Each year, the ACMG Foundation for Genetic and Genomic Medicine grants its Next Generation fellowship awards to promising early career professionals in a range of medical genetics and genomics specialties including Clinical Biochemical Genetics Laboratory, Laboratory Genetics and Genomics, Medical Biochemical and Ophthalmic Genetics. Support for this year’s class of Fellows was generously provided by Pfizer, Sanofi, Spark Therapeutics, Bionano and Horizon Therapeutics. The ACMG Foundation depends on corporate ...

Solar-induced chlorophyll fluorescence (SIF) and the photochemical reflectance index (PRI) have emerged as significant tools in assessing the photosynthetic and carbon sequestration capacities of terrestrial vegetation, particularly for estimating gross primary productivity (GPP). However, the relationship between SIF, PRI, and GPP encounters challenges due to large temporal and spatial variabilities as well as the influence of various observational factors such as canopy structure and physiological state. Despite the potential of multi-angle observations and the Bidirectional Reflectance Distribution Function (BRDF) model to mitigate these ...

Corvallis, OR — The Alliance of World Scientists (AWS) is pleased to announce the six recipients of the 2024 Planet Earth Award: Dr. S Faizi, Dr. James Hansen, Dr. Denise Margaret S. Matias, Dr. Kimberly Nicholas, Dr. Jamie Pittock, and Dr. Fernando Valladares. Planet Earth Award The AWS Planet Earth Award acknowledges individuals who champion life on Earth. These individuals demonstrate exceptional creativity or contributions in their work in science-based advocacy with the public, ...

Computers work in digits — 0s and 1s to be exact. Their calculations are digital; their processes are digital; even their memories are digital. All of which requires extraordinary power resources. As we look to the next evolution of computing and developing neuromorphic or “brain like” computing, those power requirements are unfeasible. To advance neuromorphic computing, some researchers are looking at analog improvements. In other words, not just advancing software, but advancing hardware too. Research from the University of California San Diego and UC Riverside shows a promising new way to store and transmit information ...

DALLAS (SMU) – What exactly happens at the tiny scale at which individual atoms exist and interact? SMU chemist Elfi Kraka and her colleagues have been working on developing a computational tool aimed at providing answers to that mystery. Mathematical functions used to calculate the potential energy of a system of atoms are called interatomic potentials. Machine learning interatomic potentials (MLIP)s have become an efficient and less expensive alternative to traditional quantum chemical simulations, which even on today’s high-performance computing often become out of reach for larger ...

Although women have breastfed since the beginning of time, there is very little scientific research on how exercise affects breast milk. Online forums for pregnant women and new mothers are full of questions about this exact issue: Can exercise cause breast milk to go sour? What happens to breast milk if you do high-intensity interval training? Will strenuous exercise affect your milk supply? “There are so many myths about exercise and breast milk. We simply need more knowledge,” says researcher Trine Moholdt at the Norwegian University of Science and Technology (NTNU). She heads several international research projects ...

The ACMG Foundation for Genetic and Genomic Medicine is proud to present the ACMG Foundation/David L. Rimoin Inspiring Excellence Award to Christiana Wang, BS for her featured platform presentation at the 2024 ACMG Annual Clinical Genetics Meeting, “Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant.” Christiana Wang, BS, is a second-year PhD candidate in the Department of Molecular ...

ATLANTA – New data provided by studying the beluga whales at Georgia Aquarium helps close a key information gap about how much food these whales need to thrive. The information will inform important management decisions for their counterparts in Alaska’s Cook Inlet, which are protected under the U.S. Endangered Species Act (ESA). A new study released in the Journal of Experimental Biology, led by Terrie M. Williams, Director of the Integrative Carnivore EcoPhysiology Lab, with her graduate student Jason John at the University of California-Santa Cruz in partnership ...

Americans already living in housing supported by federal housing assistance programs have significantly lower blood lead levels than counterparts who would later join these programs, according to new research led by environmental health scientists at Columbia University Mailman School of Public Health and Tufts Medical Center. The findings appear in the peer-reviewed journal Environmental Health Perspectives. “Living in federally-supported housing—especially public housing—limited opportunities for residents’ exposure to lead,” says first author MyDzung Chu, Ph.D., assistant professor in the Institute for ...

Residential heating by coal has for decades been the major contributor to the high levels of air pollution in Krakow, Poland. New research finds a nearly 40 percent decline in the annual average concentration of respirable particulate matter (PM2.5) in Kraków, Poland, between 2010 and 2019 following the implementation of policies targeting emissions from the burning of coal and other solid fuels. Researchers show the improvement in air quality translated to substantial benefits for children’s outcomes, including fewer cases of asthma and better birth outcomes. The ...

Nagoya University researchers and their colleagues in Japan have found that middle-age obesity is caused by age-related changes in the shape of neurons in the hypothalamus, a region of the brain that controls metabolism and appetite. A protein called melanocortin-4 receptor (MC4R) detects overnutrition and regulates metabolism and appetite to prevent obesity. According to their study in rats, MC4Rs were concentrated in primary cilia (antenna-like structures) that extend from a couple of groups of hypothalamic neurons. The study also showed that the primary cilia became shorter with age, which decreased MC4Rs accordingly, ...

Recently, Nano Research announced awardees of the 2023 Nano Research Young Innovators (NR45) Awards in Bio-inspired Nanomaterials. Thirty-three outstanding young investigators under the age of 45 were selected for their extraordinary contributions in developing bio-inspired nanomaterials with applications spanning clean energy, human healthcare, monitoring, and disease treatments. They were selected through a competitive process by an award committee from Nano Research’s editorial board. Congratulations to all the 33 awardees in 2023!   The NR45 Awards ...

A medical waste treatment system, which is capable of 99.9999 percent sterilization by using high-temperature and high-pressure steam, has been developed for the first time in the country. The Korea Institute of Machinery and Materials (President Seog-Hyeon Ryu, hereinafter referred to as KIMM), an institute under the jurisdiction of the Ministry of Science and ICT, has succeeded in developing an on-site-disposal type medical waste sterilization system that can help to resolve the problem caused by medical waste, which has become a national and social issue as the volume of medical waste continues ...

A research team, affiliated with UNIST, has unveiled for the first time a new principle of motion in the microworld, where objects can move in a directed manner simply by changing their sizes periodically within a substance known as liquid crystal. Led by Professor Jonwoo Jeong and his research team in the Department of Physics at UNIST, this discovery is poised to have far-reaching implications across various research fields, including the potential development of miniature robots in the future. In their research, the team observed that air bubbles within ...

A four-year study by Dartmouth researchers captures the most in-depth data yet on how college students' self-esteem and mental health fluctuates during their four years in academia, identifying key populations and stressors that the researchers say administrators could target to improve student well-being. The study also provides among the first real-time accounts of how the coronavirus pandemic affected students' behavior and mental health. The stress and uncertainty of COVID-19 resulted in long-lasting behavioral changes that persisted as a "new normal" even as the pandemic diminished, including feeling more stressed, less socially engaged, and sleeping more. The ...

Participation in recreational activities — including golfing, gardening or yard work, woodworking and hunting — may be associated with an increase in a person’s risk for developing amyotrophic lateral sclerosis, or ALS, a Michigan Medicine study finds.  While many activities were associated with increased ALS risk, several were sex specific. The results are published in the Journal of the Neurological Sciences.  “We know that occupational risk factors, like working in manufacturing and trade industries, are linked to an increased risk for ALS, and this adds to a growing literature that recreational activities may also represent ...

Is there a way to stick hard and soft materials together without any tape, glue or epoxy? A new study published in ACS Central Science shows that applying a small voltage to certain objects forms chemical bonds that securely link the objects together. Reversing the direction of electron flow easily separates the two materials. This electroadhesion effect could help create biohybrid robots, improve biomedical implants and enable new battery technologies. When an adhesive is used to attach two things, it binds the surfaces either through mechanical or electrostatic forces. But sometimes those attractions or bonds are difficult, if not ...

A new study reveals that many people living in extreme poverty in low- and middle-income countries (LMICs) have conditions that lead to heart disease, the world’s #1 cause of death — overturning ‘conventional wisdom’. In the largest analysis of its kind exploring the relationship between poverty and cardiovascular disease (CVD) risk factors, experts discovered a high prevalence of hypertension, diabetes, smoking, obesity, and dyslipidemia in LMICs regardless of income —yet most adults living in extreme poverty were not treated for these CVD-related conditions.   An international group of researchers note that their findings, ...

A study led by the Barcelona Institute for Global Health (ISGlobal), a centre supported by the "la Caixa" Foundation, and the Barcelona Supercomputing Center - Centro Nacional de Supercomputación (BSC-CNS), has consistently estimated daily ambient concentrations of PM2.5, PM10, NO2 and O3 across a large ensemble of European regions between 2003 and 2019 based on machine learning techniques. The aim was to assess the occurrence of days exceeding the 2021 guidelines of the World Health Organization (WHO) for one or multiple pollutants, referred to as “unclean air days”. The ...

SPOKANE, Wash. – Exposure to several combinations of toxic atmospheric pollutants may be triggering asthma symptoms among children, a recent analysis suggests. The study, published in the journal Science of the Total Environment, showed that 25 different combinations of air pollutants were associated with asthma symptoms among 269 elementary school children diagnosed with asthma in Spokane, Washington. In line with previous research, the Washington State University-led study revealed a socioeconomic disparity—with one group of children from a lower-income neighborhood exposed to more toxic combinations, a total of 13 of the 25 ...

LA JOLLA, CA—Hitting targets embedded within the cell membrane has long been difficult for drug developers due to the membrane’s challenging biochemical properties. Now, Scripps Research chemists have demonstrated new custom-designed proteins that can efficiently reach these “intramembrane” targets. In their study, published March 13, 2024, in Nature Chemical Biology, the researchers used a unique computer-based approach to design novel proteins targeting the membrane-spanning region of the erythropoietin (EPO) receptor, which controls red blood cell production and can go awry in cancers. In addition ...

A largescale new study has found that some people whose genetics are linked to the common iron overload condition haemochromatosis have substantially greater levels of liver, musculoskeletal and brain disease than previously reported, especially at older ages. Haemochromatosis causes a build-up of iron in the body which can cause harm to joints and organs – although the extent of this harm is unclear, especially in older ages. The new research, led by a team at the University of Exeter and supported by the National Institute for Health and Care ...

One of the primary goals in the field of tissue engineering and regenerative medicine is the development of artificial scaffolds that can serve as substitutes for damaged tissue. These materials must ideally resemble natural tissue and must have the ability to support cell adhesion, proliferation, and differentiation. When considering scaffold materials, researchers account for the scaffold’s properties, such as its surface roughness, its water content (hydration state), and its flexibility or stiffness (elastic modulus), since these properties are known to affect cell ...

Critical limb ischemia is a condition in which the main blood vessels supplying blood to the legs are blocked, causing blood flow to gradually decrease as atherosclerosis progresses in the peripheral arteries. It is a severe form of peripheral artery disease that causes progressive closure of arteries in the lower extremity, leading to the necrosis of the leg tissue and eventual amputation. Current treatments include angioplasty procedures such as stent implantation and anti-thrombotic drugs, but there is a risk of blood vessel damage and recurrence of blood clots, which is why there is a strong interest ...

Philadelphia, March 13, 2024 – A new study published in the American Journal of Obstetrics & Gynecology, published by Elsevier, challenges the prevailing view on the maternal death rate in the United States. The findings show that the rates of maternal death were stable between 1999-2002 and 2018-2021, instead of the dramatic upward trends previously reported by the National Vital Statistics System (NVSS), Centers for Disease Control and Prevention (CDC). Additionally, the study indicates that direct obstetric causes of death declined over the last 20 years. To determine whether the reported maternal death rates are accurate, a team of researchers took a deep dive into ...