Lifeboat Foundation

Over the recent decades, comprehensive genome-wide association studies (GWAS) have indicated the potential influence of genetic factors on one’s alcohol consumption volume and identified over 100 related variants^6,7. However, a predominant proportion of the identified variants are localized within noncoding regions, and their effect sizes tend to be small, making interpretation and identification of the causal gene challenging⁸. In addition, previous GWAS mainly utilized imputed genotype data, which only cover limited regions of the genome, and thus may have missed many potential genes. Furthermore, GWAS studies focused mainly on common variants, and few studies have investigated rare variants associated with alcohol consumption, which yield greater potential to interpret biological function and elucidate mechanisms⁹. Although there are studies that have attempted to leverage exome chip data to identify rare variants contributing to alcohol consumption, the sample size was small and limited regions of the whole exome were examined¹⁰.

The introduction of whole exome sequencing (WES) provides a great chance to overcome the limitations of previous genetic studies on alcohol consumption with a substantially larger amount of rare and ultra-rare protein-coding variants^11,12,13. Collapsing of loss-of-function (LOF) variants helps estimate the effect direction of associated genes^13,14. When combined with large-scale population cohorts with multi-modal phenotypic data, WES would greatly facilitate our understanding of the genetic underpinnings of alcohol consumption as well as its implication on physical and mental health⁶. However, to our knowledge, there have been few large-scale WES studies on alcohol consumption, let alone elucidating the potential implications of the identified genes^10,15. Meanwhile, as indicated by a previous genome-wide association study, significant genetic associations existed between alcohol consumption and several body health phenotypes⁷. The application of phenome-wide analysis for alcohol-related genes can help extend and deepen our current comprehension of the association between alcohol consumption and human health.

Hence, aiming to refine the genetic architecture of alcohol consumption, we conduct an exome-wide association study (ExWAS) for alcohol consumption among 304,119 individuals from the UK Biobank (UKB). We also examine the rare-variant associations with genes reported by previous GWAS^6,7,16,17. Finally, we provide biological insights into the identified genes via bioinformatics analyses and phenome-wide association analysis (PheWAS).

Scientists at Weill Cornell Medicine discovered a previously unknown link between two key pathways that regulate the immune system in mammals — a finding that impacts our understanding of chronic inflammatory bowel diseases (IBD). This family of disorders severely impacts the health and quality of life of more than 2 million people in the United States.

The immune system has many pathways to protect the body from infection, but sometimes an overactive immune response results in autoimmune diseases including IBD, psoriasis, rheumatoid arthritis and multiple sclerosis. Interleukin-23 (IL-23) is one such immune factor that fights infections but is also implicated in many of these inflammatory diseases. However, it was unknown why IL-23 is sometimes beneficial, and other times becomes a driver of chronic disease.

In the study, published June 12 in Nature, the team found that IL-23 acts on group 3 innate lymphoid cells (ILC3s), a family of immune cells that are a first line of defense in mucosal tissues such as the intestines and lungs. In response, ILC3s increase activity of CTLA-4, a key regulatory factor that prevents the immune system from attacking the body and beneficial gut microbiota. This interaction critically balances the pro-inflammatory effects IL-23 to maintain gut health, but is impaired in IBD.

Is Medical Director of the Adult Extracorporeal Membrane Oxygenation (ECMO) Program at Methodist Hospital, San Antonio, Texas. He is also the Medical Director of the Cardiovascular Intensive Care Unit at Methodist Healthcare System and the Texas IPS Critical Care Service Line (https://texasips.com/jeffrey-dellavol…). He also serves as chair of the Joint Society of Critical Care Medicine/Extracorporeal Life Support Organization Task Force and has created a platform for ECMO training and ECMO transport (https://ecmotransports.com/about/).

ECMO is a form of extracorporeal life support, providing prolonged cardiac and respiratory support to persons whose heart and lungs are unable to provide an adequate amount of oxygen, gas exchange or blood supply (perfusion) to sustain life.

Continue reading “Dr. Jeffrey DellaVolpe, MD — Saving Lives With Extracorporeal Membrane Oxygenation (ECMO) Technology” »

Eexxeccellent.

Human brains outperform computers in many forms of processing and are far more energy efficient. What if we could harness their power in a new form of biological computing?

Continue reading “Thomas Hartung and colleagues | The future of organoid intelligence | Frontiers Forum Deep Dive 2023” »

Microbes that are used for health, agricultural, or other applications need to be able to withstand extreme conditions, and ideally the manufacturing processes used to make tablets for long-term storage. MIT researchers have now developed a new way to make microbes hardy enough to withstand these extreme conditions.

Their method involves mixing bacteria with food and drug additives from a list of compounds that the FDA classifies as “generally regarded as safe.” The researchers identified formulations that help to stabilize several different types of microbes, including yeast and bacteria, and they showed that these formulations could withstand high temperatures, radiation, and industrial processing that can damage unprotected microbes.

The structure and function of the kidneys is altered by space flight, with galactic radiation causing permanent damage that would jeopardise any mission to Mars, according to a new study led by researchers from UCL.

The study, published in Nature Communications, is the largest analysis of kidney health in space flight to date and includes the first health dataset for commercial astronauts. It is published as part of a Nature special collection of papers on space and health.

Researchers have known that space flight causes certain health issues since the 1970s, in the years after humans first travelled beyond Earth’s magnetic field, most famously during the first moon landing in 1969. These issues include loss of bone mass, weakening of the heart and eyesight, and development of kidney stones.

Editor’s note: Video above is about a NASA astronaut discussing an extended stay in space.

(THE CONVERSATION) – Only about 600 people have ever traveled to space. The vast majority of astronauts over the past six decades have been middle-aged men on short-duration missions of fewer than 20 days.

Today, with private, commercial and multinational spaceflight providers and flyers entering the market, we are witnessing a new era of human spaceflight. Missions have ranged from minutes, hours and days to months.

As part of the 2024 Prostate Cancer Patient Conference, Dr. Eric Small discusses systemic therapy treatment in advanced prostate cancer, including AR-targeted therapy. The presentation includes definitions of disease states, categories of treatment types, and standards in treatment selection.
Recorded on 03/09/2024. [Show ID: 39768]

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Continue reading “Systemic Therapy Approaches for Advanced Prostate Cancer” »

Microbes that are used for health, agricultural, or other applications need to be able to withstand extreme conditions, and ideally the manufacturing processes used to make tablets for long-term storage. MIT researchers have now developed a new way to make microbes hardy enough to withstand these extreme conditions.

Their method involves mixing bacteria with food and drug additives from a list of compounds that the FDA classifies as “generally regarded as safe.” The researchers identified formulations that help to stabilize several different types of microbes, including yeast and bacteria, and they showed that these formulations could withstand high temperatures, radiation, and industrial processing that can damage unprotected microbes.

In an even more extreme test, some of the microbes recently returned from a trip to the International Space Station, coordinated by Space Center Houston Manager of Science and Research Phyllis Friello, and the researchers are now analyzing how well the microbes were able to withstand those conditions.