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UrduRecent research highlights the importance of targeted therapies for treating advanced colorectal cancer (CRC) with rare genetic variants. These mutations, often linked to poor prognosis and limited response to conventional treatments, are being addressed through advanced sequencing technologies and new targeted drugs. This study explores the clinical diagnosis and treatment strategies tailored to these unique genetic profiles.
Tag: Genetic Variation
Gene Variant May Underlie Diabetes Disparities: Study
A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine.
Evolutionary fuel: Researchers study maintenance of an ancient chromosomal inversion
Genetic variation is the ultimate fuel for evolution, says Utah State University evolutionary geneticist Zachariah Gompert. But, over centuries, that fuel reservoir gets depleted in the course of natural selection and random genetic drift.
Researchers find an antibody that targets omicron and other SARS-CoV-2 variants
A team led by researchers at Weill Cornell Medicine, the University of Wisconsin-Madison; Scripps Research and the University of Chicago has identified an antibody that appears to block infection by all dominant variants of the virus that causes COVID-19, including Omicron, the most recent. Their discovery could lead to more potent vaccines and new antibody-based treatments.
Genetic variation that protected against Black Death still helps against respiratory diseases today, but increases autoimmune disease risks
The same genetics that helped some of our ancestors fight the plague is still likely to be at work in our bodies today, potentially providing some of the population with extra protection against respiratory diseases such as COVID-19. However, there is a trade-off, where this same variation is also linked to increased autoimmune diseases such as rheumatoid arthritis and inflammatory bowel disease.
Two new papers demonstrate use of Outbreak.info as one-stop online source for COVID data
While COVID-19 may be transitioning from a “pandemic” to an “endemic” phase, it remains critically important to continue tracking the virus in real-time.
Detecting rapidly mutating bacteria and viruses with AutoPLP
Researchers reporting in ACS Infectious Diseases have developed a procedure that could help researchers catch up to microbes which can rapidly mutate and evade detection and treatment. Their “AutoPLP” technique designs nucleic acid probes to detect new variants quickly, accurately and easily.
Beyond Mendel: FinnGen study sheds new light on well-established theories of genetic inheritance
A large-scale biobank-based study performed in Finland has discovered several new disease genes as well as new insights on how known genetic factors affect disease.
Evolution of uniquely human DNA was a balancing act, study concludes
Humans and chimpanzees differ in only one percent of their DNA. Human accelerated regions (HARs) are parts of the genome with an unexpected amount of these differences.
Model explains how autism arises
The development of autism may now become easier to understand, thanks to an explanatory model presented in a thesis from University of Gothenburg, Sweden.
Head trauma, PTSD may increase genetic variant’s impact on Alzheimer’s risk
The medical community has never researched the simultaneous impact of post-traumatic stress disorder (PTSD), traumatic brain injury (TBI), and genetic risk factors in a large cohort … until now.
Study identifies new dementia risk genes through novel testing approach
A new UCLA-led study has identified multiple new risk genes for Alzheimer’s disease and a rare, related brain disorder by using a combination of new testing methods allowing for mass screening of genetic variants in a single experiment.
New Statistical Method Exponentially Increases Ability to Discover Genetic Insights
A test of the Sum-Share statistical method using only summary-level data found 1,734 genetic variations associated with cardiovascular-related conditions when just one had previously been likely
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.
Sex, Genes and Vulnerability
New work led by researchers in the Blavatnik Institute at Harvard Medical School and at the Broad Institute of MIT and Harvard provides a clear genetic explanation behind the long-standing yet mysterious observation that some diseases occur more often, hit harder or elicit different symptoms in men or women.
Did archaic genetic variants help Melanesians adapt?
Compared with other world groups, the DNA of Melanesian populations carries some of the largest percentage of ancestry from now-extinct Neanderthals and Denisovans. A genomic study of Melanesians suggests that certain genetic variants inherited from archaic human-like species may have helped these modern people adapt to their tropical island environment.
How Many Copies Does It Take to Change a Trait?
New research shows that the number of copies of genes in a poplar tree affects its traits. Scientists developed a group of poplar trees in which different plants have DNA segments that are repeated or deleted.
We Are All Mutants, More or Less
Everyone is a mutant but some are prone to diverge more than others, report scientists at University of Utah Health. A new study published in eLife shows the number of mutations a child has compared to her parents varies dramatically with some people being born with twice as many as others, and that characteristic runs in families.