Feature Channels: Genetics

• share
• favorite_border

The availability, speed and effectiveness of genomic sequencing increased dramatically during the pandemic, as scientists worldwide rushed to find ways to track and predict the virus’s movement and evolution. It also was critical in the development of effective vaccines. In an essay published today, two NAU biologists argue that building on this momentum is critical in society’s response to future pandemics, but it requires significant collaboration and investment now, before the next pathogen is threatening society.

• share
• favorite_border

Researchers have discovered a new way to attack fungal infections. The key is to block fungi from being able to make fatty acids, the major component of fats.

• share
• favorite_border

A Penn Medicine and Children’s Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

• share
• favorite_border

On World Lung Cancer Day, Aug. 1, the Forum of International Respiratory Societies (FIRS) and its founding member, the American Thoracic Society, stress the importance of understanding lung cancer risk factors, as well as the importance of early detection through screening, and treatment.

• share
• favorite_border

Human papillomavirus (HPV) has been linked to a significant increase in cancers of the throat and tonsils over the past few decades; this is projected to become the most common form of head and neck cancer by 2030. But a major limitation to reducing treatment intensity is the inability to correctly identify the patients whose HPV-related cancers will be the most responsive to treatment.

• share
• favorite_border

Newborn screening for cystic fibrosis (CF) was fully implemented in all 50 states in the U.S. by 2010, but delays in timeliness of evaluation for infants with positive newborn screen tests persist. Through evaluation of national patient registry data, Dr. Martiniano and her team determined that later initiation of CF care is associated with poorer long-term nutritional outcomes.

• share
• favorite_border

A mammalian protein previously shown by UT Southwestern microbiologists to inhibit the virus that causes COVID-19 in cell culture also protected live mouse models, significantly limiting infection in the lung cells and diminishing the symptoms. The findings, published in Nature Microbiology, could lead to new strategies to treat COVID-19, which still infects thousands and kills hundreds in the U.S. every week.

• share
• favorite_border

Las anomalías cromosómicas son un rasgo característico de las células cancerosas. Los defectos en el genoma derivados de la separación incorrecta de cromosomas (y el ADN que contienen) en cada división celular conllevan crecimiento tumoral y resistencia al tratamiento.

• share
• favorite_border

Erros cromossômicos são uma marca registrada das células cancerígenas. Defeitos no genoma decorrentes da separação incorreta dos cromossomos (e do DNA contido neles) em cada divisão celular promovem crescimento do tumor e resistência a terapias.

• share
• favorite_border

UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism spectrum disorder.

• share
• favorite_border

The American Neuromuscular Foundation, is excited to announce Jerry R. Mendell, MD, as the recipient of the 2023 Best Abstract Award, for his abstract titled, “Long-Term Safety and Efficacy in Patients With Duchenne Muscular Dystrophy 4 Years Post-Treatment With Delandistrogene Moxeparvovec in a Phase 1/2a Study.”

• share
• favorite_border

A roundup of the latest medical discoveries and faculty news at Cedars-Sinai.

• share
• favorite_border

An international research study led by the University of Vienna (Austria) and the Institute of Evolutionary Biology (IBE) in Barcelona (Spain), recently published in the journal Nature Ecology and Evolution, provides a better insight into the evolutionary history of gorillas.

• share
• favorite_border

In a step forward in the development of genetic medicines, researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders, allowing for the modification of diseased blood cells directly within the body. If translated into the clinic, this approach could expand access and reduce the cost of gene therapies for blood disorders, many of which currently require patients receive chemotherapy and a stem cell transplant. The findings were published today in the journal Science.

• share
• favorite_border

A soil nematode reanimated from Siberian permafrost had laid dormant for approximately 46,000 years, according to a study.

• share
• favorite_border

New research in colorectal cancers directed by investigators at the Johns Hopkins Kimmel Cancer Center suggests that expression of transcription factors — proteins that help turn specific genes on or off by binding to nearby DNA — may play a central role in the degree of DNA methylation across the genome, contributing to the development of different subtypes of these cancers. Methylation is a process in which certain chemical groups attach to areas of DNA that guide genes’ on/off switches.

• share
• favorite_border

Investigators at the Icahn School of Medicine at Mount Sinai have designed an innovative RNA-based strategy to activate dendritic cells—which play a key role in immune response—that eradicated tumors and prevented their recurrence in mouse models of melanoma.

• share
• favorite_border

Conventional wisdom holds that storing fat around your belly puts you at increased risk for type 2 diabetes. But surprising new findings from the University of Virginia School of Medicine suggest that naturally occurring variations in our genes can lead some people to store fat at the waist but also protect them from diabetes.

• share
• favorite_border

Researchers have developed methods to study and manipulate areas of the brain, though many of those methods are restricted by the limited depth that light can reach within the brain. A multidisciplinary team at Washington University in St. Louis plans to overcome that limitation by integrating ultrasound with genetics to precisely modify neurons in the brain.

• share
• favorite_border

People who carry the gene variant associated with the strongest risk for Alzheimer’s disease may lose their ability to detect odors earlier than people who do not carry the gene variant, which may be an early sign of future memory and thinking problems, according to a study published in the July 26, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology. The gene variant associated with this increased risk of Alzheimer’s is called APOE e4.

• share
• favorite_border

Hidradenitis suppurativa (HS) is a chronic inflammatory follicular disease which causes painful lumps to form under the skin. The lumps typically form in areas where skin rubs together – such as the armpits, groin, and under the breasts. HS can range in severity from occasional fluid-filled abscesses to widespread rope-like scarring, chronic pain, and increase of infection.

• share
• favorite_border

Scientists have unraveled the step-by-step activation process of a protein with a deep evolutionary history in all domains of life, opening the door to harnessing its functions for use as a biotechnology tool.

• share
• favorite_border

• share
• favorite_border

• share
• favorite_border

Ann & Robert H. Lurie Children’s Hospital of Chicago is leading an awareness campaign that aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening, especially in non-White infants. In its first phase, the campaign targets primary care providers and public health officials, so that treatment can start earlier, which is linked to better outcomes for people with cystic fibrosis. The general public phase is expected to follow within the year.

• share
• favorite_border

Base editing technology invented at Rutgers, The State University of New Jersey, and exclusively licensed to Revvity, Inc. subsidiary Horizon Discovery, has been sub-licensed to biopharmaceutical company AstraZeneca to support its creation of cell therapies for the treatment of cancer and immune-mediated diseases.

• share
• favorite_border

Researchers at the George Washington University, in collaboration with colleagues in France and Germany, have developed a model organism to study neglected tropical diseases from a genetically modified parasitic worm.

• share
• favorite_border

In a new study, University of Utah Health researchers have shown that a particular version of a gene may contribute to the higher severity of stroke seen among Black Americans. The findings could help scientists develop more effective stroke medications for people who carry the gene.

• share
• favorite_border

In one of the first large-scale studies of genes related to diet, researchers have uncovered almost 500 genes that appear to directly influence the foods we eat. The findings represent an important step toward using a person’s genetics to develop precision nutrition strategies that help improve health or prevent disease.

• share
• favorite_border

Scientists from The Federal Research Centre “Fundamentals of Biotechnology” of the Russian Academy of Sciences (Research Center of Biotechnology RAS) elaborated mathematical algorithm that enabled to find dispersed repeated elements in genome with great accuracy.

• share
• favorite_border

Drawing inspiration from natural sensory systems, an MIT-led team has designed a novel sensor that could detect the same molecules that naturally occurring cell receptors can identify.

• share
• favorite_border

An interdisciplinary research team from Bochum, Duisburg and Zurich has developed a new approach to construct modular optical sensors which are capable of detecting viruses and bacteria.

• share
• favorite_border

Using artificial intelligence to analyze tens of thousands of X-ray images and genetic sequences, researchers from The University of Texas at Austin and New York Genome Center have been able to pinpoint the genes that shape our skeletons, from the width of our shoulders to the length of our legs.

• share
• favorite_border

Plant geneticists have identified a mutation in a gene that causes the “weeping” architecture – branches growing downwards – in apple trees, a finding that could improve orchard fruit production.

• share
• favorite_border

Using data from diverse populations around the world, researchers have developed an algorithm to help predict the risk of developing Alzheimer’s disease based on genetic information in patients with a wide variety of ethnic backgrounds. While additional ethnicities should be included in future studies, this work aims to eliminate disparities in diagnosis of the disease.

• share
• favorite_border

As molecular biologists at Boston University and as husband and wife, Ruslan Afasizhev and Inna Afasizheva, have worked together for decades.

• share
• favorite_border

Scientists from Research Center of Biotechnology RAS with colleagues developed a set of plasmids that deliver CRISPR-Cas9 component genes into cells in the form of individual DNA molecules that are combined into a single genetic construct directly in yeast.

• share
• favorite_border

People who contract COVID-19 but never develop symptoms – the so-called super dodgers – may have a genetic ace up their sleeve. They’re more than twice as likely as those who become symptomatic to carry a specific gene variation that helps them obliterate the virus, according to a new study led by UC San Francisco researchers. 

• share
• favorite_border

Led by Dr. Jordi Casanova and Dr. Panagiotis Giannios, a team of researchers at IRB Barcelona and IBMB(CSIC) has revealed the relationship between autophagy and polyploidy, the latter a phenomenon in which cells contain multiple copies of genetic material. In this regard, they have discovered a scenario where the level of autophagy is much higher in cells with several copies of DNA and that it can even trigger this programmed cell death.

• share
• favorite_border

The research underscores the limitations of the health care system’s frequent reliance on broad self-reported race and ethnicity data to assess patients’ risk of developing disease, and the findings also support expanding genetic screening to more groups.