Gene Mutation Current Events | Gene Mutation News | 7
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Penn researchers report that gene therapy awakens the brain despite blindness from birth
Researchers at the University of Pennsylvania have demonstrated that gene therapy used to restore retinal activity to the blind also restores function to the brain's visual center, a critical component of seeing. view more (2007-06-26)
Discovery of new gene for rare nerve disease may help doctors understand more common illnesses
A multi-national research team that includes a Saint Louis University neurologist has discovered a gene mutation that causes a rare form of Charcot-Marie-Tooth disease, an inherited progressive nerve disorder. view more (2006-01-31)
'1-hit' event provides new opportunity for colon cancer prevention, say Fox Chase researchers
More than 30 years ago, Alfred Knudson Jr., M.D., Ph.D., revolutionized the field of cancer genetics by showing that a person must lose both their paternal and maternal copies of a particular class of cancer-inhibiting genes, called tumor-suppressor genes, in order to develop cancer. view more (2008-09-15)
Searching for shut eye: Penn study identifies possible sleep gene
While scientists and physicians know what happens if you don't get six to eight hours of shut-eye a night, investigators have long been puzzled about what controls the actual need for sleep. Researchers at the University of Pennsylvania School of Medicine might have an answer, at least in fruit flies. In a recent study of fruit flies, they... view more... (2008-07-30)
Severe mental retardation gene mutation identified
Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics. view more (2007-03-20)
No test needed for hand-foot genital syndrome in women without HOXA13 gene mutation
Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, and colleagues have found that women without mutations of the HOXA13 gene do not need to be subjected to x-rays and other tests for a rare condition called hand-foot genital syndrome. view more (2009-10-20)
Use of breast MRI can be cost-effective for some women at high-risk of breast cancer
A computer model simulation suggests that adding breast MRI screening may be cost-effective for women of certain ages who carry BRCA1 and BRCA2 gene mutations. view more (2006-05-24)
SPECIFIC GENE MUTATION LINKED TO CROHN'S DISEASE (pp 1902, 1925)
Genetic susceptibility to Crohn's disease is likely to be the result of an insertion mutation into a specific gene on chromosome 16, conclude authors of a fast-track study published in this week's issue of THE LANCET. In 1996, genetic linkage of inflammatory bowel disease (IBD) to chromosome 16 was established. The recently identified NOD2 gene... view more... (2001-06-13)
Diet a major factor in breast cancer - time for government action
Hamburg, Germany: The rapid increase in the knowledge of breast cancer determinants and the continuing increase in incidence of breast cancer means that it is time to move from knowledge to action, a scientist said today (Friday 19 March) at the 4th European Breast Cancer Conference. Dr. Franco Berrino, head of preventive and predictive medicine... view more... (2004-03-17)
Mutations in the insulin gene can cause neonatal diabetes
Mutations in the insulin gene can cause permanent neonatal diabetes, an unusual form of diabetes that affects very young children and results in lifelong dependence on insulin injections. view more (2007-09-11)
Mutation protects from HIV - and increases risk of hepatitis C
More than 40 million people worldwide are infected with the human immunodeficiency virus HIV. In Africa alone this incurable immune deficiency caused more than two million deaths last year. Yet some people are resistant to infection: the reason for this is a mutation in their DNA which prevents the HIV virus from invading certain immune cells and... view more... (2002-07-17)
Genetic mutation increases risk of preterm birth
Genetic mutations in the Toll-like receptor 4 (TLR4) gene appear to have significant association with inflammatory injury to the placenta and developing baby, researchers from the University of Pittsburgh's department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine view more (2008-02-04)
Study reveals why certain ovarian cancers develop resistance to platinum-based chemotherapy
A team of researchers led by Fred Hutchinson Cancer Research Center has identified a new mechanism that explains why some recurrent ovarian tumors become resistant to treatment with commonly used platinum-based chemotherapy drugs such as cisplatin and carboplatin. They describe their research online Feb. 10 in the journal Nature. view more (2008-02-11)
Scientists identify fundamental brain defect, probable drug target in fragile X syndrome
Scientists have discovered how the gene mutation responsible for fragile X syndrome--the most common inherited form of mental retardation--alters the way brain cells communicate. view more (2007-09-18)
New insights into progressive hearing loss
In parallel studies in human and mouse, two groups of researchers have come to the same conclusion: that a new kind of gene is associated with progressive hearing loss. view more (2009-04-13)
Gene for immune deficiency syndromes found
A newly discovered gene mutation may account for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID), report researchers in the July issue of Nature Genetics. The discovery may lead to a new diagnostic test for these conditions, which make people highly... view more... (2005-07-11)
Removal of ovaries decreases risk of certain cancers for women at high-risk
Women with mutations in the BRCA1 or BRCA2 genes can significantly reduce their risk of certain types of cancer by having their ovaries removed. view more (2006-07-12)
First noninvasive technique to accurately predict mutations in human brain tumors
Donald O'Rourke, MD, Associate Professor of Neurosurgery at the University of Pennsylvania School of Medicine and colleagues, were able to accurately predict the specific genetic mutation that caused brain cancer in a group of patients studied using magnetic resonance imaging (MRI). view more (2009-04-21)
New gene associated with Fanconi anemia 'explains' hallmark chromosomal instability
Surprising findings from just five patients has led to the first proof of how the rare disorder Fanconi anemia causes chromosomal instability. view more (2005-08-22)
Forced evolution: Can we mutate viruses to death?
It sounds like a science fiction movie: A killer contagion threatens the Earth, but scientists save the day with a designer drug that forces the virus to mutate itself out of existence. The killer disease? Still a fiction. The drug? It could become a reality thanks to a new study by Rice University bioengineers. view more (2008-11-11)
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