Genomics News and Research

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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach.

12 Jul 2021

New genomics workbook helps people use their family history to assess disease risks

Researchers at the National Human Genome Research Institute, part of the National Institutes of Health, have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.

8 Jul 2021

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.

8 Jul 2021

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics.

8 Jul 2021

Common anti-coagulant drug could treat emerging variants of SARS-CoV-2

QUT PhD researcher Zachariah Schuurs said the research team had identified a new binding site on the SARS-CoV-2 spike protein.

7 Jul 2021

Simple blood tests may help prevent inaccuracy in the diagnosis of severe malaria

Using simple blood tests could help researchers identify children who have been misidentified as having severe malaria, according to a study published today in eLife.

6 Jul 2021

Comprehensive genetic study provides new insights on cleft lip and palate

Cleft lip and palate is one of the most common congenital malformations. Its causes are mainly genetic. However, it is still largely unknown exactly which genes are affected.

6 Jul 2021

UB scientists publish a detailed guide for producing mature human cells in a mouse embryo

A year after University at Buffalo scientists demonstrated that it was possible to produce millions of mature human cells in a mouse embryo, they have published a detailed description of the method so that other laboratories can do it, too.

2 Jul 2021

New study to test the scalability of offering preventive DNA screening to young adults for cancer risk

A landmark new DNA screening study to identify cancer risk in young adults will go ahead, after Monash University researcher Associate Professor Paul Lacaze was awarded a $2.97 million Medical Research Future Fund (MRFF) grant today.

2 Jul 2021

Genetic variants in a neuro-associated gene cause neurodevelopmental disorder, finds study

Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect how the brain functions.

2 Jul 2021

Hi-tech lab taps advanced technology to boost Singapore's future pandemic response

Nanyang Technological University, Singapore (NTU Singapore) and Pathnova Laboratories, a medical diagnostic company backed by Temasek Life Sciences Accelerator and headquartered in Temasek Life Sciences Laboratory, is contributing to Singapore's COVID-19 diagnostic capability through its partnership in a new clinical diagnostic laboratory.

2 Jul 2021

Flinders University trial to evaluate new blood test for personalized cancer treatment

A blood test to help guide the treatment of oesophageal, stomach and bowel cancers will be evaluated in a new Flinders University trial set to get underway.

1 Jul 2021

ERS Genomics and Nippon Gene sign CRISPR/Cas9 license agreement

ERS Genomics Limited, which was formed to provide broad access to the foundational CRISPR/Cas9 intellectual property co-owned by Dr. Emmanuelle Charpentier, and Nippon Gene Co., Ltd (Nippon Gene), a manufacturer of genetic engineering research reagents and diagnostic reagents for humans, animals, and plants, today announced a non-exclusive license agreement granting Nippon Gene access to ERS Genomics’ CRISPR/Cas9 patent portfolio.

1 Jul 2021

Widespread SARS-CoV-2 mutation escapes vaccine- and infection-induced CD8 T-cell responses

Researchers in the UK have warned that a widespread mutation that has arisen in the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) appears to escape recognition by CD8 T-cell responses in both convalescent patients and recipients of the current coronavirus disease 2019 (COVID-19) vaccines.

29 Jun 2021

New study investigates alternative ways to prevent, treat kidney infections

Ten IU School of Medicine researchers out of a team of 11 scientists, are responsible for the findings of a new study they conducted to investigate alternative ways to treat kidney infections.

29 Jun 2021

New discovery could yield a potential new treatment for breast cancer

A discovery by a team of researchers, led by a Geisinger professor, could yield a potential new treatment for breast cancer.

29 Jun 2021

RAMBO can cut indexing times for huge DNA databases

Rice University computer scientists are sending RAMBO to rescue genomic researchers who sometimes wait days or weeks for search results from enormous DNA databases.

28 Jun 2021

New book improves understanding of rare disease genetics using genomic approaches

In 2018, Dr. Claudia Gonzaga-Jáuregui, who years before had completed her doctorate studies in Dr. James R. Lupski's lab at Baylor College of Medicine, received an email from an editor at Elsevier's Academic Press with a proposal that immediately caught her attention.

25 Jun 2021

City of Hope researchers identify how breast cancer cells acquire resistant traits

City of Hope, a world-renowned cancer research and treatment center, has identified how cancer cells in patients with early-stage breast cancer change and become resistant to hormone or combination therapies, according to a new study published in Nature Cancer.

24 Jun 2021

A study of circulating biomarkers in hospitalized patients infected with SARS-CoV-2 alpha variant

Now, a new study published on the medRxiv* preprint server proposes a rapid method to identify the mutations in B.1.1.7 (N501Y mutation and H69/V70 deletion) and the impact of this variant on various biomarkers in hospitalized patients. This is the first study that correlates the biomarker levels to SARS-CoV-2 variants.

23 Jun 2021

Genomics News and Research

Further Reading

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

New genomics workbook helps people use their family history to assess disease risks

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Common anti-coagulant drug could treat emerging variants of SARS-CoV-2

Simple blood tests may help prevent inaccuracy in the diagnosis of severe malaria

Comprehensive genetic study provides new insights on cleft lip and palate

UB scientists publish a detailed guide for producing mature human cells in a mouse embryo

New study to test the scalability of offering preventive DNA screening to young adults for cancer risk

Genetic variants in a neuro-associated gene cause neurodevelopmental disorder, finds study

Hi-tech lab taps advanced technology to boost Singapore's future pandemic response

Flinders University trial to evaluate new blood test for personalized cancer treatment

ERS Genomics and Nippon Gene sign CRISPR/Cas9 license agreement

Widespread SARS-CoV-2 mutation escapes vaccine- and infection-induced CD8 T-cell responses

New study investigates alternative ways to prevent, treat kidney infections

New discovery could yield a potential new treatment for breast cancer

RAMBO can cut indexing times for huge DNA databases

New book improves understanding of rare disease genetics using genomic approaches

City of Hope researchers identify how breast cancer cells acquire resistant traits

A study of circulating biomarkers in hospitalized patients infected with SARS-CoV-2 alpha variant

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