Mutation News and Research

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Novel model provides a comprehensive framework for studying viral epidemiology and evolutionary dynamics

Understanding the mutation and evolution of viruses (such as SARS-CoV-2) is crucial for effective public health management and response.

12 Apr 2024

Newly discovered genetic variant reduces the odds of developing Alzheimer's disease

Columbia researchers have discovered a genetic variant that reduces the odds of developing Alzheimer's disease by up to 70% and may be protecting thousands of people in the United States from the disease.

10 Apr 2024

CNIC researchers unravel complexities of Andersen-Tawil syndrome

A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) has made a breakthrough discovery in the understanding of cardiac arrhythmias by unraveling the complexities of Andersen-Tawil syndrome (ATS), an extremely rare inherited cardiac disorder.

10 Apr 2024

Baylor study reveals role of newly inherited DNA variants in recessive diseases

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface.

10 Apr 2024

Three early-phase clinical studies show promising initial data for patients with lymphoma, gastric cancers

Three early-phase clinical studies presented by researchers from The University of Texas MD Anderson Cancer Center at the American Association for Cancer Research (AACR) Annual Meeting 2024 show promising initial data for patients with lymphoma, gastric or gastroesophageal junction cancers, and specific molecularly selected tumors.

10 Apr 2024

Specific genetic mutations found to be responsible for Dubin-Johnson syndrome

Researchers in China and Italy have made a significant breakthrough in understanding Dubin-Johnson syndrome (DJS), a rare inherited liver disorder.

9 Apr 2024

Research identifies how leukemia develops resistance to first line treatments

Relapses in a common form of leukemia may be preventable following new research which has identified how the cancer develops resistance to first line treatments.

9 Apr 2024

Researchers elucidate how gene mutation mechanism causes autism

Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism.

9 Apr 2024

Researchers develop first genetic maps for disease-linked DNA repeats

A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington's disease and multiple cancers.

5 Apr 2024

New machine learning model achieves breakthrough in heart disease prediction with over 95% accuracy

A machine learning-based heart disease prediction model (ML-HDPM) that uses various combinations of information and numerous recognized categorization methods.

5 Apr 2024

Lancet Commission predicts sharp increase in global prostate cancer cases

Cases of prostate cancer are projected to double from 1.4 million per year in 2020 to 2.9 million per year by 2040, with low- and middle-income countries (LMICs) predicted to see the highest increases in cases, according to The Lancet Commission on prostate cancer which will be launched by a presentation at the European Association of Urology Congress.

4 Apr 2024

Gene therapy and glycoside drugs offer new hope for polycystic kidney disease treatment

Researchers have shown that dangerous cysts, which form over time in polycystic kidney disease (PKD), can be prevented by a single normal copy of a defective gene.

4 Apr 2024

Ketogenic diet offers hope for infants with drug-resistant epilepsy

A ketogenic diet, which is low in carbohydrates and high in fat, shows promise as an alternative treatment option for infants with drug-resistant epilepsy, finds a new study led by researchers at UCL and Great Ormond Street Hospital for Children (GOSH).

4 Apr 2024

Study identifies microbiota signatures associated with KRAS mutations in colorectal cancer patients

For about 40% of people diagnosed with colorectal cancer (CRC), the tumor carries a mutation in a gene called KRAS. Many of those mutations have been linked to shorter survival and more aggressive forms of disease.

4 Apr 2024

JAX researchers develop a powerful platform to study human health conditions

In humans, the exact same mutation in a specific gene can produce widely different outcomes. It's a bit like adding the same amount of salt to different recipes-;the effect on the finished dish can be quite different, depending on the mix of other ingredients.

3 Apr 2024

Lurie Children's Hospital administers first gene therapy for Duchenne muscular dystrophy in Illinois

On March 27, 2024, Ann & Robert H. Lurie Children's Hospital of Chicago treated its first patient with ELEVIDYS (delandistrogene moxeparvovec-rokl), the first gene therapy for Duchenne muscular dystrophy – a rare, genetic disease characterized by progressive muscle damage and weakness.

3 Apr 2024

Bio-Rad launches first ultrasensitive multiplexed digital PCR assay for breast cancer mutation detection in clinical research

Bio-Rad Laboratories, Inc., a global leader in life science research and clinical diagnostic products, today announced the launch of its first ultrasensitive multiplexed digital PCR assay, the ddPLEX ESR1 Mutation Detection Kit.

From Bio-Rad Laboratories 3 Apr 2024

Mutation News and Research

Novel model provides a comprehensive framework for studying viral epidemiology and evolutionary dynamics

Newly discovered genetic variant reduces the odds of developing Alzheimer's disease

CNIC researchers unravel complexities of Andersen-Tawil syndrome

Baylor study reveals role of newly inherited DNA variants in recessive diseases

Three early-phase clinical studies show promising initial data for patients with lymphoma, gastric cancers

Specific genetic mutations found to be responsible for Dubin-Johnson syndrome

Research identifies how leukemia develops resistance to first line treatments

Researchers elucidate how gene mutation mechanism causes autism

Researchers develop first genetic maps for disease-linked DNA repeats

New machine learning model achieves breakthrough in heart disease prediction with over 95% accuracy

Lancet Commission predicts sharp increase in global prostate cancer cases

Gene therapy and glycoside drugs offer new hope for polycystic kidney disease treatment

Ketogenic diet offers hope for infants with drug-resistant epilepsy

Study identifies microbiota signatures associated with KRAS mutations in colorectal cancer patients

JAX researchers develop a powerful platform to study human health conditions

Lurie Children's Hospital administers first gene therapy for Duchenne muscular dystrophy in Illinois

Bio-Rad launches first ultrasensitive multiplexed digital PCR assay for breast cancer mutation detection in clinical research

Atomic-level structural models of enzymes provide disease insights

miR-205 knockout surprises with enhanced mammary development and cancer insights

New insights into adrenal gland tumor formation

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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