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ACMG Foundation/Revvity 2024 Travel Award presented to Meena Sethuraman, BS

Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.

Study reveals key mechanisms of rare form of epilepsy

A study identifies a genetic mutation underlying KCNQ2 encephalopathy, a rare and devastating form of epilepsy. The research reveals key mechanisms by which the disorder manifests in patients, including suppression of normal gene function and altered protein distribution.

Why some RNA drugs work better than others

Researchers have discovered why some RNA-splicing drugs work better than others, revealing a key factor that impacts treatment efficacy. By analyzing the interactions between drugs and RNA, they found that combining splice-modifying drugs targeting the same gene segment can lead to greater therapeutic effects.

Aranet4 Home CO2 Monitor

Aranet4 Home CO2 Monitor tracks ventilation quality in labs, classrooms, and conference rooms with long battery life and clear e-ink readouts.

Nikon Monarch 5 8x42 Binoculars

Nikon Monarch 5 8x42 Binoculars deliver bright, sharp views for wildlife surveys, eclipse chases, and quick star-field scans at dark sites.

Key genes linked to DNA damage and human disease uncovered

A recent study has uncovered 145 genes crucial for genome stability, shedding light on genetic factors influencing human health over a lifespan. The research highlights the potential of SIRT inhibitors as a therapeutic pathway for cohesinopathies and other genomic disorders.

Newly discovered genetic malfunction causes rare lung disease

Researchers found a genetic disorder linked to the absence of a chemical receptor called CCR2, which is essential for alveolar macrophages to properly function. This leads to half the normal count of pulmonary alveolar macrophages, resulting in tissue injury and increased susceptibility to mycobacterial infections.

Predicting neurodevelopmental disease in children from parent’s traits

Researchers found that parents' manifestation of neurodevelopmental and psychiatric traits can predict the prevalence and severity of disorders in children. The study analyzed 97,000 families and revealed a correlation between parental traits, suggesting that assortative mating may contribute to increased disease severity.

Apple iPhone 17 Pro

Apple iPhone 17 Pro delivers top performance and advanced cameras for field documentation, data collection, and secure research communications.

A neurological disease paradigm shift

Researchers at McGill University propose a new biological classification system for Parkinson's disease, considering alpha-synuclein, neurodegeneration, and genetics. This shift in thinking aims to diagnose the disease earlier, targeting specific patient groups with more common biology, improving treatment development success.

Study pinpoints breast cancer ‘cells-of-origin’ in high-risk women

Scientists have identified likely 'cells-of-origin' that can grow into breast cancer in women carrying a faulty BRCA2 gene, who are at high risk of developing the disease. The study also showed these cells have potential to be targeted with an existing cancer drug to delay tumour growth.

A blood test can identify genetic diseases in fetuses

A research team developed a novel blood test called desNIPT to screen pregnant women for genetic diseases in their unborn children. The test has demonstrated effectiveness in identifying alterations in fetal genes, similar to invasive procedures like chorionic villus sampling or amniocentesis.

CalDigit TS4 Thunderbolt 4 Dock

CalDigit TS4 Thunderbolt 4 Dock simplifies serious desks with 18 ports for high-speed storage, monitors, and instruments across Mac and PC setups.

Off-label use of a common antibiotic to treat muscular dystrophy

Researchers from Osaka University have identified erythromycin as a potential treatment for myotonic dystrophy type 1, a genetic disease characterized by progressive muscular weakness. The antibiotic showed acceptable safety and tolerability profiles in a phase 2 clinical trial, with some patients experiencing significant improvements ...

Enzymes can’t tell artificial DNA from the real thing

Researchers have found that RNA polymerase can recognize and transcribe artificial base pairs in the same manner as natural ones, paving the way for custom protein design. This breakthrough could revolutionize medicine by creating new medicines through designer proteins.

DJI Air 3 (RC-N2)

DJI Air 3 (RC-N2) captures 4K mapping passes and environmental surveys with dual cameras, long flight time, and omnidirectional obstacle sensing.

Repairing nerve cells after injury and in chronic disease

Researchers at Salk Institute uncover a mechanism for repairing damaged nerves during peripheral neuropathy, with protein Mitf playing a key role. The findings have the potential to inspire novel therapeutics that bolster repair function and heal peripheral neuropathy.

Fluke 87V Industrial Digital Multimeter

Fluke 87V Industrial Digital Multimeter is a trusted meter for precise measurements during instrument integration, repairs, and field diagnostics.

Potential new target and drug candidate for Barth syndrome

Researchers at the University of Pittsburgh have discovered a potential new target for treating Barth syndrome, a rare genetic disease with devastating consequences. They identified a molecular culprit that could be targeted to potentially reverse the disease course and developed a small-molecule drug candidate to correct genetic tafaz...

New research advances understanding of cancer risk in gene therapies

Researchers discovered a link between gene therapy and the accumulation of stem cells with genetic mutations, which can lead to accelerated growth and increased blood cancer risk. The study suggests that younger patients may be safer candidates for gene therapy due to fewer genetic mutations.

Garmin GPSMAP 67i with inReach

Garmin GPSMAP 67i with inReach provides rugged GNSS navigation, satellite messaging, and SOS for backcountry geology and climate field teams.

Researchers identify the variants responsible for a rare and serious disorder

A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.

Apple MacBook Pro 14-inch (M4 Pro)

Apple MacBook Pro 14-inch (M4 Pro) powers local ML workloads, large datasets, and multi-display analysis for field and lab teams.

Novel procedure reduces the risk of mitochondrial disease transmission

A novel procedure using a refined technique and narrower tube has reduced the risk of transmitting mitochondrial disease during assisted reproduction. The study found that the new protocol resulted in normal development of embryos and healthy offspring, with minimal transfer of maternal mitochondria to the offspring.

Plant chloroplasts promise potential therapy for Huntington’s disease

Researchers discovered a synthetic plant biology approach to prevent protein aggregation in human cells and nematodes, using the plant enzyme stromal processing peptidase (SPP) derived from chloroplasts. This finding opens the door to testing SPP as a potential therapy for Huntington's disease.

SAMSUNG T9 Portable SSD 2TB

SAMSUNG T9 Portable SSD 2TB transfers large imagery and model outputs quickly between field laptops, lab workstations, and secure archives.

Small but mighty new gene editor

A new CRISPR-based gene-editing tool, AsCas12f, has been developed with enhanced editing ability and compact size. The engineered enzyme has already shown success in animal trials and holds promise for improved treatments of genetic disorders.

A NICER approach to genome editing

Researchers at Osaka University have developed a new gene editing technique called NICER, which significantly reduces off-target mutations compared to traditional CRISPR/Cas9 methods. This novel approach uses multiple small cuts in DNA strands and promotes interhomolog homologous recombination to correct heterozygous mutations.

Creality K1 Max 3D Printer

Creality K1 Max 3D Printer rapidly prototypes brackets, adapters, and fixtures for instruments and classroom demonstrations at large build volume.

Pitt researchers to study Alzheimer’s disease in marmosets

Researchers developed a new model of hereditary Alzheimer's disease in marmosets by introducing mutations into the PSEN1 gene, which causes early-onset disease in humans. The study aims to characterize and validate genetic, molecular, functional, and cognitive features of aging and Alzheimer's disease in these animals.

Anker Laptop Power Bank 25,000mAh (Triple 100W USB-C)

Anker Laptop Power Bank 25,000mAh (Triple 100W USB-C) keeps Macs, tablets, and meters powered during extended observing runs and remote surveys.

Apple AirPods Pro (2nd Generation, USB-C)

Apple AirPods Pro (2nd Generation, USB-C) provide clear calls and strong noise reduction for interviews, conferences, and noisy field environments.

Sky & Telescope Pocket Sky Atlas, 2nd Edition

Sky & Telescope Pocket Sky Atlas, 2nd Edition is a durable star atlas for planning sessions, identifying targets, and teaching celestial navigation.

IU researchers diagnose Indianapolis Zoo orangutan with rare genetic disease

Researchers from IU School of Medicine have diagnosed a Sumatran Orangutan named Mila at the Indianapolis Zoo with Alkaptonuria, a rare autosomal recessive disorder. The diagnosis was confirmed through molecular analysis of DNA, providing veterinarians with crucial information on Mila's health and treatment options.

Rigol DP832 Triple-Output Bench Power Supply

Rigol DP832 Triple-Output Bench Power Supply powers sensors, microcontrollers, and test circuits with programmable rails and stable outputs.