Current Genetic Disease News and Events

Current Genetic Disease News and Events, Genetic Disease 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)

Absence of natural killer cell receptor associated with severe Covid-19
The course and severity of COVID-19 in individual patients is largely influenced by the interaction between the SARS-CoV-2 coronavirus and the human immune system. The NKG2C receptor communicates with an infected cell via one of its specialised surface structures, HLA-E, which results in the destruction of virus-infected cells. However, due to a genetic variation, approximately 4% of the population naturally lack the this receptor NKG2C, and in 30% of the population this receptor is only partially available. (2021-02-22)

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)

New technology enables predictive design of engineered human cells
Northwestern University synthetic biologists have developed a design-driven process to build complex genetic circuits for cellular engineering. The new technology utilizes computational modeling to more efficiently identify useful genetic designs before building them in the lab. Faced with myriad possibilities, modeling points researchers to designs that offer real opportunity. The researchers constructed a variety of genetic programs to carry out desired and useful functions in human cells and found the programs worked as predicted. And the designs worked the first time. (2021-02-19)

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)

Déjà brew? Another shot for lovers of coffee
In a world first genetic study, researchers from the Australian Centre for Precision Health at the University of South Australia found that that long-term, heavy coffee consumption - six or more cups a day - can increase the amount of lipids (fats) in your blood to significantly heighten your risk of cardiovascular disease (CVD). (2021-02-18)

A study with 1,600 dogs: More than 20 gene loci associated with canine hip dysplasia
An extensive study on canine hip dysplasia conforms to the polygenic background of the disease. Genes located in different chromosomes have a strong association with a protein modification process previously linked to inflammatory arthritis. (2021-02-18)

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)

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)

"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)

Geisinger-GeneDx research identifies frequent genetic causes of cerebral palsy
Researchers have discovered a strong link between genetic changes known to cause neurodevelopmental disabilities and cerebral palsy, further debunking birth asphyxia as its major cause. (2021-02-02)

New tool facilitates inclusion of people of diverse ancestry in large genetics studies
People of diverse ancestry have typically been excluded from genome-wide association studies, exacerbating existing health disparities. A free-access software package called Tractor allows genetics researchers to account for ancestry in a precise manner. This advance will improve the discovery of gene variants that increase risk of disease in both understudied individuals and the population as a whole. (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)

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)

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)

Genetic breakthrough to target care for deadly heart condition
New genetic faults discovered in people with a heart condition that is sometimes inherited in families could transform the diagnosis and treatment of the hidden disease, according to research funded by the British Heart Foundation (BHF) and published in Nature Genetics. (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)

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)

New molecular structures associated with ALS
Researchers from the University of Seville and the University of Pavia have identified a link between Amyotrophic Lateral Sclerosis (ALS) and the accumulation of DNA-RNA hybrids in the genome. The accumulation of these hybrids causes increased genomic damage and boosts genetic instability. This finding will make it possible to better understand the molecular basis of the disease, as well as to propose new solutions to curb it. (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)

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)

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 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)

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)

Novel genomic tools increase the accuracy of breast cancer risk assessment
Findings from the FinnGen study encompassing 120,000 women indicate that inherited breast cancer risk should be assessed in an increasingly comprehensive manner. Currently, only individual gene mutations are taken into consideration in breast cancer therapy and prevention. The study demonstrates that more extensive genomic data can be used to identify women who are at high risk of breast cancer with considerably greater accuracy. Such knowledge can especially improve risk assessment among the close relatives of breast cancer patients. (2020-12-14)

Seventeen genetic abnormalities that cause brain aneurysms
Intracranial aneurysm is a dilation of a blood vessel forming a fragile pocket. Rupture results in extremely severe haemorrhage. In the framework of the International Stroke Genetics Consortium, a team led by the University of Geneva, the University Hospitals of Geneva and the University of Utrecht has examinated the genome of more than 10,000 people suffering from aneurysms. 17 genetic abnormalities have been identified, notably involved in the functioning of the vascular endothelium. (2020-12-07)

Scientists identify new genetic MND risk factor in junk DNA
Researchers from the University of Sheffield have identified a new genetic risk factor for Motor Neurone Disease (MND). (2020-12-01)

New method identifies adaptive mutations in complex evolving populations
A research team co-led by a scientist at the Hong Kong University of Science and Technology has developed a method to study how HIV mutates to escape the immune system in multiple patients, which could inform HIV vaccine design. (2020-11-30)

Genetic treatment plus exercise reverses fatigue in mice with muscle wasting disease
Adding exercise to a genetic treatment for myotonic dystrophy type 1 was more effective at reversing fatigue than administering the treatment alone in a study using a mouse model of the disease. In fact, exercise alone provided some benefit whereas the genetic treatment alone did not. This study, carried out by researchers at Massachusetts General Hospital and collaborators, has implications for patients with fatigue due to genetics-related musculoskeletal diseases and other types of illness-induced fatigue. (2020-11-30)

High genomic variability predicts success in desert tortoise refugees; could inform conservation
Tortoise refugees with the highest genetic variation are far more likely to survive conservation translocation than tortoises whose genetic diversity is lower, according to a new study. (2020-11-26)

Researchers have discovered new links between miscarriage and maternal genes
Researchers at the Estonian Genome Center at the University of Tartu described hitherto undiscovered associations between miscarriage and maternal genes, reveals a recent article published in the Nature Communication. (2020-11-25)

Space worms experiment reveals gravity affects genes
Living at low gravity affects cells at the genetic level, according to a study of worms in space. (2020-11-25)

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