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Category: biotech/medical

Scientists uncover a genetic ‘shield’ that lowers the risk of colorectal cancer

A team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S. have published a new paper on the role of TGFBR1*6A, a naturally occurring genetic mutation in the TGFBR1 gene found in approximately 14% of the general population.

The study, “TGFBR1*6A and risk for colorectal cancer,” published June 9, 2026, in Cancer Communications, focuses on TGFBR1*6A and how it influences a person’s risk of developing colorectal cancer. Dr. Boris Pasche, president and CEO of the Karmanos Cancer Institute and chair of the Wayne State University Department of Oncology, was the first to discover TGFBR1*6A as a cancer risk allele.

“This mutation has often been overlooked by genome-wide association study chips, which cannot detect TGFBR1*6A, and is commonly missed by next-generation sequencing platforms due to the complexity of the region,” said Dr. Allan Johansen, a postdoctoral fellow and first author of the paper.

Faster aging, chronic disease linked to WTC responders with PTSD

Post-traumatic stress disorder (PTSD) remains a common condition affecting World Trade Center (WTC) responders 25 years after the attack on the Twin Towers. While the condition is considered mainly psychological, a new study sheds light on changes in the biological processes of WTC patients with PTSD that may explain why PTSD is associated with a variety of chronic diseases that ultimately contribute to aging.

Completed by a team of researchers affiliated with the Stony Brook World Trade Center Health and Wellness Program, which monitors the health of and provides patient care to some 10,000 WTC responders, and scientists at Duke University, the study is published in Nature Communications.

The work represents more than a decade of research led by Benjamin J. Luft, MD, senior author, the Edmund D. Pellegrino Professor of Medicine in the Renaissance School of Medicine (RSOM) at Stony Brook University and director of the WTC Health and Wellness Program; and Pei-Fen Kuan, Ph.D., first author and professor in the Department of Applied Mathematics and Statistics in the College of Engineering and Applied Sciences at Stony Brook University.

Better heart ‘digital twins’ could help target treatment for atrial fibrillation

A cross-university paper led by researchers at Queen Mary University of London, published in the Journal of Physiology, shows how better “digital twins” could help doctors treat people with atrial fibrillation.

One of the leading causes of stroke, atrial fibrillation (AF) is an erratic, quivering heartbeat that affects more than 1.5 million people in the U.K. The most common treatment is a procedure called ablation, in which doctors use heat or cold energy to destroy the small patches of heart tissue that trigger the chaotic rhythm. It works, but not for everyone and not always the first time.

Repeat ablation is common in persistent AF partly because the condition involves complex, distributed electrical changes that are hard to map in a single procedure.

Quantum-inspired AI could tailor patients’ cancer treatment to their entire molecular background

For a child diagnosed with neuroblastoma—the most common infant cancer, occurring when early nerve cells grow out of control—the path to treatment isn’t simple. Some types of neuroblastoma resolve on their own, while others require aggressive intervention. Researchers have tried matching treatments to patients based on one-gene mutations with limited success. This is because patients’ outcomes depend on their entire molecular background, containing millions or even billions of features, such as DNA and RNA from tissues and blood.

“It’s much more than just one gene—everything that’s happening in the cells of the patient matters,” said Orly Alter, an associate professor of biomedical engineering at the University of Utah’s Scientific Computing & Imaging Institute.

Current artificial intelligence and machine learning (AI/ML) approaches require massive amounts of training data and, specifically, vastly more patient samples than genetic features.

Intracellular mechanisms promote tumor survival during hypoxia

Northwestern Medicine scientists have, for the first time, described the underlying mechanisms that regulate how cells rapidly change gene expression in response to hypoxia, a key feature of many treatment-resistant tumors, according to a recent study published in Science Advances.

Ali Shilatifard, Ph.D., the chair and Robert Francis Furchgott Professor of Biochemistry and Molecular Genetics, was the senior author of the study.

Scientists found an 8-year-old Neanderthal child in a Belgian cave, and the molar DNA found is said to be the oldest human genetic code ever sequenced, turning one hillside into a rare window on our deep past

Scientists have uncovered the oldest human genetic code from an 8-year-old Neanderthal child in Belgium, offering profound insights into our evolutionary past and Neanderthal development.

A selective, brain-penetrant GalR1 antagonist restores cholinergic signaling in vitro and rescues cholinergic cognitive deficits in mice

In this study, we characterized PAC-832, a small-molecule GalR1 antagonist with sub-micromolar potency (IC50 = 0.28 μM), 30-fold selectivity over GalR2 and GalR3, and excellent brain penetration and drug-like properties. In functional cell-based assays, PAC-832 reversed galanin-mediated suppression of acetylcholine release. In a scopolamine challenge model, PAC-832 attenuated cognitive deficits in the Y-maze and NOR tasks, with effect sizes comparable to donepezil.

The scopolamine model is widely used in behavioral mouse research to evaluate compounds for procognitive activity. However, because scopolamine impairs cognition by blocking muscarinic receptors rather than by reducing acetylcholine release, our behavioral results do not directly assess whether PAC-832 acts by restoring cholinergic signaling in vivo, or whether it acts through an alternative downstream mechanism. Establishing the former will require direct measurement of acetylcholine release in the CNS (e.g. using microdialysis or biosensor-based approaches) and/or GalR1-dependent in vivo validation (e.g. using transgenic GalR1-knockout mice).

Nonetheless, our work addresses a longstanding pharmacological gap in the galanin field. Despite decades of work implicating galanin signaling in CNS function and disease, translational progress has been limited by a lack of subtype-selective, brain-penetrant small molecule galanin modulators. Recent therapeutic development within the galanin field has largely focused on GalR2 agonism, while GalR1-targeting approaches have remained dependent on peptide tools unable to pass the blood-brain barrier. PAC-832 is, to our knowledge, the first GalR1-selective small molecule antagonist with sufficient brain exposure to test the effects of GalR1 antagonism following peripheral administration.

A species of gut bacteria could ease anxiety and diarrhea-predominant IBS

Irritable bowel syndrome (IBS) is a condition characterized by abdominal pain, bloating and changes in bowel movements, estimated to affect between 10% and 15% of people worldwide. Past studies suggest that in many cases this condition is accompanied by anxiety, an emotional state marked by worry, fear and/or overthinking about specific life events.

While IBS and anxiety are known to often occur together, the biological processes linking the two have not yet been fully elucidated. One possibility is that bacteria and other microorganisms living in the digestive tract, broadly referred to as gut microbiota, contribute to these biological processes.

Researchers at Wuhan University of Science and Technology and Huazhong University of Science and Technology carried out a study aimed at shedding more light on the biological mechanisms linking a type of IBS called diarrhea-predominant IBS (IBS-D), which is associated with frequent loose stools, with anxiety.

Single-cell dissection of plasma cell clonal evolution to smoldering multiple myeloma after CD19 CAR-T cell therapy in B-cell acute lymphoblastic leukemia

Chimeric antigen receptor T (CAR-T) cell therapy has revolutionized the treatment of B-cell malignancies, achieving deep and durable remissions in patients with B-cell acute lymphoblastic leukemia (B-ALL).1 Despite remarkable therapeutic successes, rare but clinically significant secondary hematologic malignancies have been reported during CAR-T cell therapy, often driven by lineage switching or clonal selection.2 Moreover, CAR-T cell therapy drives profound remodeling of the immune microenvironment, and the sustained inflammatory signaling may promote clonal evolution and influence disease progression.3 High-resolution approaches, such as single-cell RNA sequencing (scRNA-seq) and single-cell B-cell receptor sequencing (scBCR-seq), enable characterization of transcriptional programs, clonal identity, and temporal dynamics to dissect CAR-T cell therapy-induced clonal evolution and immune remodeling.4

Here, we report a case of B-ALL with B-cell receptor (BCR) heterogeneity at diagnosis that evolved into smoldering multiple myeloma (SMM) following CD19-targeted CAR-T therapy. The co-occurrence of B-ALL and SMM is exceptionally rare, as it requires malignant clones at distinct stages of B-cell development. This case provides a unique opportunity to dissect how CAR-T cell therapy drives B-lineage clonal evolution and reshapes the immune microenvironment. To this end, bone marrow mononuclear cells (BMMNC) were collected at multiple time points and subjected to longitudinal scRNA-seq and scBCR-seq to track dynamic changes in malignant and immune cell populations, thereby elucidating the mechanisms of clonal evolution and immune remodeling following CAR-T cell therapy. The patient gave informed consent and was enrolled in a clinical trial registered at clinicaltrials.gov (Identifier: NCT00123456).

A 13-second eye test may help predict recovery of consciousness after severe brain injury

A simple bedside eye test may help predict recovery of consciousness in patients with severe brain injuries, according to new research presented at the European Academy of Neurology (EAN) Congress 2026.

The study found that a previously overlooked phase of the pupil response to light, known as the late light-off response (LOR), predicted improvements in consciousness seven days later in patients with acute brain injury. In contrast, standard pupil measurements already widely used in intensive care units (ICUs), including the Neurological Pupil Index (NPi) and pupillary light reflex (PLR) latency, did not predict later gains in consciousness.

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