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Researchers use 'blacklist' computing concept as novel way to streamline genetic analysis

Researchers have developed a novel way to streamline genetic analysis by utilizing the blacklist computing concept. This method has shown promise as a key to faster therapeutic innovation, enabling clinicians and researchers to focus on true disease-causing mutations., By removing non-pathogenic genetic variants from consideration, thi...

SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalProceedings of the National Academy of Sciences·DateDec 24, 2018

Researchers have found the first risk genes for ADHD

A major international collaboration has identified genetic variants that increase the risk of ADHD, providing new insights into the biology behind the disorder. The study found twelve locations in the genome where people with a particular genetic variant have an increased risk of ADHD compared to those who do not.

SourceAarhus University·JournalNature Genetics·DateNov 28, 2018

Color vision variation in guppies influences female mate preference

Research reveals that variation in opsin gene expression affects guppy females' preferences for male orange colors, highlighting the interplay between visual properties and mate choice. Genetic polymorphisms and environmental factors contribute to differing light sensitivity, driving the evolution of diverse male sexual colors.

SourceTohoku University·JournalProceedings of the National Academy of Sciences·DateNov 19, 2018

DICE: Immune cell atlas goes live

Scientists at La Jolla Institute for Immunology have created an immune cell atlas, DICE, to decipher how natural genetic variation shapes the immune system's ability to protect health. The database provides detailed profiles of 15 immune cell types and 91 healthy donors, revealing a wide impact of genetic variation on gene activity.

Genetic risk factor for CTE detected

A genetic variation in TMEM106B has been identified as a potential risk factor for chronic traumatic encephalopathy (CTE) disease severity and pathology. The study found that this variation may predict increased CTE pathology and brain inflammation, and is associated with a higher risk of developing dementia.

SourceBoston University School of Medicine·JournalActa Neuropathologica Communications·DateNov 3, 2018

ANU researchers find new disease

Researchers at ANU have discovered a new syndrome with an immune deficiency and inflammatory diseases of the skin, lymph nodes, and spleen. The study provides a powerful method for resolving potentially important genetic variants using whole genome sequencing and gene editing.

SourceAustralian National University·JournalJournal of Experimental Medicine·DateOct 18, 2018

Genetic variants linked to type 2 diabetes identified in Chinese populations

Researchers have identified genetic variants associated with type 2 diabetes and blood sugar levels in a large Chinese population study. The findings suggest that these variants can reduce gene activity, leading to elevated blood sugar levels. Further analysis is needed to understand the role of these variants in human insulin secretion.

SourcePLOS·JournalPLOS Genetics·DateApr 5, 2018

Large-scale study to pinpoint genes linked to obesity

A large-scale study published in Nature Genetics identified 13 genes associated with body mass index (BMI) and obesity. The study found that genetic variations in these genes can affect the function of the genes and their proteins, leading to weight gain or loss. The researchers hope that this discovery will lead to personalized treatm...

Hereditary facial features could be strongly influenced by a single gene variant

A single gene variant can have a significant impact on human facial features, according to a new study published in Proceedings of the National Academy of Sciences. The research found three genetic variants tied to specific facial characteristics, including those related to steroid biosynthesis and mucolipidosis type IV.

SourceUniversity of Surrey·JournalProceedings of the National Academy of Sciences·DateJan 9, 2018

Life on the edge prepares plants for climate change

Scientists used genetic variability to map a plant species' ability to adapt to climate change, finding that Scandinavian plants can cope with severe drought. The study suggests that relocating populations with genetic variants supporting drought adaptation could help rescue endangered species and improve crop performance.

SourceMax-Planck-Gesellschaft·JournalNature Ecology & Evolution·DateDec 19, 2017

Study sheds light on rarity of disease-causing IGF mutations

Researchers have identified a low incidence of disease-causing IGF mutations and common polymorphisms in the IGF protein family. Dr. Rotwein's analysis suggests that most medical problems associated with IGF mutations are not caused by rare genetic mutations, but rather by prevalent genetic variations within the human population.

SourceTexas Tech University Health Sciences Center El Paso·JournalJournal of Biological Chemistry·DateDec 18, 2017