Tag: "inherited" at medical news
Fifteen-year hunt uncovers gene behind 'pseudothalidomide' syndrome
...ture Genetics , proves that genes behind very rare inherited
diseases can now be found, offering excellent opportunities to strengthen understanding of craniofacial and limb development, health and disease beyond the rare disease itself, say the researchers. Because of advances in technology and computer anal...
Late-breaking science presented at 57th AAN Annual Meeting
...enia, a white blood cell disorder, was found to be inherited
along with the disease, which has not been seen in CMT families before. The same protein function that is impaired by the mutation--the ability to bind a high-energy molecule called CTP--is also impaired by other CMT gene mutations, suggesting this m...
New treatment for hereditary breast cancer
...t breast tumours from forming, but some women have inherited
mutations in these genes, giving them about an eighty per cent risk of developing breast cancer. Normal cells replicate by dividing DNA into two strands and copying each strand. Before replication, damage in the DNA is usually repaired using a prote...
Researchers develop 'genetic blueprint' to predict response to esophageal cancer treatments
... response to radiation treatment. Patients who had inherited
less effective variants of a base excision repair gene (XRCC1) that repairs DNA damage from radiation exhibited longer survival. Those with the GG variant had a median survival of more than 57 months, compared to almost 23 months for patients with a ...
Study sheds light on age-related changes of prion diseases
...n proteins may experience age-related mutations in inherited
diseases. Researchers at the Case Western Reserve...in in members of an extended family in Indiana who inherited
the prion disease Gerstmann-Straussler-Sheinker (GSS). GSS is a familial disease that causes movemen...
Fatal brain disease holds clues to dementia
...tore memory. Huntington's disease is an incurable, inherited
disorder of the nervous system that affects specific brain regions and inevitably leads to death. Symptoms range from disrupted control of movements and thought processes, and emotional problems. These include: jerky arm or leg movements; difficultie...
American Academy of Neurology sums up scientific highlights from 57th annual meeting
... all Parkinson's cases, and six percent or more of inherited
forms. [S17.001] Dementia Donepezil is commonly prescribed for the dementia of Alzheimer's disease. In a large, multi-year study, researchers showed donepezil can also temporarily slow the transition from mild cognitive impairment for a period of u...
Study of iron overload yields surprising results
...mericans. Hemochromatosis, one of the most common inherited
disorders among Caucasians, can lead to iron overload, or a buildup of iron in the body's organs. This extra iron, which can be easily treated if detected early, can increase the risk of diabetes, arthritis, sexual dysfunction, liver disease and live...
Rush designated Center of Excellence by Huntington's Disease Society of America
...amily grows. Huntington's disease is a devastating inherited
disease, but we are poised on the threshold of dis...sease and its symptoms. Huntington's Disease is an inherited
degenerative disease that progressively robs patients of the ability to think, judge appropriately, ...
Northwestern's cancer genetics program ID's gene variant that increases colon cancer risk
...n nearly one in eight people and the most commonly inherited
cancer susceptibility gene identified so far migh...sing two identical forms of a particular gene, one inherited
from each parent) is associated with a particularly high risk of colorectal cancer. Colorectal cance...
Mayo Clinic first to use pharmacogenomics to treat inherited kidney disorder of children
...acogenomics to develop a test and treatment for an inherited
kidney disorder that can cause organ failure in children and young adults. The findings appear in the current issue of the journal Kidney International ( http://www.blackwell-synergy.com/links/doi/10.1111/j.1523-1755.2005.00267.x/full/ ). Pharmacoge...
Autism conference reports advances in early diagnosis, role of immune system and more
...dition. Some of these genes may be responsible for inherited
traits that by themselves do not cause autism, but may be associated with it. These traits, called endophenotypes, can be behavioral or biological. Scientists are identifying such traits in the family members of autistic children. "As we identify end...
Umbilical cord-blood transplants save lives of babies with rare genetic disorder
...t for newborns with infantile Krabbe's disease, an inherited
degenerative disorder that affects the nervous system, said Kurtzberg. Most infants with the disease die before reaching age 2.In addition, Kurtzberg added, the study adds to a growing body of evidence that cord blood can save children with other "ly...
UNC launches study of liver injury caused by drugs
...enter at UNC."This is the only way we can identify inherited
and other factors that explain why a particular patient is susceptible when most are not," he said. Researchers will use DNA analysis based on blood samples to identify possible genetic risk factors for such liver injury. "Once a drug has been asso...
In those genetically predisposed, 'developmental reprogramming' could explain cancer risk
... It could explain, for example, why some women who inherited
BRCA1/2 gene defects develop breast cancer as adul...trogen, which led to cancer when the animal had an inherited
genetic defect. In that way, DES had changed the "penetrance," or likelihood of causing cancer, of t...
Investigating 'brain shrinkage' in alcoholics
...here is accumulating evidence that the generalized inherited
vulnerability to alcoholism and other addictions i...e of the symposium co-presenters. "People with an inherited
vulnerability to addiction, including alcoholism, are much more affected by immediate than delayed r...
Genetically modified cells migrate to brain and treat neurodegeneration in St. Jude model
...o previously showed that GM1 gangliosidosis is an inherited
disease in which one of the enzymes in the lysosomes is defective (Molecular Cell, Sept. 10, 2004; www.stjude.org/media/0,2561,453_5297_12276,00.html ). Lysosomes are the cell's recycling centers, where proteins, fats and other molecules are broken ...
Children's Hospital Oakland new sickle cell research
...ase, but in thalassemia (Cooleys anemia) and other inherited
anemias," said Elizabeth G. Nabel, M.D., director of the National Heart, Lung, and Blood Institute, which co-funded the research. Dr. Morris and her colleagues published their conclusions after a four-year study of 228 sickle cell patients and 36 con...
Genomics researchers discover protein deficit that causes drug toxicity
...inn. -- Mayo Clinic researchers have discovered an inherited
structural mechanism that can make drugs for some diseases toxic for some patients. The mechanism decreases a protein and in turn causes certain individuals to metabolize thiopurine drugs differently. Thiopurine therapies are used to treat patients w...
...tient with chronic granulomatous disease (CGD), an inherited
disorder in which neutrophils cannot produce oxidants and infections are common, as well as in mice engineered to possess the same genetic mutation. Without the oxidant assault, the ability of the nonpigmented strain to resist neutrophil killing and...
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