by RIKEN A new study by researchers at the RIKEN Center for Integrative Medical Science in Japan reports differences in blood cell mutations between Japanese and European populations. The study found that these pre-clinical mutations were strongly associated with different types of cancers and can explain why Europeans have higher rates of chronic lymphocytic leukemia,...
Category: <span>Genetics</span>
Genomes front and center of rare disease diagnosis
by National Institute for Health Research BioResource A research program pioneering the use of whole-genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease. Whole genome sequencing is the technology used by the 100,000 Genomes Project, a service set up by the government which aims to introduce routine...
Scientists uncover new genetic mutations linked to autism spectrum disorder
by Sanford Burnham Prebys Medical Discovery Institute Scientists at Sanford Burnham Prebys Medical Discovery Institute and Radboud University Medical Center in the Netherlands have identified mutations in a gene called CNOT1 that affect brain development and impair memory and learning. The study is the first to link neurodevelopmental delays with CNOT1, suggesting that drugs that...
GENES MAY EXPLAIN WHY SOME PEOPLE LOVE TO HUG
Genetics play a significant role in how affectionate women are, but the same can’t be said for men, according to a new study of twins. Researchers examined differences in the level of affection people express in an effort to determine how much affectionate behavior is influenced by genetics versus a person’s environment. MEN’S VARIATION IN...
Certain genes that predispose to cancer also affect the immune system, study shows
The study shows that the involvement of certain genes that predispose to cancer also affects the immune system, which could facilitate tumor growth. In the specific case of breast cancer, the involvement of the SH2B3 gene, corresponding to a lymphocyte protein, increases the predisposition to develop cancer. The idea that the immune system “monitors and...
Researchers say genetics may determine wound infection and healing
A recent study led by Texas Tech’s Department of Biological Sciences and Natural Science Research Laboratory determined that certain genes are associated with the pathogens that infect chronic wounds and hinder the healing process. CALEB PHILLIPS; ASSISTANT PROFESSOR OF BIOLOGICAL SCIENCES AND DIRECTOR OF THE PHILLIPS LABORATORY, COLLEGE OF ARTS & SCIENCES; CURATOR OF GENETIC...
ASCO 2020: UK-first study shows feasibility of genetic screening for prostate cancer
Genetic screening for prostate cancer in GP surgeries could be effective at picking up otherwise undiagnosed cases of the disease, a new pilot study shows. Researchers ‘barcoded’ men for their genetic risk of prostate cancer by testing each for 130 DNA changes – and gave those at higher risk follow-up checks. Their study found that...
Scientists rescue mini retinas from eye disease via new gene therapy approach
Scientists have developed a new gene therapy approach that offers tremendous promise for one day treating an eye disease that leads to blindness and affects thousands of people across the globe. Researchers from Trinity College Dublin and University College London (UCL) teamed up to pool their expertise in genetics, virology and ophthalmology, beginning the journey...
Researchers identify new genetic defect linked to ALS
by Deborah Kotz, University of Maryland School of Medicine Researchers at the University of Maryland School of Medicine (UMSOM) have identified how certain gene mutations cause amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The pathway identified by the researchers may also be responsible for a certain form of dementia related to ALS....
Overactive enzyme causes hereditary hypertension
by Max Delbrück Center for Molecular Medicine A Turkish family from a village near the Black Sea caught the attention of medical researchers in the early 1970s, when a physician discovered that many members of this large family had both unusually short fingers and astronomically high blood pressure, sometimes twice as high as that of...