Mutation

ANU Researchers Make Groundbreaking Discovery in Psoriatic Arthritis Development

ANU researchers have discovered a genetic mutation responsible for the progression of psoriasis to psoriatic arthritis, offering potential advancements in diagnosis and treatment. This groundbreaking finding sheds light on the link between the IKBKB gene mutation and the development of psoriatic arthritis, providing hope for more targeted and effective therapies in the future.

New Genetic Mutation Linked to Severe Combined Immune Deficiency Disorder (SCID)

Researchers have identified a new genetic mutation linked to severe combined immune deficiency disorder (SCID), offering hope for new treatment options. SCID severely compromises the immune system, leaving individuals vulnerable to infections, and advancements in medical science have led to the potential of bone marrow transplants as a solution. This groundbreaking discovery sheds light on the complex genetic abnormalities that lead to SCID and highlights the ongoing need for research in this field.

MIT scientists develop rapid gene-editing screen to identify cancer mutations

MIT scientists have developed a rapid gene-editing screen using prime editing to identify the effects of cancer mutations. This new technique aims to revolutionize the identification of mutations that could be targeted with new cancer therapies, potentially leading to personalized cancer treatments and more effective therapies in the future.

Breakthrough in Genetics: Unraveling the Mystery of Crossover Interference

A recent breakthrough in genetics has unveiled groundbreaking insights into the process of meiosis and crossover, with significant implications for agriculture and breeding. The research at Pohang University of Science and Technology (POSTECH) has provided a breakthrough in understanding the century-old mystery of crossover interference, potentially revolutionizing the field of genetics and agriculture.

Study Finds Mutations in Blood Increase Risk of Acute Kidney Injury in Adults

A recent study led by Vanderbilt University Medical Center has shown that mutations in the blood can increase the risk of acute kidney injury in adults, particularly in the older population. The study, published in Nature Medicine, highlighted the potential for new treatments and prevention strategies for AKI, shedding light on the underlying mechanisms for AKI development. The research focused on clonal hematopoiesis of indeterminate potential (CHIP), which was found to be linked to a 40% higher risk of death from various conditions, making this age group particularly susceptible to AKI. The study involved a meta-analysis of three population-based cohorts and demonstrated a clear association between CHIP and AKI, particularly in patients requiring intensive care.

First DNA study of ancient Eastern Arabia reveals resistance to malaria

The first DNA study of the ancient population of Eastern Arabia has revealed that people developed resistance to malaria following the appearance of agriculture in the region around five thousand years ago. The study also provides unprecedented insights into human history and disease progression in the region, shedding light on the ancestry of ancient populations and the prevalence of the malaria-protective G6PD Mediterranean mutation. The research, published in Cell Genomics, involved experts from multiple universities and research centers.

Groundbreaking Study Identifies the Impact of Radiation on Human Cells

A groundbreaking study led by a Korean research team has revealed the mutational impact of radiation on human and animal cells, providing valuable insights into the precise patterns of mutations induced by radiation. The research, published in the academic journal Cell Genomics, has established the impact of radiation on cells at the molecular level, paving the way for safer and more efficient radiation therapy.

New Cancer Treatment Identifies Patients Likely to Respond to Cancer Drugs

Cancer treatment could identify patients most likely to respond to cancer drugs by Jen Brogan | 1st Feb 2024 | News Tumours with high mtDNA mutations more likely to respond to Opdivo Scientists from the Cancer Research UK Scotland Institute…

Rare Genetic Disorder Causing Extra Fingers and Toes Identified in New Research

A rare disorder causing babies to be born with extra fingers and toes and a range of birth defects has been identified in new research co-led by the University of Leeds. This disorder, caused by a genetic mutation in a…

Study Shows Potential Breakthrough in Heart Disease Treatment Using Skin Cancer Genetics

Biomedical engineers at Duke University have made a groundbreaking discovery that could revolutionize the treatment of heart disease. In a recent study published in the journal Science Advances, researchers demonstrated that a genetic mutation commonly found in skin cancers, specifically…