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Category: genetics

Researchers develop novel antibody-RNA therapy for resistant cancers

A specially engineered antibody that can accurately deliver RNA treatments into hard-to-reach and hard-to-treat tumors significantly improved survival and reduced tumor sizes in animal models, according to a study reported in Science Translational Medicine.

The study provides evidence that, once injected into the bloodstream, the antibody TMAB3, combined with a type of RNA that stimulates an innate immune reaction, can localize to tumors and penetrate and destroy stubborn diseased cells in pancreatic, brain, and .

“Delivery of RNA-based therapies to tumors has been a challenge. Our finding that TMAB3 can form antibody/RNA complexes capable of delivering RNA payloads to tumors provides a new approach to overcome this challenge,” says Peter Glazer, senior author and Robert E. Hunter Professor of Therapeutic Radiology and Genetics at Yale School of Medicine (YSM).

8 Babies Born in UK Using Radical ‘Three Parent’ IVF Technique

Eight healthy babies have been born in the UK using a new IVF technique that successfully reduced their risk of inheriting genetic diseases from their mothers, the results of a world-first trial said Wednesday.

The findings were hailed as a breakthrough which raises hopes that women with mutations in their mitochondrial DNA could one day have children without passing debilitating or deadly diseases on to the children.

One out of every 5,000 births is affected by mitochondrial diseases, which cannot be treated, and include symptoms such as impaired vision, diabetes and muscle wasting.

NIST Releases Trove of Genetic Data to Spur Cancer Research

To analyze the genome of pancreatic cancer cells, NIST researchers used 13 distinct state-of-the-art whole genome measurement technologies, some of which were only recently developed.

Each method identifies the sequence of DNA nucleotides — adenine (A), cytosine ©, guanine (G) and thymine (T) — in an individual’s genome. However, the methods produce slightly varying results and have different strengths and weaknesses.

NIST’s dataset contains separate results for each of the 13 techniques used to sequence the cancer genome. Scientists performing their analysis can compare their data with NIST’s. If there are discrepancies, they can then determine whether their equipment is working properly and remedy the problem if not.

Circadian disruption by night light linked to multiple cardiovascular outcomes

Flinders Health and Medical Research Institute researchers, along with colleagues in the UK and U.S., have linked brighter night-time light exposure to elevated risks of five major cardiovascular diseases.

Circadian rhythms govern fluctuations in blood pressure, heart rate, platelet activation, hormone secretion, and glucose metabolism. Long-term disruption of those rhythms in animal and human studies have produced myocardial fibrosis, hypertension, inflammation, and impaired autonomic balance. Previous research efforts relied largely on satellite-derived estimates or small cohorts using bedroom or wrist light sensors, leaving personal exposure patterns uncharted at population scale.

In the study, “Personal night light exposure predicts incidence of cardiovascular diseases in 88,000 individuals,” posted on medRxiv, researchers conducted a prospective cohort analysis to assess whether day and night light exposure predicts incidence of cardiovascular diseases and whether relationships vary with genetic susceptibility, sex, and age.

Producing library of heterogeneous human neurons from stem cells

Nerve cells are not just nerve cells. Depending on how finely we distinguish, there are several hundred to several thousand different types of nerve cell in the human brain according to the latest calculations. These cell types vary in their function, in the number and length of their cellular appendages, and in their interconnections. They emit different neurotransmitters into our synapses and, depending on the region of the brain – for example, the cerebral cortex or the midbrain – different cell types are active.

When scientists produced nerve cells from stem cells in Petri dishes for their experiments in the past, it was not possible to take their vast diversity into account. Until now, researchers had only developed procedures for growing a few dozen different types of nerve cell in vitro. They achieved this using genetic engineering or by adding signalling molecules to activate particular cellular signalling pathways. However, they never got close to achieving the diversity of hundreds or thousands of different nerve cell types that actually exists.

“Neurons derived from stem cells are frequently used to study diseases. But up to now, researchers have often ignored which precise types of neuron they are working with,” saysthe senior author. However, this is not the best approach to such work. “If we want to develop cell culture models for diseases and disorders such as Alzheimer’s, Parkinson’s and depression, we need to take the specific type of nerve cell involved into consideration.”

New gene tool leads to better treatments for complex diseases

Genetic changes can signal evidence of disease, but pinpointing which genes and what’s changed can be difficult.

But in a study of traits that offer clues to a person’s —such as lipid and and inflammation—a team of researchers at Case Western Reserve University devised a and tool to improve how genes and genetic changes that cause diseases are identified.

Their new approach could allow doctors to detect and treat so-called cardiometabolic diseases earlier in their development. Their findings were recently published in the journal Nature Communications.

Is Intelligence Genetic? Scientists Discover Heritable Brain State That Powers Cognitive Flexibility

Brain dynamics and cognition share genetic roots. Criticality may guide future brain health research. A recent study published on June 24 in PNAS presents strong evidence that brain criticality—the delicate balance between neural excitation and inhibition—is heavily influenced by genetic factors

Novel molecular mechanisms inform targeted therapies for chronic kidney disease

A recent study led by Paul DeCaen, Ph.D., associate professor of Pharmacology, has identified novel molecular mechanisms by which genetic mutations in the PKD2 gene cause the most common form of polycystic kidney disease, according to findings published in the Proceedings of the National Academy of Sciences.

PKD2 encodes an localized to the primary cilia of cells lining the kidney collecting ducts, a series of tubules and ducts that helps achieve electrolyte and fluid balance in the body. Both inherited and acquired mutations in PKD2 are known to cause (ADPKD), a condition characterized by the growth of fluid-filled cysts in the kidneys that can lead to and other serious complications.

According to the National Institute of Diabetes and Digestive and Kidney Diseases, one in 1000 individuals will develop ADPKD and more than 95% of patients carry disease-causing genetic variants in PKD1 or PKD2. However, there are no available therapies that target these disease-causing variants.