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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

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

Researchers discover key drivers behind follicular lymphoma's aggressive transformation

New treatment paradigm focuses on reverting cancer cells to normal state

New insights into the exacerbation of psoriasis through specific genetic defects

Focusing on oncogenic driver mutations and resistance mechanisms in the treatment of NSCLC

New genetic system analyzes the underlying mechanisms of CRISPR-based DNA repair outcomes

Breakthrough study offers hope for an effective HIV cure

Study unveils link between oral bacteria and pancreatic cancer development in mice

ANU scientists uncover gene mutation driving psoriasis and psoriatic arthritis

Expanding research and clinical options for children with cancer

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

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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