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CRISPR-based gene-editing therapy could offer hope for people with inherited high LDL cholesterol

A single infusion of a CRISPR-based gene-editing therapy significantly reduced low-density lipoprotein cholesterol (LDL, the "bad cholesterol") in people who carry one gene for the inherited condition that results in very high LDL cholesterol levels and a high risk of heart attack at an early age, according to late-breaking science presented today at the American Heart Association's Scientific Sessions 2023.

13 Nov 2023

Pioneering study finds predictive biomarker in lung adenocarcinoma

The potential of the transcriptome of tumor-adjacent normal lung tissue in predicting the prognosis of lung cancer.

13 Nov 2023

JAK inhibitors and tocilizumab elicit better response rates in VEXAS syndrome

New research at ACR Convergence 2023, the American College of Rheumatology's (ACR) annual meeting, found that JAK inhibitors (JAKi) and tocilizumab elicited better response rates in VEXAS syndrome compared to other targeted therapies.

7 Nov 2023

Study provides insights into the epidemiology and genetics of clonal hematopoiesis

A comprehensive new study from deCODE genetics, a subsidiary of Amgen, published today in Nature Genetics, provides insights into the epidemiology and somatic and germline genetics of clonal hematopoiesis.

7 Nov 2023

Omicron variant BA.2.86 spreads faster, but current antivirals hold the line

Researchers discover the BA.2.86 Omicron lineage with higher transmission potential than current dominant strains, yet show that existing antivirals remain effective. Despite its higher infectivity, BA.2.86 exhibits lower pathogenicity in hamsters, indicating decreased replication capacity may lead to less severe infections.

7 Nov 2023

UTHSC's drug candidate for advanced prostate cancer goes to first clinical trial

A drug candidate developed by researchers at the University of Tennessee Health Science Center for advanced metastatic castration-resistant prostate cancer is now in its first clinical trial.

6 Nov 2023

Unraveling the role of HER2 mutant alleles in breast cancer

A new editorial paper was published in Oncotarget's Volume 14 on October 31, 2023, entitled, "The uncharted role of HER2 mutant alleles in breast cancer."

6 Nov 2023

Researchers announce a new genetic classification system for gastric cancer

Professor Sang Cheul Oh of the Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Professor Sang‑Hee Kang of the Department of Surgery, Korea University's Guro Hospital, and Professor Sun Young Yim of the Division of Gastroenterology and Hepatology, Department of Internal Medicine, Korea University College of Medicine announced a new genetic classification system for gastric cancer by a multicenter study with the University of Texas MD Anderson Cancer Center.

6 Nov 2023

Cutting-edge 'precision medicine' shows great potential to improve diabetes care

Cutting-edge “precision medicine” has great potential to advance the diagnosis, treatment and ultimate prevention of different forms of diabetes, an international coalition of scientists reports in a sweeping assessment of the state of the field around the world.

6 Nov 2023

Atlas of cancer's hidden rules: Unveiling the transcriptomic and epigenetic secrets across 11 tumors

Researchers have mapped the complex epigenetic and transcriptomic landscape of cancer, revealing key regulatory elements across 11 tumor types that could unlock new insights into cancer progression and metastasis.

5 Nov 2023

Using ripretinib and surgery to manage recurrent gastrointestinal stromal tumor

A new case report was published in Oncoscience (Volume 10) on September 20, 2023, entitled, "Multi-disciplinary management of recurrent gastrointestinal stromal tumor harboring KIT exon 11 mutation with the switch-control kinase inhibitor ripretinib and surgery."

3 Nov 2023

Study sheds light on origins of breast cancer in people with BRCA2 mutations

A pioneering study led by Professor Ashok Venkitaraman from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore and Dr Mona Shehata from the University of Cambridge (UK) has uncovered vital insights into the distinct effects of BRCA2 mutations on breast tissue cells, shedding light on early breast cancer development in people with BRCA2 mutations.

1 Nov 2023

New study provides insights about mosaic chromosomal alterations in diverse populations

As people age, the DNA in their cells begins to accumulate genetic mutations. Mosaic chromosomal alterations (mCAs), a category of mutations acquired in blood cells, are linked with a 10-fold increased risk of developing blood cancer.

1 Nov 2023

New gene editing method creates first mice with human-like COVID-19

Researchers have genetically engineered the first mice that get a human-like form of COVID-19, according to a study published online November 1 in Nature.

1 Nov 2023

Sickle cell disease patients willing to accept high risks for gene therapy cure

Individuals living with severe sickle cell disease (SCD) are highly interested in new, potentially curative gene therapy treatments and are willing to accept associated risks for a chance at a cure, according to a study published today in Blood Advances.

31 Oct 2023

Pilot Awards for Global Brain Health Leaders awarded to encourage innovative dementia research

Today, the Alzheimer's Association, Global Brain Health Institute (GBHI), and the UK-based Alzheimer's Society announced the most recent awardees of the Pilot Awards for Global Brain Health Leaders, a competitive funding initiative dedicated to nurturing efforts and improving outcomes in the fields of brain health and dementia.

31 Oct 2023

New MECP2 gene variant identified and characterized in Rett syndrome

Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive disability.

30 Oct 2023

Study unveils new approach to more precise, long-lasting, and less toxic cancer treatment

For too long, cancer treatment has been a double-edged sword – the very treatments designed to kill cancer cells often wrought havoc on healthy ones too.

30 Oct 2023

New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Canadian researchers develop a cell-free DNA-based multimodal assay for early cancer detection in patients with Li-Fraumeni Syndrome, a high-cancer-risk condition. The assay outperforms conventional methods, promising more sensitive and less invasive cancer surveillance.

29 Oct 2023

Loss of structural protein ACTL7B blocks spermatogenesis in male mice

Mature spermatozoa are characterized by an head, midpiece and a long tail for locomotion. Now, researchers from the University Hospital Bonn (UKB) and the Transdisciplinary Research Unit "Life & Health" at the University of Bonn have found that a loss of the structural protein ACTL7B blocks spermatogenesis in male mice.

27 Oct 2023

Mutation News and Research

CRISPR-based gene-editing therapy could offer hope for people with inherited high LDL cholesterol

Pioneering study finds predictive biomarker in lung adenocarcinoma

JAK inhibitors and tocilizumab elicit better response rates in VEXAS syndrome

Study provides insights into the epidemiology and genetics of clonal hematopoiesis

Omicron variant BA.2.86 spreads faster, but current antivirals hold the line

UTHSC's drug candidate for advanced prostate cancer goes to first clinical trial

Unraveling the role of HER2 mutant alleles in breast cancer

Researchers announce a new genetic classification system for gastric cancer

Cutting-edge 'precision medicine' shows great potential to improve diabetes care

Atlas of cancer's hidden rules: Unveiling the transcriptomic and epigenetic secrets across 11 tumors

Using ripretinib and surgery to manage recurrent gastrointestinal stromal tumor

Study sheds light on origins of breast cancer in people with BRCA2 mutations

New study provides insights about mosaic chromosomal alterations in diverse populations

New gene editing method creates first mice with human-like COVID-19

Sickle cell disease patients willing to accept high risks for gene therapy cure

Pilot Awards for Global Brain Health Leaders awarded to encourage innovative dementia research

New MECP2 gene variant identified and characterized in Rett syndrome

Study unveils new approach to more precise, long-lasting, and less toxic cancer treatment

New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Loss of structural protein ACTL7B blocks spermatogenesis in male mice

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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