Current Genetic Diseases News and Events

Current Genetic Diseases News and Events, Genetic Diseases News Articles.
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Genetic tool improves estimation of prostate cancer risk in diverse ethnic/racial groups
Scientists at University of California San Diego School of Medicine validated a more inclusive and comprehensive genetic tool, known as a polygenic hazard score (PHS), for predicting age of onset of aggressive prostate cancer. (2021-02-23)

Don't focus on genetic diversity to save our species
Scientists at the University of Adelaide have challenged the common assumption that genetic diversity of a species is a key indicator of extinction risk. Published in the journal PNAS, the scientists demonstrate that there is no simple relationship between genetic diversity and species survival. But, Dr João Teixeira and Dr Christian Huber from the University of Adelaide's School of Biological Sciences conclude, the focus shouldn't be on genetic diversity anyway, it should be on habitat protection. (2021-02-22)

First multi-whole-genome study of IBD in African Americans
In African Americans, the genetic risk landscape for inflammatory bowel disease (IBD) is very different from that of people with European ancestry, according to results of the first whole-genome study of IBD in African Americans. The authors say that future clinical research on IBD needs to take ancestry into account. (2021-02-19)

A new piece of the HIV infection puzzle explored
Researchers from the European Molecular Biology Laboratory and Heidelberg University Hospital combine high-resolution imaging to observe the infection process in cell nuclei, opening the door for new therapeutics. (2021-02-18)

New UCF study examines leeches for role in major disease of sea turtles in Florida
University of Central Florida researchers are homing in on the cause of a major disease of sea turtles, with some of their latest findings implicating saltwater leeches as a possible factor. The results, published recently in the journal Diseases of Aquatic Organisms, present the first evidence of a significant association between leeches and the disease in sea turtles, according to the researchers. (2021-02-18)

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)

IU researchers find disease-related gene changes in kidney tissue
Researchers from Indiana University have identified key genetic changes in the interstitial kidney tissue of people with diabetes, a discovery that signifies the potential for a revolutionary new genetic approach to the treatment of kidney disease. They will contribute their findings to the Kidney Precision Medicine Project's (KPMP) ''cell atlas,'' a set of maps used to classify and locate different cell types and structures within the kidney. (2021-02-16)

Large-scale study finds genetic testing technology falsely detects very rare variants
A technology that is widely used by commercial genetic testing companies is 'extremely unreliable' in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually wrong, according to new research published in the BMJ. (2021-02-15)

New study identifies the main genetic causes of autoimmune Addison's disease
Scientists from the University of Bergen (Norway) and Karolinska Institutet (Sweden) have discovered the genes involved in autoimmune Addison's disease. (2021-02-12)

Gene variants increase risk of Addison's disease
Variants of nine genes increase the risk of developing Addison's disease, a rare disease in which the immune system attacks the adrenal glands. That is according to the largest genetic study to date on patients with Addison's disease. The findings help increase knowledge about what causes the disease. The study was conducted by researchers at Karolinska Institutet, Sweden, and Bergen University, Norway, and is published in the journal Nature Communications. (2021-02-11)

New research identifies biological causes of muscle weakness in later life
A new largescale genetic analysis has found biological mechanisms that contribute to making people more susceptible to muscle weakness in later life, finding that diseases such as osteoarthritis and diabetes may play a large role in susceptibility. (2021-02-11)

"Genetic SD-card": Scientists obtained new methods to improve the genome editing system
Researchers take a step in the development of genome editing technology. Currently it is possible to deliver genetic material of different sizes and structures to organs and tissues. This is the key to eliminating DNA defects and treating more patients. (2021-02-02)

Neuromuscular disease registry helps patients access research, clinical trials, new genetic tests, and therapies
Amsterdam, February 2, 2021 - The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration. (2021-02-02)

Constructing the first version of the Japanese reference genome
The Japanese now have their own reference genome thanks to researchers at Tohoku University who completed and released the first Japanese reference genome (JG1). (2021-01-29)

First hybrid gene therapy shows early promise in treating long QT syndrome
In a new study published in Circulation, Mayo Clinic researchers provide the first preclinical, proof-of-concept study for hybrid gene therapy in long QT syndrome, a potentially lethal heart rhythm condition. (2021-01-28)

New gene variant linked to stroke
Researchers at Lund University in Sweden believe they have identified a gene variant that can cause cerebral small vessel disease and stroke. The study is published in Neurology Genetics. (2021-01-28)

Malaria threw human evolution into overdrive on this African archipelago
Malaria is an ancient scourge, but it's still leaving its mark on the human genome. And now, researchers have uncovered recent traces of adaptation to malaria in the islanders of Cabo Verde -- thanks to a genetic mutation, inherited from their African ancestors, that prevents a type of malaria parasite from invading red blood cells. The findings represent one of the speediest, most dramatic changes measured in the human genome. (2021-01-28)

Genetic analysis of symptoms yields new insights into PTSD
A new study led by researchers at Yale and the University of California-San Diego (UCSD) uncovers intriguing genetic similarities between PTSD and other mental health disorders such as anxiety, bipolar disorder, and schizophrenia. The findings also suggest that existing drugs commonly used for other disorders might be modified to help treat individual symptoms of multiple disorders. (2021-01-28)

Researchers simplify the study of gene-environment interactions
Researchers at Weill Cornell Medicine and Cornell University's Ithaca campus have developed a new computational method for studying genetic and environmental interactions and how they influence disease risk. (2021-01-26)

Partners in crime: genetic collaborator may influence severity of the rare disease, NGLY1
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found. Clement Chow, a University of Utah geneticist is determined to find what's going on. (2021-01-26)

To ward off cancer and other diseases we need to change our lifestyle and focus on innovation
The key factor in preventing non-communicable diseases is lifestyle management at the individual level with a focus on such innovations, which can help increase the awareness of risk factors management in society, claim an international team of researchers, among them - scientists from Kaunas University of Technology (KTU), Lithuania in a recent study. According to them, the management of cancer, diabetes, cardiovascular and respiratory diseases requires many strategies from several perspectives and on different levels. (2021-01-25)

Study finds genetic clues to pneumonia risk and COVID-19 disparities
Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences. (2021-01-21)

Eating habits partly down to your genetics, finds new study
Your food intake patterns are partly under genetic control, according to the latest research from researchers at King's College London, published today in the journal Twin Research and Human Genetics. (2021-01-19)

Primary care physicians account for a minority of spending on low-value care
Primary care physicians (PCPs) are seen as gatekeepers to reduce spending on low-value health care services, which have been estimated to cost the health care system up to $100 billion annually. A brief research report published in Annals of Internal Medicine analyzed how much low-value spending is directly related to PCPs' services and referral decisions. (2021-01-18)

Reverse engineering 3D chromosome models for individual cells
A new computational technique that uses heat map data to reverse engineer highly detailed models of chromosomes and researchers have uncovered new information about the close spatial relationships that chromatin folding creates between genes. (2021-01-14)

Weaker skin barrier leads to faster uptake of chemicals
The ability of our skin to protect us from chemicals is something we inherit. Some people are less well-protected which could imply an increased risk of being afflicted by skin disease or cancer. A new study from Karolinska Institutet in Sweden that has been published in Environmental Health Perspectives shows how the rate of uptake of common chemicals is faster in people with a genetically weakened skin barrier. (2021-01-13)

Tiny molecules with a big impact
In an international study, scientists from the Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin joined forces with colleagues from the United Kingdom, Australia and the United States and discovered hundreds of previously unknown variations in genes that have a sometimes drastic impact on the concentration of these small molecules in the blood. The researchers have now published their findings in the journal Nature Genetics. (2021-01-13)

New taxonomy of non-skeletal rare disorders with impact on bone
A new paper published in Orphanet Journal of Rare Diseases by the International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group provides a first taxonomic classification of selected non-skeletal rare congenital disorders with an impact on bone physiology on the basis of phenotypes. The diseases have been described according to the systemic disease; genetic defect; pathophysiology of bone phenotype; and therapy, where available. (2021-01-12)

A subtle change in the DNA may predispose to polyneuropathy after gut infection
Researchers from Tokyo Medical and Dental University (TMDU) identified a novel genetic variant associated with Guillain-Barré syndrome (GBS). By analyzing the DNA sequence of patients with the disease, the researchers identified two novel variants of the ganglioside-binding protein Siglec-10 accumulated in the patients. They found that one of these variants impairs the function of the protein, predisposing carriers to the development of GBS. This study improves our understanding of the pathophysiology of GBS. (2021-01-07)

Autoimmune diseases: similar molecular signatures in target tissues
A study conducted by Professor Decio L. Eizirik's group - ULB Center for Diabetes Research - and published in Sciences Advances shows that autoimmune diseases, including type 1 diabetes, must be studied in their entirety, taking into account not only the immune system but also the target tissues. Indeed, the key mechanisms induced by inflammation, potentially shared between type 1 diabetes, systemic lupus erythematosus, multiple sclerosis and rheumatoid arthritis, could generate similar molecular signatures at the target tissue level. (2021-01-07)

How medical schools can transform curriculums to undo racial biases
Medical school curriculums may misuse race and play a role in perpetuating physician bias, a team led by Penn Medicine researchers found in an analysis of curriculum from the preclinical phase of medical education. (2021-01-07)

$3.9M project on self-deleting genes takes aim at mosquito-borne diseases
To control mosquito populations and prevent them from transmitting diseases such as malaria, many researchers are pursuing strategies in mosquito genetic engineering. A new Texas A&M AgriLife Research project aims to enable temporary ''test runs'' of proposed genetic changes in mosquitoes, after which the changes remove themselves from the mosquitoes' genetic code. (2020-12-28)

Multi-population risk scores could improve risk prediction for inflammatory bowel diseases, study finds
New study illustrates how studying diverse populations can help predict patient outcomes and reduce health disparities (2020-12-24)

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)

New 3D maps reveal inner workings of immune cell gene expression
The COVID-19 pandemic has highlighted how our small genetic differences can have a tremendous effect on how our bodies respond to disease. Researchers have created 3D maps of how enhancer sequences and genes interact in several types of immune cells. Their new study in Nature Genetics opens the door to understanding individual risk for diseases from asthma to cancer. (2020-12-21)

New drug molecules hold promise for treating rare inherited terminal childhood disease
Scientists at the University of Exeter have identified a way to ''rescue'' cells that have genetically mutated, paving the way to a possible new treatment for rare terminal childhood illness such as mitochondrial disease. (2020-12-18)

Study in mice shows genes may be altered through drug repurposing
Researchers screened drugs that can enhance the PAX6 gene and found MEK inhibitors can stimulate PAX6 expression in the eye. They tested this drug in newborn PAX6 deficient mice and found that either topical or oral administration of the drug enhanced PAX6 and partially normalized their eye development. Mice treated with topical MEK inhibitor had clearer corneas (less scarring) and could see better. (2020-12-17)

Improved macaque genome enhances biomedical utility
Using advanced sequencing technology, researchers present a new, improved and far more complete reference genome for the rhesus macaque - one of the most important animal models in biomedical research. (2020-12-17)

TGen identifies gene that could explain disparity in COVID-19 effects
TGen identified a genetic target that could help explain the tremendous variation in how sick those infected with COVID-19 become. Led by Nicholas Schork, Ph.D., Director of TGen's Quantitative Medicine and Systems Biology Division, researchers identified miR1307 by comparing the genetic elements of SARS-Cov-2 with seven other human coronaviruses, and the genomes of coronavirus strains known to infect bats, pigs, pangolins, ferrets, civets and chickens. (2020-12-16)

Glyphosate can create biomarkers predicting disease in future generations
Exposure to the widely used weed-killer glyphosate makes genetic changes to rats that can be linked to increased disease in their grandchildren and great-grandchildren. These glyphosate-induced changes to sperm from exposed rats could be used as biomarkers for determining propensity in subsequent generations for prostate and kidney diseases as well as obesity and incurring multiple diseases at once. (2020-12-09)

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