Genetic test results for Lynch syndrome often prove inconclusive, but two new studies show that two-thirds to three-fourths of genetic variants can be classified into categories that indicate the most appropriate screening and treatment guidelines.
Completing the second phase of the 1000 Genomes Project, a multinational team of scientists reports that they have sampled a total of 1092 individuals from 14 different populations and sequenced their full genomes. The researchers described the feat as a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so that a patient’s disease genome can be interpreted in a broader context.
By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.
“After five years of treatment, no trace of the disease can be detected in the liver of newborns who were treated starting from the first month of life – So shows our 25-year study.” – Dr. Grant Mitchell, CHU Ste-Justine and University of Montreal
• Researchers compared triple-negative breast cancer samples from African-American and East African women. • Ethnic-specific differences exist in genes expressed in breast cancer tissue. • Data may advance knowledge of genetic/genomic basis of breast cancer.
• Certain genetic variations exist only in African-Americans. • Some of these variations led to higher colorectal cancer risk. • One variant was linked to decreased risk for cancer of the left side of the colon.
A large international study has identified three new gene variants associated with body mass index (BMI) levels in adults. Genome scientists who led the study say the findings may provide fundamental insights into the biology of adult obesity.
The genes responsible for inherited diseases are clearly bad for us, so why hasn’t evolution, over time, weeded them out and eliminated them from the human genome altogether? Part of the reason seems to be that genes that can harm us at one stage of our lives are necessary and beneficial to us at other points in our development.
A large-scale analysis of Y chromosomes from more than 20,000 men finds that two spontaneously recurring deletions along a complex region of the Y chromosome are responsible for approximately 8% of cases of failed sperm production, according to Whitehead Institute researchers.
Whitehead Institute researchers report that common assumptions employed in the generation and interpretation of data from global gene expression analyses can lead to seriously flawed conclusions about gene activity and cell behavior in a wide range of current biological research.
A gene linked to the risk of developing Alzheimer’s, heart disease and diabetes becomes less important to quality of life once people hit their 90s, a Mayo Clinic study shows. At that point, good friends and a positive attitude have a bigger impact, the researchers say. The findings are published this month in the Journal of American Medical Directors Association.
Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they’ve discovered something new about the causes of intellectual disability in the process.
A new study from Johns Hopkins researchers suggests that the lethal spread of breast cancer is as dependent on a tumor’s protein-rich environment as on genetic changes inside tumor cells.
Decreased activity of a group of genes may explain why in young children the “fear center” of the anxious brain can’t learn to distinguish real threats from the imaginary, according to a new University of Wisconsin study.
The timely report provides a detailed and compelling overview of the landscape of next generation sequencing (NGS) technology and its clinical relevance and impact on improving patient care.
Researchers at Moffitt Cancer Center and colleagues at the University of South Florida; Duke University; Johns Hopkins University; the Brazilian National Cancer Institute; and the Rio de Janeiro Federal Institute of Education, Science and Technology have discovered that an intricate system to repair DNA damage called the “DNA damage response” (DDR) contains previously unknown components, including proteins that could be targeted as sensitizers for chemotherapy. Some of these targets may already have drugs available that have unrecognized uses in cancer therapy, said the researchers.
Researchers at the University of Illinois Hospital & Health Sciences System have identified a genetic signature that distinguishes patients with complicated sarcoidosis, an inflammatory lung disease that can be fatal, from patients with a more benign form of the disease. The gene signature could become the basis for a simple blood test.
• In the largest study of its kind, a variant within the multidrug resistance 1 (MDR-1) gene in kidney transplant donors was linked to a 69% increased risk for long-term failure of transplanted organs. • This variant affects the expression of the protein that the MDR-1 gene encodes, which pumps drugs out of cells. (Immunosuppressant drugs are critical for preventing organ rejection but are also toxic to the kidneys.)
Scientists have identified three neighboring genes that make soybeans resistant to the most damaging disease of soybean. The genes exist side-by-side on a stretch of chromosome, but only give resistance when that stretch is duplicated several times in the plant.
In the largest-ever genetic study of cholesterol and other blood lipids, an international consortium has identified 21 new gene variants associated with risks of heart disease and metabolic disorders.
A study suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought. In a second study, the researchers identified the molecular pathway in SMA that leads to problems with motor function. Findings from the studies, conducted in fruit fly, zebrafish and mouse models of SMA, could lead to therapies for this debilitating and often fatal neuromuscular disease. Both studies were published today in the online edition of the journal Cell.
A University of Adelaide researcher has published results that suggest a possible new mechanism to control multiple sclerosis (MS).
Columbia University Medical Center researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants that can contribute to the disease. The study, the largest and most comprehensive of its kind, was published today in the online edition of the journal Nature Genetics.
Engineers at the University of Texas at Dallas have used advanced techniques to make the material graphene small enough to read DNA. Shrinking the size of the graphene pore to less than one nanometer opens the possibility of graphene as a low-cost tool to sequence DNA.
Ateam of researchers from multiple institutions, including Gregory Frolenkov, of the University of Kentucky College of Medicine Department of Physiology, reported a novel type of gene associated with Usher syndrome.
Research published in the journal GENETICS links NF1, a known oncogene driver in other cancers, with more than 25% of breast cancers—an important finding during National Breast Cancer Awareness Month.
Research published in the journal GENETICS may lead to more protective flu vaccines by helping developers more accurately predict strains most likely to strike the population in the coming season.
These are the selected highlights for the October 2012 issue of the Genetics Society of America’s journal, GENETICS.
The 4th Annual Consumer Genetics Conference takes place this week, October 3-5 at the Boston Seaport Hotel. This unique interactive forum, will highlight three major themes regarding this burgeoning industry: Technology (Day 1), Business & Translation (Day 2) and Applications (Day 3). Presentations will specifically cover a variety of topics including: personal genomics, next and third generation sequencing, molecular diagnostics, industry funding and investment, and the current and future applications of genomics in clinical practices and as well as in nutrition, food genetics and cosmetics.
New research from UNC has established a new link between two fundamental epigenetic tags -- histone H3 lysine 9 methylation and DNA methylation -- in humans.
Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.
Scientists may be one step closer to predicting the uncertain course of relapsing-remitting multiple sclerosis (MS), a disease that can lay dormant for months or years, thanks to the discovery of a unique genetic marker. The marker, detailed by researchers in the August edition of The Journal of Immunology, is the first of its kind to be directly linked to MS.
Rapid-onset dystonia-parkinsonism (RDP) is caused by a genetic mutation that often runs in families. Now Wake Forest Baptist Medical Center researchers believe that same genetic predisposition might also be associated with psychiatric problems, such as anxiety, mood disorders and substance abuse/dependence.
Male DNA is commonly found in the brains of women, most likely derived from prior pregnancy with a male fetus, according to first-of-its-kind research conducted at Fred Hutchinson Cancer Research Center. While the medical implications of male DNA and male cells in the brain are unknown, studies of other kinds of microchimerism – the harboring of genetic material and cells that were exchanged between fetus and mother during pregnancy – have linked the phenomenon to autoimmune diseases and cancer, sometimes for better and other times for worse.
AMP v USPTO case challenges patents as dangerous roadblock to patient care, medical Innovation.
Study explores psychosocial implications related to relationships, marriage and childbearing.
Researchers in the Taub Institute at Columbia University Medical Center have identified a mechanism that appears to underlie the common sporadic (non-familial) form of Parkinson’s disease, the progressive movement disorder. The discovery highlights potential new therapeutic targets for Parkinson’s and could lead to a blood test for the disease. The study, based mainly on analysis of human brain tissue, was published today in the online edition of Nature Communications.
Cancer researchers studying 44 known genetic variants associated with breast cancer have found the way to identify why they increase cancer risk, opening the door to future therapeutic applications based on personalized medicine.
A new study by Dr. Benjamin J. Luft of Stony Brook University School of Medcicine and colleagues will explore the role genetics may play in the development of PTSD and respiratory illness in 9/11 WTC responders.
Biologists at UC San Diego have unraveled the anti-viral mechanism of a human gene that may explain why some people infected with HIV have much higher amounts of virus in their bloodstreams than others.
Mayo Clinic researchers and an international team of scientists have developed a highly-efficient means of editing zebrafish genomes for research purposes, eliminating a bottleneck that has stymied biomedical scientists from using the fish as a model for human disease.
ew mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.
Genome-wide epigenomic screening can pinpoint disease-associated variants and identify novel genetic–epigenetic interactions in autoimmune thyroid diseases, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.
New mouse models can help scientists study MCT8 deficiency, an inherited genetic disorder affecting children, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.
Loss of function in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene causes central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to data presented at the 82nd Annual Meeting of the American Thyroid Association in Québec City, Québec, Canada.
A genetic mutation that occurred thousands of years ago might be the answer to how early humans were able to move from central Africa and across the continent in what has been called “the great expansion,” according to new research from Wake Forest Baptist Medical Center.
Biologists and informaticists at Indiana University have produced one of the most extensive pictures ever of mutation processes in the DNA sequence of an organism, elucidating important new evolutionary information about the molecular nature of mutations and how fast those heritable changes occur.
In children with Autism Spectrum Disorders (ASD), a common gene mutation has been found to impact the network of connections between different areas of the brain involved in social behavior, such as recognizing the emotions shown on people’s faces.
Advancements in sequencing and diagnostics technology are the underlying elements driving the genomic revolution. With the free-falling cost of sequencing, richer reference data and improved interpretation methods, the use of personal genomics is beginning to take greater root in clinical practice.
Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis.
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