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Last Updated:
Tue, 14 May 2013, 14:21 GMT
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Health News - Genetics

Returning Genetic Incidental Findings Without Patient Consent Violates Basic Rights
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics... (Medical News Today)

Among Patients Carrying BRCA Mutations, PARP Inhibitor Shows Activity In Pancreatic, Prostate Cancers
In the largest clinical trial to date to examine the efficacy of PARP inhibitor therapy in BRCA 1/2 carriers with diseases other than breast and ovarian cancer, the oral drug olaparib was found to be effective against advanced pancreatic and prostate cancers... (Medical News Today)

Ten-Year Study Shows 2 Different Genetic Polymorphisms Predict Weight Gain In Men And Women
New research presented at this year's European Congress on Obesity (ECO) in Liverpool, UK, shows that while the FTO genetic variation predicts weight gain over 10 years in men, a different variation on the MMP2 gene predicts weight gain in women... (Medical News Today)

Safeguarding Personal Privacy When Collecting DNA For Human Rights
DNA databases might help identify victims of crime and human trafficking, but how do we safeguard the personal privacy of innocent victims and family members? A new report online in the Cell Press journal Trends in Genetics identifies a number of key challenges to consider as experts develop such programs... (Medical News Today)

Potential For Future Heart Disease Treatment Following Identification Of 4 Genes That Influence Levels Of 'Bad' Cholesterol
Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the risk of heart disease... (Medical News Today)

The Role Of Double-Stranded RNA In Antiviral Host Defense Systems
Animals, insects, and plants use a variety of sensing mechanisms to detect invading pathogens such as viruses. One complex and effective antiviral defense system they share is based on recognition of double-stranded RNA (dsRNA), often produced when a virus invades a host cell... (Medical News Today)

Blocking The Protein-Protein Interaction Which Causes Ewing Sarcoma
Continuous infusion of a novel agent not only halted the progression of Ewing sarcoma in rats, while some tumors also regressed to the point that cancer cells could not be detected microscopically, say researchers at Georgetown Lombardi Comprehensive Cancer Center... (Medical News Today)

Molecular Profiling Timely For Tailoring Cancer Therapy
A clinical trial has shown that patients, and their physicians, are eager to jump into next-era cancer care - analysis of an individual's tumor to find and target genetic mutations that drive the cancer. Results of the study, CUSTOM, are being presented at the 2013 annual meeting of the American Society of Clinical Oncology* years before investigators thought they would be ready... (Medical News Today)

Study Findings May Offer New Way To Kill Cancer Cells By Forcing Them Into An Alternative Programmed Death Pathway
When cells suffer too much DNA damage, they are usually forced to undergo programmed cell death, or apoptosis. However, cancer cells often ignore these signals, flourishing even after chemotherapy drugs have ravaged their DNA... (Medical News Today)

Better Understanding Of Cells' Development Has Implications In Study Of Inflammatory Diseases
Labs around the world, and a core group at Penn, have been studying recently described populations of immune cells called innate lymphoid cells (ILCs). Some researchers liken them to foot soldiers that protect boundary tissues such as the skin, the lining of the lung, and the lining of the gut from microbial onslaught... (Medical News Today)

How One Notch Family Protein, Notch2, Shapes An Eye Structure
A small ensemble of musicians can produce an infinite number of melodies, harmonies and rhythms. So too, do a handful of workhorse signaling pathways that interact to construct multiple structures that comprise the vertebrate body... (Medical News Today)

Researchers Mine The Botulinum Genome In The Hope Of Disarming This Deadly Foe
The toxin that causes botulism is the most potent that we know of. Eating an amount of toxin just 1000th the weight of a grain of salt can be fatal, which is why so much effort has been put into keeping Clostridium botulinum, which produces the toxin, out of our food... (Medical News Today)

Inhibiting Powerful Protein With New Agents May Supply Broad Benefit For Lymphoma Patients
A soon-to-be-tested class of drug inhibitors were predicted to help a limited number of patients with B-cell lymphomas with mutations affecting the EZH2 protein. However, a research team, led by investigators at Weill Cornell Medical College, now report that these agents may, in fact, help a much broader cross section of lymphoma patients... (Medical News Today)

The Sequencing Of The Genome Of The 'Sacred Lotus' May Release Anti-Aging Secrets
A team of 70 scientists from the U.S., China, Australia and Japan reports having sequenced and annotated the genome of the "sacred lotus," which is believed to have a powerful genetic system that repairs genetic defects, and may hold secrets about aging successfully... (Medical News Today)

Possible New Acute Leukemia Marker Treatment Target Identified
A study has identified microRNA-155 as a new independent prognostic marker and treatment target in patients with acute myeloid leukemia that has normal-looking chromosomes under the microscope (that is, cytogenetically normal acute myeloid leukemia, or CN-AML). The study was led by researchers at the Ohio State University Comprehensive Cancer Center - Arthur G... (Medical News Today)

Angelina Jolie Has Double Mastectomy Because Of 87% Breast Cancer Risk
Actress Angelina Jolie, who carries a mutation in her BRCA1 gene, announced that she has had a double mastectomy. Women who carry a BRCA1 or BRCA2 mutation have a significantly higher risk of developing breast and ovarian cancers. According to Angelina Jolie, her lifetime risk of developing breast cancer before having her breasts surgically removed was 87%... (Medical News Today)

Disease-In-A-Dish Models Show Promise For Treating Ataxia Telangiectasia
Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T)... (Medical News Today)

Identification Of Gene Associated With Adolescent Idiopathic Scoliosis
Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian populations. The gene is involved in the growth and development of the spine during childhood. Their study is published today in the journal Nature Genetics... (Medical News Today)

A Step Closer To Understanding What Causes Congenital Heart Disease
Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart... (Medical News Today)

Defects In Developmental Pathway Associated With Congenital Condition Of Heart-Lung Connection Or Blue-Baby Syndrome
Total anomalous pulmonary venous connection (TAPVC), one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left atrium of the heart. This results in poorly oxygenated blood throughout the body, and TAPVC babies are born cyanotic - blue-colored - from lack of oxygen... (Medical News Today)

4 New Genetic Risk Factors Identified For Testicular Cancer
A new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania... (Medical News Today)

Genome-Sequencing Diagnostics For Rare Diseases: A Cautionary Tale
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars... (Medical News Today)

Link Suggested Between Tumor Suppressors And Starvation Survival
A particular tumor suppressor gene* that fights cancer cells does more than clamp down on unabated cell division -- the hallmark of the disease -- it also can help make cells more fit by allowing them to fend off stress, says a University of Colorado Boulder study... (Medical News Today)

10% Of Congenital Heart Disease Not Inherited From Parents
Ten percent of babies born with congenital heart disease have genetic mutations that occurred while they were in the womb, i.e. they did not inherited the genetic mutations from their parents, researchers reported in the May 12th issue of the journal Nature. Thousands of children are born annually with severely malformed hearts... (Medical News Today)

Egg Genome Is Reprogrammed To Match Sperm's With Or Without A Paternal Genome
Researchers from Huntsman Cancer Institute (HCI) at the University of Utah have discovered that while the genes provided by the father arrive at fertilization pre-programmed to the state needed by the embryo, the genes provided by the mother are in a different state and must be reprogrammed to match. The findings have important implications for both developmental biology and cancer biology... (Medical News Today)

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