Summary: Researchers found a link between schizophrenia and somatic copy-number variants, mutations occurring post-inheritance. The study scrutinized genotype-marker data from over 20,000 blood samples, identifying two genes, NRXN1 and ABCB11,…
Tag: Genetics
Eliminating extra chromosomes in cancer cells prevents tumor growth, new study reveals
Credit: Pixabay/CC0 Public Domain Cancer cells with extra chromosomes depend on those chromosomes for tumor growth, a new Yale study reveals, and eliminating them prevents the cells from forming tumors.…
Gene variant linked to multiple sclerosis severity
People with multiple sclerosis who inherited the genetic variant from both parents needed a walking aid almost four times faster, the study said. Scientists have discovered a genetic variant linked…
Xeroderma pigmentosum study tests artificial antisense oligonucleotides as therapeutic
Locations of the ERCC4/XPF intron variants identified in the Japanese XP-F cases. (A) Estimated structures of pre-mRNA products resulting from the ERCC4/XPF intron variants. Cryptic intron fragments identified in the…
Polygenic risk scores could improve colorectal cancer screening
Credit: Pixabay/CC0 Public Domain Rates of colorectal cancer are high despite widespread adoption of screening programs in many high-income European countries. Such programs tend to use a one-size-fits-all approach where…
Genetic counseling for familial colorectal cancer can provide significant improvements in patient empowerment
Credit: Unsplash/CC0 Public Domain Genetic counseling is essential when dealing with individuals who are affected by, or at risk of, inherited disease. Although it is known to be useful in…
Blood biomarkers plus genomics shown to predict common disease risk more accurately than genomic information alone
Credit: Pixabay/CC0 Public Domain Identifying people at high risk of chronic disease means that they can be targeted with prevention measures before they become sick. Polygenic risk scores, where genomic…
The use of AI in eye scans may help improve diagnosis of inherited disease of the retina
Credit: Pixabay/CC0 Public Domain Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate…
Hitching a Ride: mRNA’s Transport System in Brain Cells Revealed
Summary: Researchers made significant advancements in understanding how mRNA is distributed in brain cells. They discovered that a protein complex called FERRY aids Early Endosomes (EEs) to carry mRNAs to…
Unlocking Addiction Risk: Genetic Test Could Shape Future Prevention Strategies
Summary: A new study hints at the potential of utilizing genetic test results to improve addiction prevention and treatment strategies. The study involved 325 college students who were given varying…
