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Genetic variation in people of African ancestry linked to increased risk of diabetes complications

A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine.

25 Jun 2024

Novel genetic predisposition to being overweight or obese identified

Researchers performed a case-control study to compare metabolic changes between individuals homozygous for a loss-of-function genetic variation in small integral membrane protein 1 (SMIM1) and the general population.

25 Jun 2024

Beyond genes, new research explores mechanics and calcium signaling

Using animals to study heart disease doesn't always translate well to human health outcomes, and human heart cells available for research don't work outside the human body.

25 Jun 2024

First child receives skull-mounted epilepsy device in UK clinical trial

Oran, who had been having severe epileptic seizures for eight years and often needed resuscitation, was the first child in the UK to have this device implanted at Great Ormond Street Hospital in October 2023, when he was 12 years old.

24 Jun 2024

KU researchers uncover role of Src gene in nervous system development

Many people are familiar with oncogenes - genes long known to be involved in cancers in humans, such as the gene "Src."

24 Jun 2024

Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a groundbreaking discovery that could significantly advance our understanding of genomic disorders.

21 Jun 2024

New insights into signaling pathways and resistance mechanisms in colorectal cancer

Colorectal cancer (CRC) is a leading cause of cancer-related deaths worldwide. The complexity of its pathogenesis, involving genetic mutations, dysregulated signaling pathways, and compromised immune surveillance, presents significant challenges for effective treatment.

21 Jun 2024

Repurposing anti-retroviral medications for brain tumor treatment: The RETREAT trial

Drugs developed to combat HIV and AIDS are being trialed for the first time in patients with multiple brain tumors.

21 Jun 2024

AI outperforms peers in medical oncology quiz, yet some mistakes could be harmful

The accuracy and safety of large language models (LLMs) in answering medical oncology examination questions.

21 Jun 2024

Unveiling the role of SOS genes in E. coli survival during antibiotic treatment

When E. coli detects damage to its genetic material, it sends out an SOS signal that alters activity inside the cells.

20 Jun 2024

One copy of the Christchurch variant may confer protection against familial Alzheimer's disease

A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an international team that included researchers from two Mass General Brigham hospitals - Mass Eye and Ear and Massachusetts General Hospital (MGH) - reported on the case of a patient who did not develop cognitive impairment until her late 70s, despite being part of a family at extremely high genetic risk for developing early-onset Alzheimer's disease.

20 Jun 2024

Causal variant-targeted ribonucleic acid treatment for congenital melanocytic nevi

A genetic treatment targeting the causal NRAS c.181C>A mutation in congenital melanocytic naevus.

19 Jun 2024

Study: Anti-inflammatory drug celecoxib benefits PIK3CA-mutated colon cancer patients

An analysis of data from a randomized clinical trial for patients with stage 3 colon cancer found that those with PIK3CA mutations who took celecoxib, an anti-inflammatory drug, after surgery lived significantly longer and had longer disease-free survival compared to those without the mutation.

18 Jun 2024

Study reveals overactive PKA protein as driver of fibrolamellar carcinoma

It's been enormously difficult to pinpoint the cause of many cancers - and many seem to have more than one origin. Fibrolamellar carcinoma (FLC), however, is one that scientists thought they had nailed down.

18 Jun 2024

Blood test identifies specific pathologies in frontotemporal dementia, ALS, and PSP

In a study with 991 adults, scientists at DZNE show that the most common forms of frontotemporal dementia (FTD) as well as the neurological diseases amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) can be recognized by blood testing.

18 Jun 2024

Promising gene editing therapy shows hope in sickle cell disease cure

Researchers have presented the latest findings from a clinical trial aimed at discovering a cure for sickle cell disease, a painful genetic blood disorder with limited treatment options.

14 Jun 2024

The hidden genetic switches influencing human height and bone health

In mammals, only 3% of the genome consists of coding genes which, when transcribed into proteins, ensure the biological functions of the organism and the in-utero development of future individuals. But genes do not function alone.

14 Jun 2024

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

13 Jun 2024

Study reveals why EGFR inhibitors fail in some non-smokers with lung cancer

The reason why targeted treatment for non-small cell lung cancer fails to work for some patients, particularly those who have never smoked, has been discovered by researchers from UCL, the Francis Crick Institute and AstraZeneca.

13 Jun 2024

Study sheds light on pediatric DIPG tumor mechanisms

Researchers at the University of Michigan Health Rogel Cancer Center are one step closer to understanding how pediatric DIPG tumors work.

13 Jun 2024

Mutation News and Research

Genetic variation in people of African ancestry linked to increased risk of diabetes complications

Novel genetic predisposition to being overweight or obese identified

Beyond genes, new research explores mechanics and calcium signaling

First child receives skull-mounted epilepsy device in UK clinical trial

KU researchers uncover role of Src gene in nervous system development

Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

New insights into signaling pathways and resistance mechanisms in colorectal cancer

Repurposing anti-retroviral medications for brain tumor treatment: The RETREAT trial

AI outperforms peers in medical oncology quiz, yet some mistakes could be harmful

Unveiling the role of SOS genes in E. coli survival during antibiotic treatment

One copy of the Christchurch variant may confer protection against familial Alzheimer's disease

Causal variant-targeted ribonucleic acid treatment for congenital melanocytic nevi

Study: Anti-inflammatory drug celecoxib benefits PIK3CA-mutated colon cancer patients

Study reveals overactive PKA protein as driver of fibrolamellar carcinoma

Blood test identifies specific pathologies in frontotemporal dementia, ALS, and PSP

Promising gene editing therapy shows hope in sickle cell disease cure

The hidden genetic switches influencing human height and bone health

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

Study reveals why EGFR inhibitors fail in some non-smokers with lung cancer

Study sheds light on pediatric DIPG tumor mechanisms

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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