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Category: genetics – Page 46

Gene therapy delivery device could allow for personalized nanomedicines on-demand

A new gene therapy delivery device could let hospital pharmacies make personalized nanomedicines to order. This democratized approach to precision medicine, as published in Frontiers in Science, could revolutionize how hospitals treat rare diseases, even in low-resource settings.

Rare diseases affect millions worldwide, yet the one-size-fits-all model of drug development leaves patients with few treatment options. Now a European research project called NANOSPRESSO aims to tip the balance in patients’ favor by boosting access to low-cost bespoke gene and RNA therapies.

The prototype NANOSPRESSO device combines two proven technologies— and lipid nanoparticles—into a portable manufacturing unit. Hospital pharmacists could use the unit to prepare sterile, injectable nanomedicines tailored to the specific genetic abnormality causing the patient’s condition, bypassing the need for centralized drug production.

Two classes of FOXA1 mutations found to drive prostate cancer and therapy resistance

A new study from the University of Michigan Rogel Health Cancer Center, published in Science, sheds light on how two distinct classes of mutations in the FOXA1 gene—commonly altered in prostate cancer—drive tumor initiation formation and therapeutic resistance.

FOXA1, a key transcription factor that facilitates binding to DNA, is mutated in 10–40% of hormone-dependent prostate cancers. While common, the exact ways these mutations alter cancer cells have remained elusive—until now.

Rogel researchers, including Arul Chinnaiyan, M.D., Ph.D., S.P. Hicks Endowed Professor of Pathology and Urology, and Abhijit Parolia, Ph.D., Rogel Fellow and Assistant Professor of Pathology, used mouse models to understand the mechanisms underlying two major classes of FOXA1 mutations.

A potential replacement for bone marrow sampling: New blood test may detect leukemia risk

What if a blood test could reveal the pace of our aging—and the diseases that may lie ahead? The labs of Profs. Liran Shlush and Amos Tanay at the Weizmann Institute of Science have been conducting in-depth studies into the biology of blood to better understand the aging process and why some people become more susceptible to disease over the years.

Their research teams, made up of physicians, biologists and , have been tracking changes in the , including the emergence of genetic changes in these cells in about one-third of people over the age of 40. These changes not only increase the risk of blood cancers such as leukemia, but have also been linked to heart disease, diabetes and other age-related conditions.

In a new study published today in Nature Medicine, Shlush and Tanay present findings that may lead to an innovative for detecting a person’s risk of developing leukemia. This test may potentially replace the invasive diagnostic procedure of bone marrow sampling.

Rewriting DNA- from Fiction to Reality

Gene therapy—once something out of science fiction—is now being used in real hospitals to treat real people. Gene editing has become a conversation of not only treating rare diseases but also about access, fairness, and how much control we should have over our biology.

Genes are sections of DNA that act like instruction manuals telling our cells how to build proteins. Proteins perform vital function like energy use, cellular communications, immunity and cell repair. So when people say “We are what our genes make us,” it’s because these gene-coded proteins guide our growth, health, and behaviour.

Sometimes, typos appear in these instruction manuals. They are called genetic mutations. While many mutations are harmless, some affect the protein made from the mutated gene and disrupt how the cell functions. Some cause serious diseases like cystic fibrosis, muscular atrophy or certain cancers.

How changes in the central amygdala drive anxiety

Researchers at the Max Planck Florida Institute for Neuroscience have discovered how loss of a gene strongly associated with autism and macrocephaly (large head size) rewires circuits and alters behavior.

Their findings, published in Frontiers in Cellular Neuroscience, reveal specific circuit changes in the amygdala resulting from PTEN loss in , providing new insights into the underlying circuit alterations that contribute to heightened fear and anxiety.

PTEN has emerged as one of the most significant autism risk genes. Variations in this gene are found in a significant proportion of people with autism who also exhibit brain overgrowth, making it a key player in understanding differences in brain function. To investigate the impact of PTEN misregulation, researchers have turned to animal models, where global reduction of PTEN results in altered sociability, repetitive behaviors, and increased anxiety that are often associated with ASD in humans.

AlphaGenome: AI for better understanding the genome

Introducing a new, unifying DNA sequence model that advances regulatory variant-effect prediction and promises to shed new light on genome function — now available via API.

The genome is our cellular instruction manual. It’s the complete set of DNA which guides nearly every part of a living organism, from appearance and function to growth and reproduction. Small variations in a genome’s DNA sequence can alter an organism’s response to its environment or its susceptibility to disease. But deciphering how the genome’s instructions are read at the molecular level — and what happens when a small DNA variation occurs — is still one of biology’s greatest mysteries.

Today, we introduce AlphaGenome, a new artificial intelligence (AI) tool that more comprehensively and accurately predicts how single variants or mutations in human DNA sequences impact a wide range of biological processes regulating genes. This was enabled, among other factors, by technical advances allowing the model to process long DNA sequences and output high-resolution predictions.

Scientists discover unknown organelle inside our cells

The discovery of an unknown organelle inside our cells could open the door to new treatments for devastating inherited diseases.

The , a type of specialized structure, has been dubbed a “hemifusome” by its discoverers at the University of Virginia School of Medicine and the National Institutes of Health. This little organelle has a big job helping our cells sort, recycle and discard important cargo within themselves, the scientists say. The new discovery could help scientists better understand what goes wrong in genetic conditions that disrupt these essential housekeeping functions.

“This is like discovering a new recycling center inside the cell,” said researcher Seham Ebrahim, Ph.D., of UVA’s Department of Molecular Physiology and Biological Physics. “We think the hemifusome helps manage how cells package and process material, and when this goes wrong, it may contribute to diseases that affect many systems in the body.”

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