Genetics News and Research

Latest Genetics News and Research

Devastating genetic disease in children may be treatable in adulthood

A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new study from the Perelman School of Medicine at the University of Pennsylvania suggests.

15 Oct 2021

AI-based technology rapidly identifies genetic causes of rare disorders with high accuracy

An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Children's Hospital in San Diego.

15 Oct 2021

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

Salk researchers discover how the brain ignores distracting signals to coordinate movements

As you read this article, touch receptors in your skin are sensing your environment. Your clothes and jewelry, the chair you're sitting on, the computer keyboard or mobile device you're using, even your fingers as they brush one another unintentionally-;each touch activates collections of nerve cells.

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

UC San Diego researchers receive NIH award to expand the study of developing brains

The National Institutes of Health has awarded researchers at University of California San Diego approximately $30 million over five years to expand and deepen longitudinal studies of the developing brain in children.

14 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

Researchers uncover how cancer cells use sugar residue to evade the immune system

A team of South Dakota State University chemistry researchers uncovered how cancer cells utilize a simple sugar residue to disguise themselves from the immune system. What they learned will help scientists develop more effective cancer therapeutics.

12 Oct 2021

New source of stem cells could help treat people with Alagille syndrome

Researchers from Sanford Burnham Prebys have discovered a new source of stem cells just outside the liver that could help treat people living with Alagille syndrome, a rare, incurable genetic disorder in which the bile ducts of the liver are absent, leading to severe liver damage and death.

12 Oct 2021

CAST brings advancements in genomic medicine to admixed individuals

One way to make health care more personalized is to use a person's DNA sequence — or genome — to predict their risk of disease. But as the field of precision medicine grows, so have concerns that we may be leaving a large fraction of Americans out.

12 Oct 2021

New federated analytics system can act as a game-changer towards personalized medicine

Predictive, preventive, personalized and participatory medicine, known as P4, is the healthcare of the future. To both accelerate its adoption and maximize its potential, clinical data on large numbers of individuals must be efficiently shared between all stakeholders.

11 Oct 2021

NYU Langone launches new center to advance scientific discovery and treatment of neurodegenerative diseases

NYU Langone Health announced today the launch of the Parekh Center for Interdisciplinary Neurology, made possible by a gift provided by Deven and Monika Parekh through the Psquared Charitable Foundation.

11 Oct 2021

CDC and ClinGen partner to develop expert curated variant list for the genomic community

The Centers for Disease Control and Prevention's Genetic Testing Reference Material Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 expert curated pathogenic variants in 84 genes for use in next-generation sequencing (NGS) genetic testing.

11 Oct 2021

Role of S-acylation in SARS-CoV-2 infectivity

A new study published in Developmental Cell investigates S-acylation of the SARS-CoV-2 S protein.

10 Oct 2021

Study uncovers toxic air pollutant mixtures linked to poor childhood asthma outcomes

Researchers at the Icahn School of Medicine at Mount Sinai have developed a novel machine learning algorithm and used it to identify previously unknown mixtures of toxic air pollutants that appear to be linked to poor asthma outcomes later in a child's life.

8 Oct 2021

NIH awards more than $8 million to support seven high-risk, high-reward projects at Penn Medicine

The National Institutes of Health has awarded grants to researchers in the Perelman School of Medicine at the University of Pennsylvania to support "highly innovative and broadly impactful" biomedical science through the NIH Common Fund's High-Risk, High-Reward Research program. The seven awards total approximately $8.2 million over five years,

8 Oct 2021

More severe SARS-CoV-2 infection associated with greater risk of preterm birth

Researchers at the Wayne State University School of Medicine and the National Institutes of Health's Perinatology Research Branch in Detroit have discovered that the more severely infected with COVID-19 a mother is, the more likely she is to experience preterm birth.

8 Oct 2021

Genetics can influence a person's response to Alzheimer's disease pathology, research suggests

A recently released paper from the Department of Physiology and Sanders-Brown Center on Aging (SBCoA) at the University of Kentucky College of Medicine suggests that your genetics can influence your response to Alzheimer's disease pathology.

8 Oct 2021

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years.

8 Oct 2021

Genetics News and Research

Latest Genetics News and Research

Devastating genetic disease in children may be treatable in adulthood

AI-based technology rapidly identifies genetic causes of rare disorders with high accuracy

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

Salk researchers discover how the brain ignores distracting signals to coordinate movements

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

UC San Diego researchers receive NIH award to expand the study of developing brains

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

Researchers uncover how cancer cells use sugar residue to evade the immune system

New source of stem cells could help treat people with Alagille syndrome

CAST brings advancements in genomic medicine to admixed individuals

New federated analytics system can act as a game-changer towards personalized medicine

NYU Langone launches new center to advance scientific discovery and treatment of neurodegenerative diseases

CDC and ClinGen partner to develop expert curated variant list for the genomic community

Role of S-acylation in SARS-CoV-2 infectivity

Study uncovers toxic air pollutant mixtures linked to poor childhood asthma outcomes

NIH awards more than $8 million to support seven high-risk, high-reward projects at Penn Medicine

More severe SARS-CoV-2 infection associated with greater risk of preterm birth

Genetics can influence a person's response to Alzheimer's disease pathology, research suggests

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Sequencing & Genomics: Elevating Science and Healthcare eBook

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production