Current Human Genetics News and Events

Current Human Genetics News and Events, Human Genetics News Articles.
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People with this muscle protein gene variant tolerate the cold better
A gene variant that affects muscle function may have protected humans against cold during migrations from Africa to Europe more than 50,000 years ago, suggests a study appearing February 17 in the American Journal of Human Genetics. Researchers show that deficiency of a protein called α-actinin-3 caused by a gene variant improves cold tolerance in humans by increasing muscle tone. (2021-02-17)

ADHD, DBD and aggressiveness: Risky genetic factors
People with attention-deficit / hyperactivity disorder (ADHD) combined with disruptive behaviour disorders (DBDs) share about the 80% of genetic variants associated with aggressive and antisocial behaviours. (2021-02-17)

Dr. Frederick Boop presents at the ISPN 2020 Virtual Meeting
Understanding the molecular biology of brain tumors is key to prognosis and treatment said Le Bonheur Neuroscience Institute Co-Director Frederick Boop, MD, in his presentation ''How Molecular Biology Impacts Clinical Practice'' at the International Society for Pediatric Neurosurgery (ISPN) 2020 Virtual Meeting. (2021-02-17)

New improved dog reference genome will aid a new generation of investigation
Researchers at Uppsala University and the Swedish University of Agricultural Sciences have used new methods for DNA sequencing and annotation to build a new, and more complete, dog reference genome. This tool will serve as the foundation for a new era of research, helping scientists to better understand the link between DNA and disease, in dogs and in their human friends. The research is presented in the journal Communications Biology. (2021-02-10)

Study describes the diversity of genetic changes that cause inherited kidney disease
A study has described genetic changes in patients with the most common form of hereditary kidney disease that affects an estimated 12.5 million people worldwide. The research, which focussed on Polycystic Kidney Disease (PKD) in Ireland, provides insights into PKD that will assist doctors and patients in the management of this of inherited condition. (2021-02-08)

Researchers develop platform to identify cancer mutations that may be responsive to drug therapies
A Cleveland Clinic-led team of researchers has developed a personalized genomic medicine platform that will help advance accelerate genomic medicine research and genome-informed drug discovery, according to new study results published recently in Genome Biology. (2021-02-08)

Machine learning generates realistic genomes for imaginary humans
Machines, thanks to novel algorithms and advances in computer technology, can now learn complex models and even generate high-quality synthetic data such as photo-realistic images or even resumes of imaginary humans. A study recently published in the international journal PLOS Genetics uses machine learning to mine existing biobanks and generate chunks of human genomes which do not belong to real humans but have the characteristics of real genomes. (2021-02-05)

Genes for face shape identified
Genes that determine the shape of a person's facial profile have been discovered by a UCL-led research team. (2021-02-05)

In symbiosis: Plants control the genetics of microbes
Researchers from the University of Ottawa have discovered that plants may be able to control the genetics of their intimate root symbionts - the organism with which they live in symbiosis - thereby providing a better understanding of their growth. In addition to having a significant impact on all terrestrial ecosystems, their discovery may lead to improved eco-friendly agricultural applications. (2021-02-04)

Genetics study finds ancestral background can affect Alzheimer's disease risk
Genetics contributes to the risk of developing Alzheimer's disease, and the APOE gene is the strongest genetic risk factor, specifically the APOE4 allele. However, it has been known for a while that the risk due to the APOE4 allele differs considerably across populations, with Europeans having a greater risk from the APOE4 allele than Africans and African Americans. (2021-02-03)

New technique identifies important mutations behind Lynch Syndrome
A Michigan Medicine team describes a method for screening so-called genetic variants of uncertain significance in the hopes of identifying those mutations that could cause cancer. (2021-01-29)

Early breeding reduced harmful mutations in sorghum
A new Cornell University study found that harmful mutations in sorghum landraces - early domesticated crops - decreased compared to their wild relatives through the course of domestication and breeding. (2021-01-20)

Coercive collection of DNA is unethical and damaging to the future of medical research
The compulsory collection of DNA being undertaken in some parts of the world is not just unethical, but risks affecting people's willingness to donate biological samples and thus contribute to the advancement of medical knowledge and the development of new treatments, says a paper in the European Journal of Human Genetics. (2021-01-18)

Study finds neglected mutations may play important role in autism spectrum disorder
Mutations that occur in certain DNA regions, called tandem repeats, may play a significant role in autism spectrum disorders, according to research led by Melissa Gymrek, assistant professor in the UC San Diego Department of Computer Science and Engineering and School of Medicine. The study, which was published in Nature on Jan. 14, was co-authored by UCLA professor of human genetics Kirk Lohmueller and highlights the contributions these understudied mutations can make to disease. (2021-01-13)

NHGRI proposes an action agenda for building a diverse genomics workforce
The National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH) has released a new action agenda for a diverse genomics workforce. This ambitious set of goals, objectives, and implementation strategies details NHGRI's plans for enhancing the diversity of the genomics workforce by 2030. (2021-01-07)

Intelligence deficit: Conclusion from the mouse to the human being
Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers now used genetic engineering methods to create a mouse that mimics these patients very well. Studies in this animal model suggest that in GPI anchor deficiencies, a gene mutation impairs the transmission of stimuli at the synapses in the brain. The results are published in the journal PNAS. (2021-01-07)

New mammal reference genome helps ID genetic variants for human health
A new reference genome assembly identified more than 85 million genetic variants in the rhesus macaque, the largest database of genetic variation for any one nonhuman primate species to date. (2020-12-23)

Scientists identify new gene involved in autism spectrum disorder
UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD). In a study published this week in eLife, the researchers used this approach in mice to find one such gene called KDM5A. (2020-12-23)

Clemson researcher identifies gene teams working in subregions of brain
You must first understand how something works normally before you can figure out why it's broken. Clemson University researcher Yuqing ''Iris'' Hang has identified six mini gene co-expression networks for a normally functioning brain. That will allow researchers to test each of the gene teams to see if gene pairs are changing in brain tumors or people with intellectual disabilities. (2020-12-16)

A human gene placed in fruit flies reveals details about a human developmental disorder
Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. One mutation causing MGS, first reported in 2017, is a Lysine 23 to Glutamic acid (K23E) substitution in the gene for Orc6. Researchers have now put that mutant human gene into fruit flies to probe the function of Orc6 K23E. (2020-12-14)

Human egg cells are imperfect surprisingly often
More than 7% of human oocytes contain at least one exchangeless chromosome pair, demonstrating a remarkably high level of meiotic recombination failure, finds a study appearing December 10 in the American Journal of Human Genetics. The findings suggest that right from the get-go of human egg cell development, a striking proportion of oocytes are predestined to be chromosomally abnormal. But the frequency of exchangeless chromosomes is not affected by maternal age. (2020-12-10)

Researchers discover key driver of the spread of cancer to the brain
Approximately 200,000 cancer patients are diagnosed with brain metastases each year, yet few treatment options exist because the mechanisms that allow cancer to spread to the brain remain unclear. However, a study recently published in the journal Cancer Cell by VCU Massey Cancer Center scientist Suyun Huang, M.D., Ph.D., offers hope for the development of future therapies by showing how a poorly understood gene known as YTHDF3 plays a significant role in the process. (2020-12-08)

Genetics of human face begin to reveal underlying profile
The genetics behind the shape of the human face are difficult to decipher, but now an international team of researchers has connected specific genetic signals with specific areas of the face. They not only can see the signals of normal facial features in the genome, but also hope their work can shed light on craniofacial malformations such as cleft lip and palate. (2020-12-07)

Small and large birth weight linked to genetics of mother and baby -- except in tiniest babies
Genetics of mother and baby contribute to most cases where babies are born very large or very small, according to new research. (2020-12-02)

Vitamin D regulates calcium in intestine differently than previously thought
A Rutgers study has discovered that vitamin D regulates calcium in a section of the intestine that previously was thought not to have played a key role. The findings have important implications on how bowel disease, including ulcerative colitis and Crohn's disease, may disrupt calcium regulation. (2020-12-01)

BICRA gene provides answers to patients, doctors and scientists
Researchers identified the BICRA gene as a new disease gene involved in a neurodevelopmental disorder and found evidence that BICRA functions in neural development in humans and flies. (2020-11-23)

A novel finding on Kabuki syndrome, a rare genetic disease
It has a long time since the cause of the disease has been identified: mutations of KMT2D gene codify for MLL4, a protein involved in the regulation of chromatin, which is the complex of proteins and nucleic acids contained in the nucleus of cells. However, research still has a long way to go to identify therapeutic approaches. An Italian team, coordinated by the University of Trento, has taken a step forward in this direction (2020-11-09)

NIH researchers identify gene in mice that controls food cravings, desire to exercise
National Institutes of Health researchers have discovered a gene in mice that controls the craving for fatty and sugary foods and the desire to exercise. The gene, Prkar2a, is highly expressed in the habenula, a tiny brain region involved in responses to pain, stress, anxiety, sleep and reward. The findings could inform future research to prevent obesity and its accompanying risks for cardiovascular disease and diabetes. (2020-11-05)

Genetic determinants of fertility and ongoing natural selection in humans
A recent study presented at the ASHG 2020 Virtual Meeting suggests genetic variants may be associated with reproductive success. (2020-10-29)

New approach to diagnosing genetic diseases using RNA sequencing increases yield
A new study from Baylor College of Medicine finds that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis. (2020-10-27)

Genetic predisposition to increased weight is protective for breast and prostate cancer
A research study presented at the ASHG 2020 Virtual Meeting suggests that found that increasing weight is causally protective for breast and prostate cancer. (2020-10-26)

Cell-Free DNA provides a dynamic window into health
A new study presented at the ASHG 2020 Virtual Meeting shows how cfDNA testing can be used to provide insight into a patient's health. (2020-10-26)

Breast cancer risk and disease-causing mutations in women over age 65
In a new study presented at the ASHG 2020 Virtual Meeting, researchers investigated the prevalence of disease-causing variants in established breast cancer predisposition genes in women over age 65. (2020-10-26)

Insights into the genetic architecture of penicillin allergy
In a study presented at the ASHG 2020 Annual Meeting, researchers found that thehistocompatibility complex gene HLA-B in penicillin allergy. (2020-10-26)

Happiness and the evolution of brain size
Serotonin can act as a growth factor for the stem cells in the fetal human brain that determine brain size. (2020-10-23)

Plant compound reduces cognitive deficits in mouse model of Down syndrome
The plant compound apigenin improved the cognitive and memory deficits usually seen in a mouse model of Down syndrome, according to a study by researchers at the National Institutes of Health and other institutions. Apigenin is found in chamomile flowers, parsley, celery, peppermint and citrus fruits. The findings raise the possibility that a treatment to lessen the cognitive deficits seen in Down syndrome could one day be offered to pregnant women whose fetuses have been diagnosed with Down syndrome through prenatal testing. (2020-10-23)

Media alert: new articles in the CRISPR Journal
The CRISPR Journal announces the publication of its October 2020 issue. (2020-10-23)

Gut bacteria in multiple sclerosis: Probiotic or commensal, good or bad?
Though evidence suggests that the gut microbiome modulates risk of multiple sclerosis, new findings from the University of Vermont highlight complex interactions between host genetics and environmental factors impact susceptibility to multiple sclerosis. Strategies to prevent or treat multiple sclerosis should take into account host genetics, the pre-existing gut microbiome, and the timing or mode of the intervention. (2020-10-19)

Classic optical illusion leads to the discovery of critical neurons in zebrafish.
By exposing larval zebrafish to a well-known optical illusion, researchers at the Max Planck Institute of Neurobiology and National Institute of Genetics have found a clever way to isolate key clusters of neurons critical to processing the direction of motion in the zebrafish's environment. The full results were published in the journal Neuron in September 2020. (2020-10-15)

Human genetics: A look in the mirror
Genome Biology and Evolution's latest virtual issue highlights recent research published in the journal within the field of human genetics. (2020-09-18)

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