Feature Channels: Genetics

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The Association for Molecular Pathology (AMP) participated in the Food and Drug Administration (FDA) Center for Devices and Radiological Health (CDRH) public meeting on the oversight of laboratory developed tests (LDTs). Dr. Karen Mann, President of AMP, served on the second panel of the meeting titled, Clinical Laboratory Challenges. Additionally, Dr. Elaine Lyon, Chair of the AMP Professional Relations Committee, presented public comments.

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The latest C.S. Mott Children's Hospital National Poll reveals that most parents are interested in at-home personal genetic testing for their kids. However, personal genetic testing of children creates medical, ethical and legal challenges that go beyond the current discussion about the regulation of these tests.

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Down syndrome is a well known cause of mental retardation and other medical problems, including early onset of Alzheimer disease. It has long been known that Down syndrome is associated with an individual having an additional copy of chromosome 21. Research findings reported in the July 18 advanced online publication of Nature Neuroscience have narrowed down the critical genetic elements responsible for some aspects of Down syndrome.

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An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants. They also suggest a potential remedy that would involve a simple, daily dietary supplement.

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There's adequate research data to support population screening of women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

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A landmark study by Florida State University biologists, in collaboration with scientists in Britain, is the first to identify a life-or-death “cell competition” process in mammalian tissue that suppresses cancer by causing cancerous cells to kill themselves.

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In the largest study of its kind, researchers at the Southwest Foundation for Biomedical Research (SFBR) have found that exposure to cigarette smoke can alter gene expression -- the process by which a gene's information is converted into the structures and functions of a cell. These alterations in response to smoking appear to have a wide-ranging negative influence on the immune system, and a strong involvement in processes related to cancer, cell death and metabolism.

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A genetic variant implicated in several cancers by genome-wide association studies (GWAS) has been found to drive increased expression of a known oncogene in the prostate.

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University of Michigan researchers identified a gene mutation that causes auditory neuropathy. The discovery was made using a combination of genomic approaches.

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By inspecting the sequence of all 3 billion “letters” that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

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Geisinger researchers are part of an international team that has identified a genetic variant more common in individuals with abdominal aortic aneurysms (AAA). This is one of the largest studies ever into the genetics of AAA.

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Report documents the status of cotton seed collections across eight countries.

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It has been a basic principle of evolution for more than a century that plants and animals can adapt genetically in ways that help them better survive and reproduce. Now, in a paper to be published in the journal Science, University of Rochester biologist John Jaenike and colleagues document a clear example of a new mechanism for evolution.

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Researchers from Mount Sinai School of Medicine have identified a previously unknown mechanism by which cells direct gene expression, the process by which information from a gene is used to direct the physical and behavioral development of individuals.

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Scientists have designed a nanoparticle that appears to effectively deliver genetic material into cells with minimal toxic effects.

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Don’t put down the red wine and vitamins just yet, but if you’re taking antioxidants because you hope to live longer, consider this: a new study published in the June 2010 issue of the journal GENETICS casts doubt on the theory that oxidative stress to our tissues shortens lifespan. That’s because researchers from McGill University in Canada have identified mutations in 10 different genes of worms (genes believed to have counterparts in humans) that extend their lifespan without reducing the level of oxidative stress the worms suffer. The results contradict the popular theory that production of toxic reactive oxygen species in tissues is responsible for aging.

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Tufts Assistant Professor of Biology Mitch McVey and his research team report that DNA polymerase theta, or PolQ, promotes an inaccurate repair process for double-strand breaks, which can ultimately cause mutations, cell death or cancer. Findings have potential to advance development of new cancer drugs.

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With more than 100 billion neurons and billions of other specialized cells, the human brain is a marvel of nature. It is the organ that makes people unique.

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Cells from frozen human blood samples can be reprogrammed to an embryonic stem-cell-like state, according to Whitehead Institute researchers. These cells can be multiplied and used to study the genetic and molecular mechanisms of blood disorders and other diseases.

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Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.

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An international team co-led by scientists from the University of Michigan have discovered 12 more regions on the genome with DNA variants that are associated with increased risk of type 2 diabetes, bringing the number to 38.

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A team of Columbia-led investigators has uncovered eight genes that underpin alopecia areata, one of the most common causes of hair loss, as reported in a paper in the July 1 issue of Nature. This discovery may soon lead to new treatments for the 5.3 million Americans suffering from hair loss caused by alopecia areata.

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Member of National Alopecia Areata Foundation Scientific Advisory Council answers key questions on one of the most prevalent autoimmune diseases.

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Today, the Association for Molecular Pathology (AMP) presented comments at the US Food & Drug Administration’s public meeting on array-based cytogenetic tests. The FDA convened the meeting to seek answers to more than a dozen questions they had on how to evaluate the performance, interpret results and report findings of array-based cytogenetic tests for copy number variation (CNV).

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Whitehead Institute Founding Member Gerald Fink has been awarded the 2010 Genetics Prize of The Peter and Patricia Gruber Foundation for his groundbreaking research in yeast genetics.

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Yesterday, the Association for Molecular Pathology (AMP) submitted comments on the Draft Report of the Secretary’s Advisory Committee on Genetics, Health, and Society on Genetics Education and Training of Health Care Professionals, Public Health Providers, and Consumers.

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A gene that encodes a protein responsible for determining whether certain immune cells live or die shows subtle differences in some people with asthma, a team led by Johns Hopkins researchers reports in the June European Journal of Human Genetics.

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AMP commends the Federal departments and agencies that compose the Council on Medical Device Innovation for making efforts to identify and remove barriers to innovation and progress in transitioning basic and transitional research findings into routine clinical practice. In its remarks, AMP identified three barriers that impede the path to FDA clearance or approval for diagnostic tests and reduce the motivation to submit some medically useful tests for review.

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Mapping rare white clover leaf traits to improve breeding new cultivars.

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In what is believed to be the largest review of the human genetic code to determine why some people’s blood platelets are more likely to clump faster than others, scientists at Johns Hopkins and in Boston have found a septet of overactive genes, which they say likely control that bodily function.

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In the journal Chaos, which is published by the American Institute of Physics (AIP), scientists at the University of Alabama at Birmingham report powerful new techniques for studying the phenotypes related to genetic differences in the budding yeast, Saccharomyces cerevisiae.

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Using a newly applied scientific technique, researchers at the Keck School of Medicine of the University of Southern California (USC) have reached surprising findings about the role of nature versus nurture in the development of the neural circuits in the auditory cortex, the area of the brain that is responsible for processing information about sound.

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Today, the Association for Molecular Pathology (AMP) presented public comments to the Secretary’s Advisory Committee on Genetics, Health and Society (SACHGS) meeting focused on whole genome sequencing. In anticipation of advances in sequencing and its incorporation into clinical practice, AMP raised ethical and laboratory practice concerns for the Committee’s consideration.

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By unlocking the genetic secrets of sorghum, Agricultural Research Service (ARS) scientists have found a way to make one of the world’s most important cereal crops a better option for growers.

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In the June Anesthesiology researchers take aim at identifying genetic risk factors for sepsis – a leading cause of death for critically ill patients.

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The p53 gene has been a well-documented player in the prevention of tumors and is considered the most frequently mutated gene in human tumors. These mutations often can be caused by disruption in normal p53 function. A team of investigators, including those from New Jersey’s only National Cancer Institute-designated Comprehensive Cancer Center, has identified a mechanism that interrupts normal p53 function, thus causing negative impact which can lead to tumor development.

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Nuclear pores are the primary gatekeepers mediating communication between a cell's nucleus and its cytoplasm. Recently these large multiprotein transport channels have also been shown to play an essential role in developmental gene regulation. Despite the critical role in nuclear function, however, nuclear pore complexes remain somewhat shadowy figures, with many details about their formation shrouded in mystery.

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An international consortium of researchers from more than 70 universities, including the University of Utah, has reported that a study of nearly 2,300 people supports the growing consensus that autism is caused in part by rare genetic changes called copy number variants (CNVs).

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University of Illinois at Chicago researchers are part of an international consortium reporting new autism genetic discoveries from the second phase of the Autism Genome Project.

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One in 25 people from India and other south Asian countries carries a mutated gene that causes heart failure. Studying this gene, and the protein it encodes, could lead to new treatments for heart failure.

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Prostate cancer has become more common in younger men, and it’s often more aggressive in these men. A new study from researchers at the University of Michigan Comprehensive Cancer Center has found that a series of genetic mutations could help detect this early onset prostate cancer.

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A Johns Hopkins and Japanese research team has generated the first comprehensive genetic “parts” list of a mouse hypothalamus, an enigmatic region of the brain — roughly cherry-sized, in humans — that controls hunger, thirst, fatigue, body temperature, wake-sleep cycles and links the central nervous system to control of hormone levels.

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Using sophisticated genetic analysis, scientists at Albert Einstein College of Medicine of Yeshiva University and New York University School of Medicine have published a study indicating that Jews are a widely dispersed people with a common ancestry. Jews from different regions of the world were found to share many genetic traits that are distinct from other groups and that date back to ancient times.

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Through the use of sophisticated genomic analysis, researchers at NYU Langone Medical Center have found that the genetic influences of the Jewish people have retained their genetic coherence, as well as their cultural and religious traditions, even as Jewish communities migrated from the Middle East into Europe, North Africa and across the world according to a new study in the American Journal of Human Genetics.

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Using high-throughput sequencing to map the locations of a common type of jumping gene within a person’s entire genome, researchers found extensive variation in these locations among the individuals they studied, further underscoring the role of these errant genes in maintaining genetic diversity.

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Scientists have learned how a gene controls cell division, a finding that could be useful for understanding why increasing numbers of children are being born with genital malformations.

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Genetic abnormalities are most often discussed in terms of differences so miniscule they are actually called “snips” — changes in a single unit along the 3 billion that make up the entire string of human DNA.

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The work, co-led by geneticists at the University of California, San Diego Institute for Genomic Medicine, together with colleagues from institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening.

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Consumer Genetics Conference to convene experts in Boston June 2-4 to discuss best practices, challenges and advancements in the field of DTC genetic testing and personalized medicine.

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Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.