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Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

26 Apr 2024

Ketone supplement boosts efficacy of prostate cancer immunotherapy

Adding a pre-ketone supplement -; a component of a high-fat, low-carb ketogenic diet -; to a type of cancer therapy in a laboratory setting was highly effective for treating prostate cancer, researchers from the University of Notre Dame found.

26 Apr 2024

Largest study of BRCA1 and BRCA2 carriers refines cancer risk estimates in Asian population

A team of clinician-scientists and scientists from the University of Nottingham (Malaysia campus), National Cancer Centre Singapore (NCCS), Cancer Research Malaysia, Nanyang Technological University, Singapore (NTU Singapore), University of Malaya, University of Cambridge, A*STAR's Genome Institute of Singapore (GIS) and other institutions, have conducted the largest study done to date of BRCA1 and BRCA2 (BReast CAncer Gene 1 and 2) carriers in an Asian population and refined breast and ovarian cancer risk estimates for this population.

26 Apr 2024

Machine learning-powered robot streamlines genetic research process

University of Minnesota Twin Cities researchers have constructed a robot that uses machine learning to fully automate a complicated microinjection process used in genetic research.

26 Apr 2024

Are parental psychiatric disorders related to the risk of autism spectrum disorder in the offspring?

The potential association between psychiatric disorders in parents and the risk of the offspring developing autism spectrum disorder.

26 Apr 2024

Achieving and maintaining ISO 27001 and BS 10012 certifications

In this interview, Dr. Fu Wei, Director of Quality Management Department at BGI Genomics talks to AZoMedical about achieving and maintaining ISO 27001 and BS 10012 certifications.

From BGI Genomics 26 Apr 2024

How body shape influences colorectal cancer risk

Study reveals that specific body shape phenotypes, such as general obesity and central obesity, significantly increase the risk of colorectal cancer, suggesting distinct molecular pathways for different adiposity subtypes.

25 Apr 2024

Good sleep patterns cut heart disease risk, study finds

Persistently favorable sleep patterns may reduce the risk of cardiovascular disease, even in individuals with higher genetic susceptibility.

25 Apr 2024

Researchers uncover mechanism behind mitochondrial dysfunction in Alzheimer's

A team of researchers at Johannes Gutenberg University Mainz (JGU) has identified a mechanism that causes mitochondrial dysfunction in Alzheimer's patients resulting in a reduction of the supply of energy to the brain.

25 Apr 2024

Insilico Medicine's AI-designed drug ISM3412 receives FDA IND approval

Clinical stage artificial intelligence (AI)-driven drug discovery company Insilico Medicine announces that it has received approval from the U.S. Food and Drug Administration for its Investigational New Drug application for ISM3412, a small molecule inhibitor of MAT2A for the potential treatment of MTAP deleted cancers designed with Insilico's generative AI platform.

25 Apr 2024

Genetic variants linked to Parkinson's risk from pesticide exposure

A new UCLA Health study found certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease.

25 Apr 2024

Putting genomic surveillance of pathogens at the forefront of future pandemic preparedness

The Covid-19 pandemic turned the world upside down. In fighting it, one of our most important weapons was genomic surveillance, based on whole genome sequencing, which collects all the genetic data of a given microorganism.

25 Apr 2024

Machine learning system offers new hope for diagnosis of rare genetic disorders

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence.

25 Apr 2024

Does reproduction influence epigenetic aging in younger women?

The association between reproduction and biological aging based on epigenetic clocks.

25 Apr 2024

Genetics studies have a diversity problem that researchers struggle to fix

When he recently walked into the dental clinic at the Medical University of South Carolina donning a bright-blue pullover with "In Our DNA SC" embroidered prominently on the front, Lee Moultrie said, two Black women stopped him to ask questions.

25 Apr 2024

Meta-analysis reveals drivers of antibiotic resistance in infants

A meta-analysis of genetic studies analyzing the microbiota (bacteria in the gut) of 1,275 infants from 10 countries finds that cesarean delivery and antibiotic use are driving the increase of antibiotic resistance genes load among infants, according to new research being presented at this year's ESCMID Global Congress (formerly ECCMID) in Barcelona, Spain (27-30 April).

24 Apr 2024

New system personalizes chemotherapy doses for cancer patients

When cancer patients undergo chemotherapy, the dose of most drugs is calculated based on the patient's body surface area. This is estimated by plugging the patient's height and weight into an equation, dating to 1916, that was formulated from data on just nine patients.

24 Apr 2024

Breast cancer survivors at higher risk of developing second cancers

Survivors of breast cancer are at significantly higher risk of developing second cancers, including endometrial and ovarian cancer for women and prostate cancer for men, according to new research studying data from almost 600,000 patients in England.

24 Apr 2024

CASGEVY gene therapy eliminates vaso-occlusive crises in sickle cell patients

In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) for the treatment of sickle cell disease in patients 12 years and older with recurrent vaso-occlusive crises (VOCs).

24 Apr 2024

Novel lab-grown mini-colons can accurately mimic the development of colorectal tumors

In a breakthrough for cancer research, scientists at EPFL have created lab-grown mini-colons that can accurately mimic the development of colorectal tumors, offering a powerful new tool for studying and testing treatments for the disease.

24 Apr 2024