News tagged with gene mutation

Related topics: genes , breast cancer , mutations , ovarian cancer , cancer cells




First gene linked to common form of psoriasis identified

Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.

Genetics created Apr 19, 2012 | popularity 5 / 5 (5) | comments 0 | with audio podcast

Report supports tackling tobacco consumption, improving vaccination access to reduce global cancer burden

Combating the tobacco industry's tactics in the world's poorest countries as well as ensuring the best cancer vaccines are available to those most in need are key in order to reduce the number of cancer deaths worldwide, ...

Cancer created Mar 07, 2013 | popularity not rated yet | comments 0 | with audio podcast

Cancer researchers discover gene defect responsible for cancer syndrome

University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical ...

Cancer created Sep 06, 2012 | popularity not rated yet | comments 0

In pilot study, a peptide controls blood sugar in people with congenital hyperinsulinism

A pilot study in adolescents and adults has found that an investigational drug shows promise as the first potential medical treatment for children with the severest type of congenital hyperinsulinism, a rare but potentially ...

Diabetes created Aug 01, 2012 | popularity not rated yet | comments 0

Study reveals young women with the BRCA mutation feel different and misunderstood

(Medical Xpress)—A study authored by Rebekah Hamilton, RN, PhD, associate dean of the Rush University College of Nursing, found that young women with a BRCA1 and BRCA2 gene mutation felt different and misunderstood.

Cancer created Sep 26, 2012 | popularity not rated yet | comments 0

Mutations in autism susceptibility gene increase risk in boys

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

Autism spectrum disorders created Jul 12, 2012 | popularity 4.7 / 5 (3) | comments 0 | with audio podcast

Mapping genes: Study finds new risk factors for neurodegenerative diseases

Using a new and powerful approach to understand the origins of neurodegenerative disorders such as Alzheimer's disease, researchers at Mayo Clinic in Florida are building the case that these diseases are primarily caused ...

Genetics created Jun 07, 2012 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Exome sequencing: Potential diagnostic assay for unexplained intellectual disability

Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented on Nov. 8 at the American Society of Human Genetics 2012 meeting in San Francisco.

Genetics created Nov 08, 2012 | popularity 5 / 5 (1) | comments 0

Scientists identify mutation that causes skin hyperproliferation

Scientists have identified a mutation in a gene that causes patches of very thick skin to appear on the palms and soles of affected people. This skin disorder is related, albeit in a much milder form, to ...

Genetics created Oct 18, 2012 | popularity not rated yet | comments 0

Diet may treat some gene mutations

Scientists have moved a step closer to correcting some unhealthy gene mutations with diet, according to a new research report appearing in the April 2012 issue of the journal Genetics. Researchers from the University of Cal ...

Genetics created Apr 09, 2012 | popularity not rated yet | comments 0 | with audio podcast

Genome-wide analysis shows previously undetected abnormalities in parents of affected children

The use of genome-wide array analysis in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands ...

Genetics created Jun 24, 2012 | popularity 3 / 5 (1) | comments 0

The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'

Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics ...

Cancer created Jul 02, 2012 | popularity not rated yet | comments 0

Insights into a new therapy for a rare form of cystic fibrosis

Scientists at the Hospital for Sick Children in Toronto have established that a drug recently approved by the U.S. Food and Drug Administration to treat a rare form of cystic fibrosis works in an unconventional way. Their ...

Medical research created Oct 29, 2012 | popularity not rated yet | comments 0

New drug shrinks brain tumours in melanoma patients

(Medical Xpress) -- Australian researchers have reported promising results with a new drug that shrinks brain tumours in melanoma patients. Their findings are published in The Lancet medical journal today. ...

Cancer created May 21, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

'Unknown' neurological disorder often incorrectly diagnosed

The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...

Neuroscience created Apr 10, 2013 | popularity not rated yet | comments 0