
OSU genetics expert wins award for lifetime achievement
...netics research. Over the years, approximately 34 hereditary
disorders have been identified in the Finnish popu...many of them. These include diastrophic dysplasia, hereditary
hypogonadotropic gonadal failure, progressive epilepsy with mental retardation, and, recently, carti...
Misfolding the key to protein's ability to kill brain cells
...ion diseases in humans may be hereditary
and linked to a genetic flaw or occur sporadically at the rate of about one case per million people. But the disease can also be contagious and spread like an infection. At least 93 peopl...
Treating precancerous breast cells may prevent onset of cancer
...s from patients with Li-Fraumeni syndrome (LFS), a hereditary
cancer predisposition syndrome associated with a number of childhood cancers and the early onset of breast cancer. Unlike most human cancer cells, LFS cells become cancerous at more measurable rates in vitro (a closed environment, e.g. test tube), a...
Researchers discover novel function of gene often associated with cancer
...r Bloom syndrome to be among the most cancer-prone hereditary
diseases known. Although the illness is rare, it f...in other members of this family can cause distinct hereditary
diseases, including Werner syndrome, in which patients experience accelerated aging. Although BLM is...
Iron overload gene tied to colon cancer increased risk
...dy are strongly associated with the development of hereditary
hemochromatosis, a condition characterized by iron overload and that leads to problems of the pancreas, liver, heart and other organs. The gene itself encodes a cellular signaling protein that plays a role in iron metabolism. "We don't fully underst...
Protein linked to movement disorders
...ene associated with early onset dystonia, a severe hereditary
movement disorder, normally helps manage protein f... in neuronal functioning. Almost half of all human hereditary
diseases, including dystonia and Parkinson's disease, have been linked to genetic components also fo...
BRCA2 mutations may be associated with some hereditary pancreatic cancers
...f the families had an increased incidence of other hereditary
cancer syndromes. The authors found that three (12%) of the families carried specific frameshift mutations in their BRCA2 gene. These mutations are predicted to result in a nonfunctional BRCA2 protein. In addition, two other families had BRCA2 genes...
Neurofibromin: It's so degrading
...atment of neurofibromatosis type I (NF1), a common hereditary
disease that results from mutations in the neurofi...atment of neurofibromatosis type I (NF1), a common hereditary
disease that results from mutations in the neurofibromin gene, as well as the ~30% of human tumors t...
Family communication about hereditary disease vital to prevention
...has been made in identifying genes associated with hereditary
forms of cancer, how a family communicates about hereditary
cancers may be just as important to preventing the disease or detecting persons who may be at risk, ...
Discovery may lead to first medical treatment for Celiac disease
... the first medical treatment for celiac disease, a hereditary
digestive disease that can damage the small intest... appear at any time in the life of a person with a hereditary
predisposition. Celiac disease is often misdiagnosed, symptoms are varied and there is no current m...
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