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.

"Founder events" that reduced genetic diversity found to be common throughout human history

Human populations have waxed and waned over the millennia, with some cultures exploding and migrating to new areas or new continents, others dropping to such low numbers that their genetic diversity plummeted.

23 Jun 2022

New method helps unravel three-dimensional structure of the human genome

Weill Cornell Medicine and New York Genome Center researchers, in collaboration with Oxford Nanopore Technologies, have developed a new method to assess on a large scale the three-dimensional structure of the human genome, or how the genome folds.

23 Jun 2022

Inherited mutations in the MINAR2 gene lead to sensorineural deafness

Researchers at the John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine have found that inherited mutations in the MINAR2 gene caused deafness in four families.

23 Jun 2022

Molecular tumor profiling in pediatric cancer patients significantly impacts clinical care

Results of a study of molecular tumor profiling in young patients revealed a high rate of genetic alterations with potential for impacting clinical care, including clarifying diagnoses and treatment with matched, precision cancer drugs.

23 Jun 2022

Researchers discover two important novel aspects of APOE4 gene in Alzheimer's patients

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia, affecting more than 5.8 million individuals in the U.S.

23 Jun 2022

Using omics technology to characterize and quantify biomolecules for better nutrition

Maya Rajasekharan, Senior Advisor, Strategic Program Development at the Alliance of Bioversity International and the International Center for Tropical Agriculture (CIAT), says that food is the single greatest determinant of human health and disease over the course of one's life, and yet a comprehensive understanding of the composition of what we eat remains unknown.

22 Jun 2022

Scientists discover 15 additional genetic mutations linked to KCNK9 imprinting syndrome

A collaborative team of scientists led by Mayo Clinic's Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome.

21 Jun 2022

TB-causing bacteria can evolve rapidly in response to new environments, study says

Researchers have identified how the bacterium that causes tuberculosis (TB) can evolve rapidly in response to new environments, says a study published today in eLife.

21 Jun 2022

Disease ecologist receives $3.5 million to take modeling to the next level with EpiMoRPH

Mathematical modeling - which combines math, statistics, computing and data - is a critical tool for public health professionals, who use it to study how diseases spread, predict the future course of outbreaks and evaluate strategies for controlling epidemics.

18 Jun 2022

INTEGRA solutions helping to support a new generation of RNA sequencing

INTEGRA Biosciences’ electronic handheld pipetting solutions are helping to improve the throughput capacity of bulk RNA barcoding and sequencing (BRB-seq) at Alithea Genomics in Switzerland.

From INTEGRA Biosciences 17 Jun 2022

Anorexia patients show notable reductions in three critical measures of the brain, study reveals

Eating disorders are often misunderstood as lifestyle choices gone awry or oversimplified as the unfortunate result of societal pressures. These misconceptions obscure the fact that eating disorders are serious and potentially fatal mental illnesses that can be treated effectively with early intervention.

15 Jun 2022

seqWell appoints Dr Amy Liao to Board of Directors

seqWell, a global provider of genomic library workflow solutions including the plexWell™ next-generation sequencing (NGS) multiplexing technology, today announced the appointment of Dr Amy Liao to its Board.

From seqWell 14 Jun 2022

New study provides 'big picture' of the genetic landscape of Europe

A new study by RCSI University of Medicine and Health Sciences examining population genetics across Europe has analyzed the diverse ancestries of people living in the UK. This knowledge has the potential to inform future health research on genetic factors leading to disease.

13 Jun 2022

Social stress factors have a direct impact on cellular mechanisms that drive deadly breast cancer

Chronically stressful conditions of daily life such as racism, pollution and poverty have a direct impact on the cellular mechanisms that drive lethal, invasive forms of breast cancer, according to a study led by Duke Cancer Institute researchers.

13 Jun 2022

Whole-genome sequencing can help provide an accurate diagnosis of severely ill infants

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care.

13 Jun 2022

Proteomic analysis of 2002 tumors reveals 11 distinct pan-cancer molecular subtypes

A new study that analyzed protein levels in 2,002 primary tumors from 14 tissue-based cancer types identified 11 distinct molecular subtypes, providing systematic knowledge that greatly expands a searchable online database that has become a go-to platform for cancer data analysis by users worldwide.

10 Jun 2022

Researchers create first comprehensive functional map of genes expressed in human cells

The Human Genome Project was an ambitious initiative to sequence every piece of human DNA. The project drew together collaborators from research institutions around the world, including Whitehead Institute, and was finally completed in 2003.

9 Jun 2022

New disease that affects the macula discovered

Researchers from the National Eye Institute have identified a new disease that affects the macula, a small part of the light-sensing retina needed for sharp, central vision.

9 Jun 2022

Curia and Replicate Bioscience Enter Strategic Collaboration to Create Groundbreaking Development Platform for Self-Replicating RNA (srRNA)

From Curia 9 Jun 2022

Insilico Medicine plans to launch a fully automated AI-driven robotics lab for drug discovery

Insilico Medicine's end-to-end AI-driven drug discovery platform, Pharma.AI, draws its strength from the quality and quantity of its data. As Insilico scientific advisory board member and Nobel Prize laureate in chemistry Dr. Michael Levitt has said, Insilico's platform capitalizes on the ability of artificial intelligence to take vast amounts of data from many different components and find patterns and make predictions that can point the way to new life-saving medications.

9 Jun 2022

Genomics News and Research

Further Reading

"Founder events" that reduced genetic diversity found to be common throughout human history

New method helps unravel three-dimensional structure of the human genome

Inherited mutations in the MINAR2 gene lead to sensorineural deafness

Molecular tumor profiling in pediatric cancer patients significantly impacts clinical care

Researchers discover two important novel aspects of APOE4 gene in Alzheimer's patients

Using omics technology to characterize and quantify biomolecules for better nutrition

Scientists discover 15 additional genetic mutations linked to KCNK9 imprinting syndrome

TB-causing bacteria can evolve rapidly in response to new environments, study says

Disease ecologist receives $3.5 million to take modeling to the next level with EpiMoRPH

INTEGRA solutions helping to support a new generation of RNA sequencing

Anorexia patients show notable reductions in three critical measures of the brain, study reveals

seqWell appoints Dr Amy Liao to Board of Directors

New study provides 'big picture' of the genetic landscape of Europe

Social stress factors have a direct impact on cellular mechanisms that drive deadly breast cancer

Whole-genome sequencing can help provide an accurate diagnosis of severely ill infants

Proteomic analysis of 2002 tumors reveals 11 distinct pan-cancer molecular subtypes

Researchers create first comprehensive functional map of genes expressed in human cells

New disease that affects the macula discovered

Curia and Replicate Bioscience Enter Strategic Collaboration to Create Groundbreaking Development Platform for Self-Replicating RNA (srRNA)

Insilico Medicine plans to launch a fully automated AI-driven robotics lab for drug discovery

NGS for Infectious Disease Surveillance eBook

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