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AI algorithm accurately detects disease-causing variants in infants with rare diseases

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites.

15 Oct 2021

Mapping proteo-genomic connections between different human diseases

Hundreds of connections between different human diseases have been uncovered through their shared origin in our genome by an international research team led by scientists from the Medical Research Council Epidemiology Unit at the University of Cambridge, challenging the categorization of diseases by organ, symptoms, or clinical specialty.

15 Oct 2021

New atlas of small cell lung cancer reveals rare population of stem-like cells with metastatic properties

Imagine you're about to go on a cross-country trip, stopping at spots along the way to admire local attractions.

15 Oct 2021

Genes play a significant role in how the body responds to exercise, finds study

A new study has found that genes play a significant role in how our bodies respond to exercise and has identified a number of specific genes that influence the outcomes of different kinds of physical activity.

15 Oct 2021

Qatar genomics study reveals key historical and social insights into Arab populations

Researchers in Qatar have unveiled a high-resolution map of the genetic structure of Arab and Middle Eastern populations, providing new insights into human history in the region and ancestral patterns that may help to explain local human traits and disease risks.

15 Oct 2021

RUDN study reveals macrophage dynamics in the regenerating liver after resection

RUDN University discovered the features of liver macrophages activation during its regeneration. In future, it can be used to develop new treatment methods for liver cirrhosis. The results are published in the Biomedicine.

15 Oct 2021

New discovery suggests potential treatment target for osteoporosis and rheumatoid arthritis

A new discovery about osteoporosis suggests a potential treatment target for that brittle-bone disease and for bone loss from rheumatoid arthritis.

14 Oct 2021

Genome of obese Ossabaw pig could provide new insights into human obesity

Mapping of the complete genome of the obesity-prone Ossabaw pig gives new hope for further insights into human obesity and associated diseases.

14 Oct 2021

Mothers pass on the legacy of stress exposure to future generations

A mother's response to stress can even influence her grandchildren. Biologists at the University of Iowa found that roundworm mothers subjected to heat stress passed, under certain conditions and through modifications to their genes, the legacy of that stress exposure not only to their offspring but even to their offspring's children.

13 Oct 2021

Study reveals the zoonotic potential of the rat Sialodacryoadenitis virus

A new review aimed to describe the current state of knowledge on Sialodacryoadenitis virus, along with its characteristics and potential zoonotic threat.

13 Oct 2021

New study finds SARS-CoV-2 causes retinal infection

Can coronavirus disease 2019 (COVID-19) affect the eye? New research suggests the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can enter the eye and infect photoreceptor and retinal ganglion cells. In addition, SARS-CoV-2 infection increases the expression of several inflammatory genes, including the cytokine interleukin 33 (IL33), which is linked to COVID-19 disease and retinal degeneration.

13 Oct 2021

Role of CRISPR-Cas12a visual biosensor in detection of SARS-CoV-2

A new study aimed to develop a novel CRISPR-Cas12a powered visual biosensor for the detection of SARS-CoV-2.

13 Oct 2021

Study identifies DNA mutations linking liver disease with obesity and diabetes

For the first time, DNA mutations in liver cells have been identified that impact metabolism and insulin sensitivity in patients with liver disease.

13 Oct 2021

Genetic characteristics of possible new Alphacoronavirus species found in Bats

A recent study identifies a novel Alphacoronavirus isolated from bats, in Korea, in 2020.

13 Oct 2021

Researchers find how iron deficient plants protect themselves from damaging light

Researchers have identified how iron deficient plants protect themselves from damaging light, according to a Dartmouth study.

13 Oct 2021

Impact of BRCA1 mRNA expression on survival of patients breast and colorectal cancer

Oncotarget published "Opposing effects of BRCA1 mRNA expression on patient survival in breast and colorectal cancer and variations among African American, Asian, and younger patients" which reported that LMNB2 is a chromatin remodeling protein that also plays a role in eukaryotic cell proliferation by organizing the nuclear membrane during mitosis.

13 Oct 2021

Study identifies a new detrimental effect of genes that cause inherited diseases

Scientists have identified a new detrimental effect of genes that cause inherited diseases, publishing their results today in eLife.

12 Oct 2021

A new technique for long-term preservation of fruit fly populations

The fruit fly Drosophila melanogaster has long been an important experimental model for biological research. While you may be eager to rid your kitchen of this unwanted pest, researchers in Japan have developed a new technique to keep Drosophila in the laboratory even longer.

12 Oct 2021

Women who carry a mutation in PALB2 gene more likely to be diagnosed with breast cancer

Most of us have heard about the BRCA1 and BRCA2 genes. Men and women with a personal and/or family history of breast cancer have been offered testing for mutations in these two genes for a number of years to determine if they are at greater risk for breast and other cancers.

12 Oct 2021

Single-genome sequencing reveals malaria parasite genetics and evolution

Understanding how malaria parasites evolve after a human is bitten by an infected mosquito is very difficult. There can be billions of individual parasites in a patient's bloodstream and traditional genetic sequencing techniques can't identify the raw material for evolution: new mutations.

12 Oct 2021

Genes News and Research

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Mapping proteo-genomic connections between different human diseases

New atlas of small cell lung cancer reveals rare population of stem-like cells with metastatic properties

Genes play a significant role in how the body responds to exercise, finds study

Qatar genomics study reveals key historical and social insights into Arab populations

RUDN study reveals macrophage dynamics in the regenerating liver after resection

New discovery suggests potential treatment target for osteoporosis and rheumatoid arthritis

Genome of obese Ossabaw pig could provide new insights into human obesity

Mothers pass on the legacy of stress exposure to future generations

Study reveals the zoonotic potential of the rat Sialodacryoadenitis virus

New study finds SARS-CoV-2 causes retinal infection

Role of CRISPR-Cas12a visual biosensor in detection of SARS-CoV-2

Study identifies DNA mutations linking liver disease with obesity and diabetes

Genetic characteristics of possible new Alphacoronavirus species found in Bats

Researchers find how iron deficient plants protect themselves from damaging light

Impact of BRCA1 mRNA expression on survival of patients breast and colorectal cancer

Study identifies a new detrimental effect of genes that cause inherited diseases

A new technique for long-term preservation of fruit fly populations

Women who carry a mutation in PALB2 gene more likely to be diagnosed with breast cancer

Single-genome sequencing reveals malaria parasite genetics and evolution

eBook: Using iPSCs models for human disease research and drug discovery eBook

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Industry Focus eBook - Cell biology (5th edition)

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Evaluating new approaches for rare disease genomics

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