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Study provides new insights into the molecular causes of rare, fatal hereditary disease

A study entitled "IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport", now published in the open access journal "Cellular and Molecular Life Sciences", provides new insights into the molecular causes of a rare and usually fatal hereditary disease called MEDS1.

28 Oct 2024

Research identifies respiratory transmission potential of H5N1 virus

A highly pathogenic avian influenza (HPAI) H5N1 virus, isolated from the eye of a farm worker who became infected through contact with dairy cows, was lethal in mice and ferrets infected in a high-containment laboratory environment, according to a new study in Nature.

28 Oct 2024

New model sheds light on the genetic roots of polygenic diseases

Many statistical models and algorithms used by scientists can be imagined as a "black box." These models are powerful tools that give accurate predictions, but their internal workings are not easily interpretable or understood.

28 Oct 2024

Yourgene Health Cystic Fibrosis Base assay receives IVDR accreditation

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, announces that it has received accreditation under the new EU requirements of the in vitro diagnostic regulation (IVDR) for the Yourgene® Cystic Fibrosis Base assay. The Yourgene Cystic Fibrosis Base assay is a Class C in vitro medical device under IVDR and is intended for use by healthcare professionals within a molecular laboratory environment.

From Yourgene Health 28 Oct 2024

High-throughput imaging platform reveals impact of mutations on protein location

The team developed a high-throughput imaging platform to assess the influence of nearly 3,500 mutations on protein location. They found that roughly one in six disease-causing mutations led to proteins ending up in the wrong location in the cell.

26 Oct 2024

Researchers uncover why the TP53 gene is especially prone to mutations in cancer

Mutations in the fragile TP53 gene impair p53's tumor-suppressive functions, making it more vulnerable than other tumor suppressors.

24 Oct 2024

Targeted therapy and immunotherapy improve outcomes in rare thyroid cancer

Researchers from The University of Texas MD Anderson Cancer Center demonstrated that anti-PD-L1 immunotherapy in combination with mutation-directed targeted therapy extended overall survival (OS) in patients with anaplastic thyroid carcinoma (ATC). Findings from the Phase II single center study published today in JAMA Oncology.

24 Oct 2024

PIONEER software breaks down barriers in protein-protein interaction research

Scientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identifying key protein-protein interactions to treat with medication.

24 Oct 2024

Researchers create mini-brains to study autism and test new treatments

Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.

23 Oct 2024

Breakthrough research reveals neural basis of eating behavior

Speaking, singing, coughing, laughing, yelling, yawning, chewing - we use our jaws for many purposes. Each action requires a complex coordination of muscles whose activity is managed by neurons in the brain.

23 Oct 2024

Groundbreaking findings on TET2 pathway open doors for targeted blood cancer treatments

Approximately 30% of individuals with myeloid malignancy diseases have a mutation in a certain gene called tet methylcytosine dioxygenase 2 (TET2).

23 Oct 2024

New drug WNTinib shows promise in treating pediatric liver cancer

A new drug called WNTinib can delay the growth of tumors and improve survival in hepatoblastoma, a type of liver cancer that occurs in young children.

22 Oct 2024

New antibody targets cancer-causing HER2 mutations

For some proteins, a single mutation, or change in its DNA instructions, is all it takes to tip the balance between functioning normally and causing cancer.

22 Oct 2024

Novel antibodies show promise for tumor targeting and RAD51 inhibition

A new research paper was published in Oncotarget's Volume 15 on October 1, 2024, entitled, "Next-generation cell-penetrating antibodies for tumor targeting and RAD51 inhibition."

21 Oct 2024

Scientists map the genetic landscape of drug resistance in cancers

All cancer mutations that cause drug resistance fall into one of four categories. New research has detailed each type, helping to uncover targets for drug development and identify potential effective second-line therapies.

18 Oct 2024

Researchers identify protein linked to cardiovascular health in progeria

A new University of Maryland-led discovery could spur the development of new and improved treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder with no known cure that causes accelerated aging in children.

18 Oct 2024

Study reveals gender differences in Rett syndrome progression

A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls.

17 Oct 2024

Adenine base editors show potential to correct X-CGD-causing mutations

A collaborative effort between investigators at the National Institutes of Health's National Institute of Allergy and Infectious Diseases (NIAID) and Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham healthcare system, demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder characterized by high susceptibility to infections.

16 Oct 2024

Study reveals genetic factors affecting birth sex ratios

Each year, roughly the same numbers of boys and girls are born.

16 Oct 2024

New drug targets identified for retinitis pigmentosa therapies

An international team of researchers has identified new drug targets for therapies that could benefit patients with different forms of retinitis pigmentosa and other inherited retinal diseases.

16 Oct 2024