Current Genetic Disease News and Events | Page 4

Current Genetic Disease News and Events, Genetic Disease News Articles.
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Largest source of AATD stem cells collected
Researchers from the Center for Regenerative Medicine (CReM) at Boston University and Boston Medical Center (BMC) have assembled the largest repository of patient derived stem cells (iPSCs) from patients with alpha-1 antitrypsin deficiency (AATD). (2020-07-02)

Number of HIV-1 founder variants determined by source partner infection
For people infected by HIV in the subset of cases involving several variants of the virus, and for which disease progression is usually faster, a new modeling study suggests the number of infection-initiating viral variants is primarily determined by how long the source partner has been infected. (2020-07-02)

Genetic malfunction of brain astrocytes triggers migraine
Neuroscientists of the University of Zurich shed a new light on the mechanisms responsible for familial migraine: They show that a genetic dysfunction in specific brain cells of the cingulate cortex area strongly influences head pain occurrence. (2020-06-24)

World's first genetic and environmental risks identified for common form of childhood epilepsy
A new study of childhood epilepsy has identified the world's first environmental risk factor for the disease - maternal smoking in pregnancy, and discovered a new genetic association with the condition, pointing to potential new treatments for the disease. (2020-06-24)

Pioneering research reveals certain human genes relate to gut bacteria
The role genetics and gut bacteria play in human health has long been a fruitful source of scientific enquiry, but new research marks a significant step forward in unraveling this complex relationship. Its findings could transform our understanding and treatment of all manner of common diseases, including obesity, irritable bowel syndrome, and Alzheimer's disease. (2020-06-22)

Signs of being prone to adult diabetes are already visible at age 8 years old
Early signs of being more susceptible to type 2 diabetes as an adult can be seen in children as young as 8 years old, decades before it is likely to be diagnosed, according to a new study published in Diabetes Care today [19 June 2020]. (2020-06-19)

Exercise offers 'profound' benefits for Friedreich's ataxia, research suggests
Well-timed exercise programs may slow the progression of Friedreich's ataxia, which robs patients of their ability to walk, new research suggests. (2020-06-16)

The best parents: Genetically as divergent as possible with similar preferences
The more diverse in genetics, than better. But only in cases of similar preferences. A team of researchers led by IPK Gatersleben has succeeded in providing answers to a long unsolved question in the breeding of plant hybrids. (2020-06-12)

Researchers model human stem cells to identify degeneration in glaucoma
More than 3 million Americans have glaucoma, a serious eye condition causing vision loss. Using human stem cell models, researchers at Indiana University School of Medicine found they could analyze deficits within cells damaged by glaucoma, with the potential to use this information to develop new strategies to slow the disease process. (2020-06-11)

Population ecology: Origins of genetic variability in seals
A new study led by Ludwig-Maximilians-Universitaet (LMU) in Munich researchers shows that fluctuations in population sizes in the past have had a significant effect on contemporary seal populations, and estimates the risk of genetic impoverishment in the species investigated. (2020-06-10)

New recommendations on genetic testing for prostate cancer
Genetic testing for prostate cancer is still not common. New guidelines show why it's important, and which genes to test for. (2020-06-10)

Sex differences in participation in large-scale genetic studies may affect results
An international group of researchers have found differences in the characteristics that drive men and women to participate in genome-wide association studies, which analyse genetic variants in different individuals to see if any are associated with a trait or disease. Millions of participants are involved. This means that researchers can see smaller and smaller effects increasing the number of genes they can link to a disease or trait, but these large numbers also mean that biases can affect results. (2020-06-07)

New identification of genetic basis of COVID-19 susceptibility will aid treatment
Italian researchers have been able to identify the genetic basis of susceptibility to Covid-19 infection, and also to the possibility of contracting a more severe form of the disease. This has important implications for treatment and drug development. (2020-06-05)

For acute myeloid leukemia, genetic testing is often worth the wait
New tailored therapies offer exciting prospects for treating acute myeloid leukemia (AML), but taking advantage of them may require waiting a week or more for genetic testing before starting treatment, posing a dilemma for doctors and patients facing this deadly and often fast-moving disease. A new study bolsters the evidence that this approach is safe for most patients under careful clinical oversight. (2020-06-04)

Genetic risk scores may improve clinical identification of patients with heart attack risk
Researchers at Mass General and the Broad Institute have found that applying polygenic risk scores can identify patients at risk of a heart attack who may be missed in standard clinical evaluations. (2020-06-02)

Dementia gene raises risk of severe COVID-19
Having a faulty gene linked to dementia doubles the risk of developing severe COVID-19, according to a large-scale study. (2020-05-26)

Problems with alcohol? 29 gene variants may explain why
A genome-wide analysis of more than 435,000 people has identified 29 genetic variants linked to problematic drinking, researchers at Yale University School of Medicine and colleagues report May 25 in the journal Nature Neuroscience. (2020-05-25)

Researchers uncover the arks of genetic diversity in terrestrial mammals
Mapping the distribution of life on Earth, from genes to species to ecosystems, is essential in informing conservation policies and protecting biodiversity. Researchers from the University of Copenhagen and the University of Adelaide developed models based on long-standing evolutionary and ecological theories to explain and map genetic diversity globally, a basal, but up-to-now hidden dimension of biodiversity. (2020-05-22)

Uncovering Alzheimer's disease
Characterized by a buildup of amyloid plaques in the brain, Alzheimer's is an irreversible disease that leads to memory loss and a decrease in cognitive function. More than 5 million Americans suffer with the brain condition, which is the sixth leading cause of death in the United States. While the causes of Alzheimer's are not fully understood, scientists believe genetic, lifestyle and environmental factors are involved in the disease's development. (2020-05-19)

Ancient DNA reveals genetic history of China
An analysis of 26 newly sequenced ancient genomes from across China helps to fill crucial gaps in the poorly known genetic history of East Asia, including to reveal one major episode of admixture. (2020-05-14)

Gut microbiome influences ALS outcomes
Harvard University scientists have identified a new gut-brain connection in the neurodegenerative disease ALS. Researchers found that in mice with a common ALS genetic mutation, changing the gut microbiome using antibiotics or fecal transplants could prevent or improve disease symptoms. The findings provide a potential explanation for why only some individuals carrying the mutation develop ALS, and point to a possible therapeutic approach based on the microbiome. (2020-05-13)

Uncovering how 'dark matter' regions of the genome affect inflammatory diseases
A study led by researchers at the Babraham Institute in collaboration with the Wellcome Sanger Institute has uncovered how variations in a non-protein coding 'dark matter' region of the genome could make patients susceptible to complex autoimmune and allergic diseases such as inflammatory bowel disease. Published in the leading scientific journal Nature, the research identifies a new potential therapeutic target for the treatment of inflammatory diseases. (2020-05-13)

A disease trigger for pancreatitis has been identified
One factor contributing to the development of pancreatitis lies in mutations within a cell membrane ion channel that is characterized by its specific permeability for calcium ions. This groundbreaking discovery was made by a research team at Technical University of Munich (TUM), in cooperation with other groups from Germany, Japan and France. These insights could lead to the development of new therapeutic agents for treating and preventing chronic pancreatitis. (2020-05-13)

New dataset helps tomato growers reduce spread of bacterial canker
A group of plant pathologists, primarily based at the University of California, Davis, became interested in studying Clavibacter when extension agents brought in diseased samples. In particular, they wanted to develop a diagnostic platform that could specifically detect the tomato pathogen, as some strains of Clavibacter do not cause disease. (2020-05-11)

Lipid metabolism controls brain development
A lipid metabolism enzyme controls brain stem cell activity and lifelong brain development. If the enzyme does not work correctly, it causes learning and memory deficits in humans and mice, as researchers at the University of Zurich have discovered. Regulating stem cell activity via lipid metabolism could lead to new treatments for brain diseases. (2020-05-07)

Gene variants that protect against glaucoma identified, opening therapeutic possibilities
An international research collaboration led by researchers from the University of Helsinki and Stanford University has identified rare changes in a gene called ANGPTL7 that lower intraocular pressure and significantly reduce the risk of glaucoma. The results open important new therapeutic possibilities. (2020-05-05)

Combining mouse and human data uncovers new gene regulating cholesterol
By combining the fine-grained detail available from animal studies with the statistical power of genetic studies involving hundreds of thousands of human genomes, researchers have discovered a new gene involved in regulating the body's cholesterol. (2020-05-04)

'Unnecessary' genetic complexity: A spanner in the works?
The promise of personalized medicine has not fully materialized, say two McMaster researchers, because the full sophistication of the genetic blueprint has a more complex and far-reaching influence on human health than scientists had first realized. (2020-05-04)

New MDS subtype proposed based on presence of genetic mutation
In a special report published today in the journal Blood, an international working group of experts in myelodysplastic syndromes (MDS) proposes -- for the first time -- the recognition of a distinct subtype of MDS based on the presence of a nonheritable genetic mutation that causes the disease. The mutation is found in approximately one in every five patients with MDS. (2020-04-29)

CSIRO unlocks new way to understand evolving strains of SARS-CoV-2
Researchers from CSIRO, Australia's national science agency, have unveiled a new approach to analysing the genetic codes -- or the blueprint -- of the SARS-CoV-2 virus that causes COVID-19. The findings will help researchers better understand how strains of the virus evolve and help identify new clusters of the virus. (2020-04-19)

Study detects presence of disease-causing E. coli in recreational waters, including in bathing waters rated excellent under EU criteria
New research due to be presented at this year's European Congress on Clinical Microbiology and Infectious Diseases (ECCMID) has revealed the presence of disease-causing E. coli in recreational waters, including from beaches rated excellent under EU criteria. (2020-04-17)

Better data framework needed to improve rare disease diagnostic rates
A better framework for the reanalysis of genetic data, a game-changing process which could improve diagnostic rates by up to 32 per cent, was needed, a new study has found. (2020-04-16)

Obesity is a critical risk factor for type 2 diabetes, regardless of genetics
Obesity increases the risk of developing type 2 diabetes by at least 6 times, regardless of genetic predisposition to the disease, concludes research published in Diabetologia (the journal of the European Association for the Study of Diabetes [EASD]). (2020-04-15)

Genetics linked to childhood emotional, social and psychiatric problems
Emotional, social and psychiatric problems in children and adolescents have been linked to higher levels of genetic vulnerability for adult depression. (2020-04-15)

Common disease prevention and cancer screening would benefit from genomic risk assessment
A new Finnish study demonstrated the benefits of large-scale genomic information in estimating the risk of onset for cardiac diseases, diabetes and common cancers. The findings, based on the FinnGen research dataset encompassing more than 135,000 Finns, show that new tools based on genomic data are helpful in identifying high-risk individuals not identified by the current system. (2020-04-14)

Belgian scientists identify ATP10B as novel risk gene for Parkinson's disease
Screening DNA of Parkinson's patients in the Christine Van Broeckhoven laboratory (VIB-UAntwerpen Center for Molecular Neurology) identified a new risk gene for Parkinson's disease. Mutations in ATP10B resulted in loss of ATP10B protein. The function of the ATP10B gene was revealed by the Peter Vangheluwe lab (KU Leuven, Laboratory of Cellular Transport Systems). They identified ATP10B as a transporter for glucosylceramide, a lipid that plays a central role in Parkinson's disease. (2020-04-10)

Researchers reveal important genetic mechanism behind inflammatory bowel disease
Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed a genetic variation responsible for driving the development of inflammatory bowel disease (IBD). The genetic pathway associated with this variation is involved in other immune disorders, suggesting the mechanism they identified could serve as an important therapeutic target. (2020-04-09)

The evolution of arthritic knees
Scientists have identified the genetic switches regulating knee development in mouse and human, explored their evolution, probed their links to bipedalism and osteoarthritis, and confirmed that a mutation in one switch gives rise to the disease. The findings could lead to screening for subtle shape alterations and genetic variations earlier in life that might predispose a person to risk. The methods could be used to explore genetic links between any advantageous trait and potential pathology. (2020-04-07)

Genes sow seeds of neuropsychiatric diseases before birth, in early childhood
From early prenatal development through childhood, the prefrontal cortex of the human brain undergoes an avalanche of developmental activity. In some cases, it also contains seeds of neuropsychiatric illnesses such as autism spectrum disorder and schizophrenia, according to a new genetic analysis led by researchers at Yale University and the University of California-San Francisco. (2020-04-07)

Hereditary mutation that drives aggressive head and neck, and lung cancers in Asians
New research from the Cancer Science Institute of Singapore at the National University of Singapore revealed a genetic variant in a gene called MET that is responsible for more aggressive growth of head and neck, and lung cancers in Asian populations. (2020-04-06)

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