Mutation News and Research

RSS

Beckman Coulter Life Sciences and Rarity Bioscience AB Partnership Brings Molecular Research to Flow Cytometry

Innovative superRCA technology from Rarity Bioscience AB enhances flow cytometry, expanding oncology research possibilities and improving mutation detection.

From Beckman Coulter Life Sciences - Flow Cytometry 5 Mar 2025

New approach to tau protein clearance offers hope for Alzheimer's treatment

USC Stem Cell scientists discover a new way to rid cells of toxic tau protein in a study involving mice and lab-grown human “mini-brains,” known as organoids.

5 Mar 2025

Co-occurring mutations may limit effectiveness of KRAS G12C inhibitors in colorectal and pancreatic cancer

Colorectal cancer and pancreatic ductal adenocarcinoma that harbored the KRAS G12C mutation often carried other genetic alterations that can be associated with resistance to KRAS G12C inhibitors, despite no prior treatment with this therapy, according to recent results from a large multidatabase analysis.

3 Mar 2025

Pioneering the world’s first CRISPR medicine for sickle cell disease

When Vijay Sankaran was an MD-PhD student at Harvard Medical School in the mid-2000s, one of his first clinical encounters was with a 24-year-old patient whose sickle cell disease left them with almost weekly pain episodes.

3 Mar 2025

Study demonstrates successful gene therapy for maple syrup urine disease

A study led by UMass Chan researchers demonstrated that a gene therapy to correct a mutation that causes maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated expression of the affected genes and stabilized biomarkers in a calf as well as in mice.

28 Feb 2025

European project aims to develop new treatments for rare eye diseases

The Ocular Neurobiology laboratory at the Institute for Neurosciences, a joint center of Miguel Hernández University (UMH) in Elche and the Spanish National Research Council (CSIC), is participating in the European project RESTORE VISION, an ambitious initiative aimed at developing new treatments for rare eye diseases such as aniridia and neurotrophic keratopathy.

28 Feb 2025

Genetic mutation offers hope for better rheumatoid arthritis treatments

Research led by York University's Faculty of Health reveals how a specific mutation in a protein called TRAF1 can shut down an overactive immune response, dramatically reducing inflammation in mice.

27 Feb 2025

New gene therapy strategy could cure COPA Syndrome

Scientists compared five families and multiple generations to find a gene variant that prevents COPA Syndrome and opens the door to a new gene therapy for the condition.

27 Feb 2025

Discovery of new bat flu strain with potential to infect other species

Scientists have identified a novel influenza A virus (H18N12) in fishing bats in the Colombian Caribbean, revealing genetic reassortment events that impact viral adaptability and host transmission.

25 Feb 2025

New research reveals how cell state affects leukemia progression

Myeloid leukaemias are among the most aggressive blood cancers and have low survival rates. Today, leukaemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment.

25 Feb 2025

Researchers challenge previous understanding of tumor growth in NF-1

Despite what was previously thought, new research has shown that genetic changes alone cannot explain why and where tumors grow in those with genetic condition neurofibromatosis type 1 (NF-1).

25 Feb 2025

Study challenges role of BRCA1 mutation in prostate cancer initiation

Mutations in the BRCA1 gene that are either inherited (germline) or acquired (somatic) might not be key to the initiation of prostate cancer, as previously thought, suggests the first study of its kind, published online in the open access journal BMJ Oncology.

24 Feb 2025

Researchers uncover a surprising layer of complexity in aldosterone-producing tumors

Kyushu University researchers have uncovered a surprising layer of complexity in aldosterone-producing adenomas (APAs)-adrenal gland tumors that drive high blood pressure.

24 Feb 2025

Innovative ctDNA model could improve cancer progression monitoring

In metastatic cancer surveillance, monitoring the actual concentrations of circulating tumor DNA (ctDNA) may be critical. Researchers showed that absolute ctDNA concentration thresholds can be defined to rule out or predict impending cancer progression.

24 Feb 2025

Study finds key p53 targets for future cancer treatment

A new research paper was published in Oncotarget, Volume 16, on February 18, 2025, titled "Robust p53 phenotypes and prospective downstream targets in telomerase-immortalized human cells."

24 Feb 2025

LUC7 proteins play crucial role in efficient RNA splicing

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.

21 Feb 2025

Boston University professor receives grant for preeclampsia drug discovery research

Wendy Kuohung, MD, associate professor of obstetrics & gynecology at Boston University Chobanian & Avedisian School of Medicine, has been awarded a two-year, Discovery Research Grant from March of Dimes.

21 Feb 2025

New approach shows promise for treating fragile X syndrome

Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused autism spectrum disorder.

20 Feb 2025

Inhalable gene therapy tested for cystic fibrosis treatment in the UK and Europe

An inhalable medicine with the potential to improve lung disease in people with cystic fibrosis, irrespective of their mutation type, is being tested in human trials in the UK and Europe.

20 Feb 2025

Genetic mutation linked to schizophrenia in both humans and mice

A genetic mutation found in two human patients with schizophrenia also increased schizophrenia-related behaviors in mice with the same mutation, a rare finding of a direct genetic link to psychosis, report researchers at the University of Illinois Urbana-Champaign and colleagues in Massachusetts and Germany.

19 Feb 2025