Genomics

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Researchers unravel genetic changes in a region that controls the activity of the genome

Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, and in doing so they have found a key that could unlock other causes of rare conditions.

8 Nov 2022

Chromosomal microarray analysis could help identify the cause of SIDS or SUDC in older children

A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained death in childhood (SUDC), finds a study led by Boston Children's Hospital.

7 Nov 2022

DNA barcoding shows how cancer cells evade the immune system's defenses

Some cancer cells can deploy parallel mechanisms to evade the immune system's defences as well as resist immunotherapy treatment, according to a new study from the Garvan Institute of Medical Research.

7 Nov 2022

Personalized whole genome sequencing approach could double the diagnostic rates of rare diseases

Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.

7 Nov 2022

UAB researchers report lack of predictability for fecal microbial transplants without prior antibiotic therapy

A fecal microbial transplant - giving a recipient fecal matter from a donor to change the recipient's gut microbial community in the colon - has been a successful last resort therapy for people with recurrent Clostridium difficile infection after multiple rounds of suppressive antibiotics have eliminated the recipient microbial community.

4 Nov 2022

New evaluation data shows the clinical utility of SOPHiA DDM Dx HRD Solution

SOPHiA GENETICS, a cloud-native software company in the healthcare space, debuted new data at the European Society of Gynaecological Oncology (ESGO) Congress as part of a poster (#PA-065) presented by Prof. Alexandre Harlé of the Institut de Cancérologie de Lorraine, France.

3 Nov 2022

Parental discord linked to children's genetic risk for alcohol problems

Parents can transmit a genetic risk for alcohol problems to their children not only directly, but also indirectly via genetically influenced aspects of the home environment, such as marital discord or divorce, according to a Rutgers researcher.

3 Nov 2022

Whole-genome sequencing is a more comprehensive prenatal test l BGI Perspectives

BGI-Research and the Maternal and Child Health Hospital of Hubei Province (MCHH) published whole-genome sequencing research results in npj Genomic Medicine.

From BGI Genomics 3 Nov 2022

Research reveals how whole-genome sequencing may enhance detection of fetal CNS anomalies

BGI-Research and the Maternal and Child Health Hospital of Hubei Province (MCHH) published whole-genome sequencing research results in npj Genomic Medicine.

3 Nov 2022

New control system could be used to finely tune the production of useful proteins

Using an approach based on CRISPR proteins, MIT researchers have developed a new way to precisely control the amount of a particular protein that is produced in mammalian cells.

1 Nov 2022

Study provides more nuanced insights into RNA modifications by A-to-I editing during brain development

Mount Sinai researchers have cataloged thousands of sites in the brain where RNA is modified throughout the human lifespan in a process known as adenosine-to-inosine (A-to-I) editing, offering important new avenues for understanding the cellular and molecular mechanisms of brain development and how they factor into both health and disease.

1 Nov 2022

Ancient genomes shed light on previously unknown aspect of human evolution

The use of ancient DNA, including samples of human remains around 45,000 years old, has shed light on a previously unknown aspect of human evolution.

31 Oct 2022

Faulty gene may explain why some people gain excessive weight despite normal food intake

A faulty gene, rather than a faulty diet, may explain why some people gain excessive weight even when they don't eat more than others, UT Southwestern researchers at the Center for the Genetics of Host Defense have discovered.

28 Oct 2022

Yeast reveals a key mechanism in how genes are controlled

Yeast, that simple organism essential to making beer and bread, has revealed for Cornell University researchers a key mechanism in how genes are controlled.

28 Oct 2022

New breakthrough in understanding how deletion of certain genes can lead to cancer growth

Genetic mutations kick start cancers. Some mutations shuffle the genetic code, others come from the deletion of key genes.

28 Oct 2022

Proof-of-principle study: Novel tool advances potential way to deliver gene therapy

Johns Hopkins Medicine researchers say they have successfully used a cell's natural process for making proteins to "slide" genetic instructions into a cell and produce critical proteins missing from those cells.

28 Oct 2022

Ancient viral DNA in human genomes protects cells against present-day viruses

Viral DNA in human genomes, embedded there from ancient infections, serve as antivirals that protect human cells against certain present-day viruses, according to new research.

27 Oct 2022

Using stem cell cloning to identify the origin of lethal stomach and esophageal cancers

The University of Houston is leading a team of cancer researchers and experts in stem cell cloning to identify the origin of two very lethal cancers of the stomach and esophagus - esophageal adenocarcinoma (EAC) and intestinal gastric cancer (iGC).

27 Oct 2022

Researchers find a switch to regulate the diabetes-causing gene

Researchers at the Centre for Genomic Regulation and Imperial College London have found a switch that regulates the activity of a gene that causes diabetes.

27 Oct 2022

Large genome-wide association study on nonalcoholic fatty liver disease

Scientists at deCODE genetics in Iceland have discovered rare, protective loss-of-function variants that point to potential drug targets for nonalcoholic fatty liver disease (NAFLD).

24 Oct 2022

Genomics

Researchers unravel genetic changes in a region that controls the activity of the genome

Chromosomal microarray analysis could help identify the cause of SIDS or SUDC in older children

DNA barcoding shows how cancer cells evade the immune system's defenses

Personalized whole genome sequencing approach could double the diagnostic rates of rare diseases

UAB researchers report lack of predictability for fecal microbial transplants without prior antibiotic therapy

New evaluation data shows the clinical utility of SOPHiA DDM Dx HRD Solution

Parental discord linked to children's genetic risk for alcohol problems

Whole-genome sequencing is a more comprehensive prenatal test l BGI Perspectives

Research reveals how whole-genome sequencing may enhance detection of fetal CNS anomalies

New control system could be used to finely tune the production of useful proteins

Study provides more nuanced insights into RNA modifications by A-to-I editing during brain development

Ancient genomes shed light on previously unknown aspect of human evolution

Faulty gene may explain why some people gain excessive weight despite normal food intake

Yeast reveals a key mechanism in how genes are controlled

New breakthrough in understanding how deletion of certain genes can lead to cancer growth

Proof-of-principle study: Novel tool advances potential way to deliver gene therapy

Ancient viral DNA in human genomes protects cells against present-day viruses

Using stem cell cloning to identify the origin of lethal stomach and esophageal cancers

Researchers find a switch to regulate the diabetes-causing gene

Large genome-wide association study on nonalcoholic fatty liver disease

Evolving spectrophotometry for modern biopharma workflows

Scaling B-cell cloning workflows for antibody development

Fluidics in Modern Healthcare & Medical Device Innovation

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