At least 60 genetic diseases called neurocutaneous disorders involve the skin, central nervous system, and/or peripheral nervous system, Loyola University Medical Center neurologists report.
As countries around the world seek to craft policy frameworks governing the powerful new genetic editing tool, policy makers need to determine 'thresholds of acceptability' for using the technology, according to three researchers from the Centre of Genomics and Policy at McGill University.
By harnessing the most advanced data-mining tools, Jackson Laboratory Professor Carol Bult is leading the hunt for suspect genes that contribute to a common, deadly birth defect.
Using a new computer science approach, researchers at University of California, San Diego School of Medicine, Columbia University and Stanford University discovered a distinctive molecular feature — a biomarker — that identified colon cancer patients who were most likely to remain disease-free up to five years after surgery. The biomarker, a protein called CDX2, also helped the researchers identify Stage II colon cancer patients who are most likely to benefit from chemotherapy after surgery.
Building on a 30-year, three-generation study of depressed individuals, their children and offspring, a study provides a better understanding of the familial risk for depression and the role neuroplasticity might have in increasing the risk of developing depression.
A single injection. That’s all someone with a factor VII deficiency would need for a life-long cure, thanks to a new gene therapy treatment developed in a collaboration of researchers at the University of North Carolina (UNC) and The Children’s Hospital of Philadelphia (CHOP).
This finding is key as UF/IFAS and other agencies conduct studies involving citizen scientists. Good entomological research often relies on collecting and preserving the genetic material in specimens.
Cancers evolve over time in patterns governed by the same natural laws that drive physical and chemical processes as diverse as the flow of rivers or the brightness of stars, a new study reports.
CRISPR/Cas9 gene editing technique can be transiently activated and inactivated using RNA-based drugs, giving researchers more precise control in correcting and inactivating genes.
Researchers show gene variant causes Hajdu-Cheney syndrome, may illuminate bone loss more generally.
New large-scale computational analysis of gene expression in single cells in the brain identifies distinct cell types.
Researchers at University of California, San Diego School of Medicine and Rady Children’s Hospital-San Diego have created the first stem cell-derived in vitro cellular model of a rare, but devastating, neurodegenerative condition called Cockayne syndrome (CS).
IDH mutations disrupt how the genome folds, bringing together disparate genes and regulatory controls to spur cancer growth.
A team of investigators based in Seattle, Amsterdam, and Luxembourg, have established the cause of a rare syndrome consistent with Fanconi Anemia, a chromosome instability disorder which is clinically typified by birth defects, bone marrow failure, leukemia, and susceptibility to solid tumors. The results were reported by researchers from the Institute for Systems Biology (Seattle), the Free University Medical Center in Amsterdam, and the Luxembourg Centre for Systems Biomedicine and several other institutions in the United States and Europe in the journal Nature Communications on December 18, 2015 (DOI: 10.1038/ncomms9829).
The Coriell Personalized Medicine Collaborative (CPMC), a research initiative exploring the utility of genetic information in the clinical setting, has published a study and identified six noteworthy genes that affect human sleep duration.
Patients between the ages of 40 and 70 who undergo aortic valve replacement (AVR) may fare better with tissue-based valves rather than metal-based valves
UCLA scientists have discovered that an overlooked region in brain cells houses a motherlode of mutated genes previously tied to autism. Recently published in Neuron, the finding could provide fresh drug targets and lead to new therapies for the disorder, which affects one in 68 children in the United States.
Research suggests we do not yet have the whole story about how fertilised eggs produce the many different types of cell that make up our adult bodies.
An analysis funded by the National Eye Institute (NEI), part of the National Institutes of Health, has identified three genes that contribute to the most common type of glaucoma. The study increases the total number of such genes to 15.
An international consortium of scientists has announced it has been able to crack the code for understanding the order of about 90 per cent of the highly complex genome of bread wheat, the most widely grown cereal in the world.
he J. Craig Venter Institute (JCVI) policy group today released a new report titled, “DNA Synthesis and Biosecurity: Lessons Learned and Options for the Future,” which reviews how well the Department of Health and Human Services guidance for synthetic biology providers has worked since it was issued in 2010.
Nearly every girl and woman on Earth carries two X chromosomes in nearly every one of her cells – but one of them does (mostly) nothing. That’s because it’s been silenced, keeping most of its DNA locked up and unread like a book in a cage. Scientists thought they had figured out how cells do this, but a new piece of research from the University of Michigan Medical School shows the answer isn’t quite that clear.
When sick, we assume that our aches, fever, etc., are from a virus or bacteria, but now a team of scientists have a novel hypothesis: evolution. The genes that trigger symptoms which encourage us to stay home are actually focused on their own survival – in the group as a whole, if not in us.
A UA researcher and clinician team has discovered that genetic mutations in a protein associated with asthma can affect a person’s susceptibility to a variety of lung diseases — and could lead to new treatments.
A single chance mutation caused an ancient protein to evolve a new function essential for multicellularity in animals, about a billion years ago, according to research co-led by UChicago scientists.
New research by UC San Francisco stem cell biologists has revealed that a DNA-binding protein called Foxd3 acts like a genetic traffic signal, holding that ball of undifferentiated cells in a state of readiness for its great transformation in the third week of development.
Scientists have found that women who suffer unexplained heart failure towards the end of pregnancy or shortly after giving birth share certain genetic changes.
The International Wheat Genome Sequencing Consortium (IWGSC) announced today the production of a whole genome assembly of bread wheat, the most widely grown cereal in the world, significantly accelerating global research into crop improvement. The new data will help speed up the delivery of a high quality reference sequence of the bread wheat genome.
Variation in egg-coat and sperm expressed genes influences fertility in diverse organisms, from sea stars to mice to humans.
Chickens that chicken out in unfamiliar surroundings may shed light on anxiety in humans, according to research published in the January issue of the journal GENETICS, a publication of the Genetics Society of America.
The study of 2,022 patients identified 63 who had genetic variations considered to be “potentially pathogenic” – capable of producing arrhythmias. Yet their electrocardiograms (ECGs) were no different from those who did not carry the “disease genes.”
Human material from the Anatolian site Kumtepe was used in the study. The material was heavily degraded, but yielded enough DNA for the doctorate student Ayca Omrak to address questions concerning the demography connected to the spread of farming. She conducted her work at the Archaeological Research Laboratory.
A gene that is known to suppress the growth and spread of many types of cancer has the opposite effect in some forms of colorectal cancer, University of Missouri School of Medicine researchers have found. It is a finding that may lay the foundation for new colorectal cancer treatments.
Researchers analysed the impact of 14 obesity predisposing genes and found that physical activity can blunt the genetic effect of FTO, the major contributor to common obesity, by up to 75 per cent.
Minor variants of flu strains, which are not typically targeted in vaccines, carry a bigger viral punch than previously realized, a team of scientists has found. Its research, which examined samples from the 2009 flu pandemic in Hong Kong, shows that these minor strains are transmitted along with the major strains and can replicate and elude immunizations.
Using a new gene-editing technique, a team of scientists from UT Southwestern Medical Center stopped progression of Duchenne muscular dystrophy (DMD) in young mice.
The genomes show unequivocal evidence for mass migrations into Ireland. These genetic influxes are likely to have brought cultural changes including the transition to agriculture, Bronze metalworking and may have been the origin of western Celtic language.
Molecular biologists at UT Southwestern Medical Center have identified a gene called NORAD that helps maintain the proper number of chromosomes in cells, and that when inactivated, causes the number of chromosomes in a cell to become unstable, a key feature of cancer cells.
Fathers are able to adjust to increasing temperatures within their own lifetime and do transmit this information to their offspring. This has now been shown for the first time in a wild animal. The findings were the result of a project within the Joint Initiative for Research and Innovation and have been published in the scientific journal “Molecular Ecology.”
Researchers led by NIH identify potential genetic contributors to weight loss and directions for future research.
In a new analysis, researchers have shed light on the hereditary elements across 12 cancer types — showing a surprising inherited component to stomach cancer and providing some needed clarity on the consequences of certain types of mutations in well-known breast cancer susceptibility genes, BRCA1 and BRCA2.
An international study of about 43,000 people has significantly expanded the number of genetic factors known to play a role in age-related macular degeneration (AMD), a leading cause of vision loss among people age 50 and older. Supported by the National Eye Institute (NEI), part of the National Institutes of Health, the findings may help improve our understanding of the biological processes that lead to AMD and identify new therapeutic targets for potential drug development.
Teams of geneticists from nine countries, involving more than 100 scientists, analyzed the genes of more than 33,000 individuals in the hope of finding genetic variations responsible for age-related macular degeneration (AMD), the leading cause of vision loss among people age 50 or older.
Genetic influence on intelligence varies according to people’s social class in the United States, but not in Western Europe or Australia, according to a psychology study at The University of Texas at Austin.
Scientists have shown for the first time that an enzyme crucial to keeping our immune system healthy “surfs” along the strands of DNA inside our cells.
Evolutionary biologists at Fred Hutchison Cancer Research Center, University of Washington and the University of Utah may have solved a century-old evolutionary riddle: How did two related fruit fly species arise from one?
A study published today finds a surprising and very recent shift away from the steady relationship among species that prevailed for more than 300 million years. The study, published in the journal Nature, offers the first long-term view of how species associated with each other for half of the existence of multicellular life on Earth.
Trainee representatives were selected through a competitive application process based on demonstrated leadership roles, volunteer service, and letters of recommendation. These new representatives will hold two-year terms beginning January 1, 2016.
While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.
Researchers have found a number of genetic mutations that explain why many children with congenital heart disease also have other significant health challenges, including neurodevelopmental disorders and other congenital problems. The study was published in the December 3rd online edition of Science.
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