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Novel cancer-fighting gene therapy enters phase I clinical trial

Researchers from the MDC and Charité have developed a new gene therapy based around a special T-cell receptor that helps the immune system effectively recognize and fight cancer cells.

18 Mar 2021

A complete genetic and clinical analysis of individuals with SCN2A-related disorders

Researchers from Children's Hospital of Philadelphia affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism.

17 Mar 2021

New study aims to develop alternative treatment for posterior eye diseases

Getting poked in the eye with a sharp object is a cringeworthy thought. However, many patients with posterior eye diseases -- back of the eye diseases such as macular degeneration or diabetic retinopathy -- undergo eye injections through the wall of the eye as a medical treatment on a regular basis.

16 Mar 2021

Le Bonheur and UTHSC sign agreement to obtain genetic information from 25,000 DNA samples

As research into genetic causes of disease began to grow, Le Bonheur Pediatrician-in- Chief Jon McCullers, MD, knew it was time to start building a pediatric DNA biorepository.

13 Mar 2021

Whole genome sequencing may guide blood cancer treatment

For certain blood cancers, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), deciding whether patients need an aggressive treatment typically hinges on a set of lab tests to identify genetic changes.

11 Mar 2021

Study shows how mutant huntingtin protein triggers brain cell death

In 1993, scientists discovered that a single mutated gene, HTT, caused Huntington's disease, raising high hopes for a quick cure. Yet today, there's still no approved treatment.

7 Mar 2021

Researchers identify the trigger of key cellular change in amyotrophic lateral sclerosis

Scientists at the Francis Crick Institute and UCL have identified the trigger of a key cellular change in amyotrophic lateral sclerosis (ALS), a type of motor neurons disease.

4 Mar 2021

Researchers lay out bioinformatics bottlenecks that are hindering response to COVID-19 pandemic

A global group of researchers is calling for better integration of viral genetics, bioinformatics, and public health to enable better pandemic response now and better pandemic preparedness in the future.

3 Mar 2021

Scientists report new insights into the development of blood cancers

Utah researchers report significant new insights into the development of blood cancers. In work published today in Blood Cancer Discovery, a journal of the American Association for Cancer Research, scientists describe an analysis of published data from more than 7,000 patients diagnosed with leukemia and other blood disorders.

3 Mar 2021

Study reveals how cells build 'mini-muscles' underneath their nucleus

Research groups at the University of Helsinki uncovered how motor protein myosin, which is responsible for contraction of skeletal muscles, functions also in non-muscle cells to build contractile structures at the inner face of the cell membrane.

2 Mar 2021

Researchers make gametes from xenogenic mouse stem cells

Making gametes such as sperm and eggs from pluripotent stem cells, primitive cells that can make all the tissues, greatly contributes to efficient reproduction of livestock animals and future assisted reproductive medicine. Researchers pave the way to achieve this goal using a body of xenogenic animals.

2 Mar 2021

Researchers explore early stages of ribosome formation to identify new targets for antibiotics

Ribosome formation is viewed as a promising potential target for new antibacterial agents. Researchers from Charité - Universitätsmedizin Berlin have gained new insights into this multifaceted process.

2 Mar 2021

Deep learning-based splice-AI can help predict the onset of Alzheimer's disease

Korea Brain Research Institute (KBRI, President Suh Pann-ghill) announced that the research team led by Dr. Jae-Yeol Joo discovered new cryptic splice variants and SNVs in PLCg1 gene of AD-specific models for the first time using Splice-AI.

1 Mar 2021

Study explores individual differences of SARS-CoV-2 infection in ACE2-expressing stem cells

The clinical phenotype of COVID-19, caused by SARS-CoV-2, is remarkable for its wide range of severity among individual patients. Genetic variations are known to mediate part of these differences. To examine these differences, researchers in a new study used human induced pluripotent stem cells (iPSCs) from different genetically diverse individuals. These cells are used to model genetic disease since they contain the donor’s genetic information. Researchers use a panel of iPSCs from over 500 individuals. The researchers preferred undifferentiated iPSCs to reduce the time required to differentiate them, especially since infection is not always reliable.

25 Feb 2021

Insights into molecular tools shared across coronaviruses could provide potential target for COVID-19

Coronaviruses exploit our cells so they can make copies of themselves inside us. After they enter our cells, they use our cell machinery to make unique tools of their own that help them generate these copies.

22 Feb 2021

Cancer cell vulnerability could be a potential target for interrupting tumor growth

Unraveling the unique characteristics of cancer cells and finding less-harmful ways to stop their growth have long been a focus for cancer researchers worldwide.

22 Feb 2021

Researchers use functional test to measure the effect of inherited variants in BRCA2 cancer gene

Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variants in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing to determine the clinical importance of many BRCA2 variants of uncertain significance (VUS).

20 Feb 2021

Genetic Information News and Research

Novel cancer-fighting gene therapy enters phase I clinical trial

A complete genetic and clinical analysis of individuals with SCN2A-related disorders

New study aims to develop alternative treatment for posterior eye diseases

Le Bonheur and UTHSC sign agreement to obtain genetic information from 25,000 DNA samples

Whole genome sequencing may guide blood cancer treatment

Study shows how mutant huntingtin protein triggers brain cell death

Researchers identify the trigger of key cellular change in amyotrophic lateral sclerosis

Researchers lay out bioinformatics bottlenecks that are hindering response to COVID-19 pandemic

Scientists report new insights into the development of blood cancers

Study reveals how cells build 'mini-muscles' underneath their nucleus

Researchers make gametes from xenogenic mouse stem cells

Researchers explore early stages of ribosome formation to identify new targets for antibiotics

Deep learning-based splice-AI can help predict the onset of Alzheimer's disease

Study explores individual differences of SARS-CoV-2 infection in ACE2-expressing stem cells

Insights into molecular tools shared across coronaviruses could provide potential target for COVID-19

Cancer cell vulnerability could be a potential target for interrupting tumor growth

Researchers use functional test to measure the effect of inherited variants in BRCA2 cancer gene

Researchers use high-resolution imaging to observe HIV infection process in the cell nucleus

People with ADHD and DBDs share genetic variants associated with risky behaviors

Scientists discover new immunotherapy target for malignant brain tumors

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