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Category: genetics

New possible treatment pathway for Shank3-related autism discovered

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by differences in communication, behavior and the processing of sensory information. Past research has shown that some individuals diagnosed with ASD exhibit specific genetic variants or differences in the regulation of genes.

In some patients, the Shank3 gene was found to be mutated, partially or fully deleted, or not expressed as much. This gene is known to support the creation of junctions at which connected neurons communicate with each other, known as synapses.

Past findings suggest that people diagnosed with ASD who exhibit variants in Shank3 also present abnormalities in the volume, structure and function of white matter. White matter is a brain region filled with a fatty substance known as myelin, which insulates nerves and allows signals to travel faster within the nervous system.

Boosting telomerase activity slows lung cell aging in pulmonary fibrosis study

Pulmonary fibrosis—also known in technical terms as idiopathic pulmonary fibrosis (IPF)—is a rare but life-threatening disease. It causes scarring of the connective tissue between the functional tissue of the lungs, leading to increasing shortness of breath. Current treatments can slow the progression of fibrosis, but cannot cure it. The average life expectancy after diagnosis is only four to six years. New therapies are therefore urgently needed.

A research team led by Professor Christian Bär, research group leader at the Institute for Molecular and Translational Therapy Strategies at Hannover Medical School (MHH), and his colleague Dr. Shambhabi Chatterjee has turned its attention to the interior of cells, or more precisely to telomeres. These are protective caps at the ends of chromosomes, the carriers of our genetic information.

With each cell division, the telomeres shorten a little until they reach a critical length and the genes they protect could be damaged. Then the cell stops dividing and the tissue ages.

New genetic biomarker flags aggressive brain tumors

Clinicians typically classify meningiomas — the most common type of brain tumor — into three grades, ranging from slow-growing to aggressive.

But a new multi-institutional study suggests that appearances may be deceiving. If a tumor shows activity in a gene called telomerase reverse transcriptase (TERT), it tends to recur more quickly, even if it looks low-grade under the microscope.

Researchers discover that when meningiomas, a type of brain tumor, shows activity in the TERT gene, it tends to recur more quickly.

Nasopharyngeal stenosis following curative chemoradiation therapy for oropharyngeal cancer in a patient with active oral lichen

Case Report:

Lichen planus is an inflammatory disorder of immune dysregulation that affects the skin and mucosa. Oral lichen planus (OLP) is a chronic variant characterized by white mucosal lesions,1 most commonly with bilateral buccal mucosa involvement and frequently involving the tongue and gingiva as well.2 Although the underlying cause remains obscure, OLP is thought to have an autoimmune etiology and has been linked with genetic factors, hypertension, diabetes mellitus, hepatitis C virus, and thyroid dysfunction.3

OLP onset involves the activation of immune pathways leading to migration and activation of T cells and the destruction of keratinocytes.4 It is thought that oral mucosal keratinocytes are activated by the expression of unknown antigens, which recruit lymphocytes. This T-cell-mediated response is coupled with the simultaneous nonspecific response of matrix metalloproteases, chemokines and mast cells, together causing apoptosis of the basal keratinocytes by various mechanisms.

OLP can undergo malignant transformation to oral squamous cell carcinoma (OSCC) in a small subset of OLP patients (1%), more commonly in smokers, alcoholics, and hepatitis C patients.5 It is thus considered an OSCC precursor lesion. Topical steroids are the first-line treatment, but systemic steroids and topical calcineurin inhibitors can be used to manage recalcitrant cases.6

AI learns from the tree of life to support rare disease diagnosis

Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely to cause disease, even when those mutations have never been seen before in any person.

The model, called popEVE, was created using data from hundreds of thousands of different species and of genetic variation across the human population. The vast evolutionary record allows the tool to see which parts of every one of the roughly 20,000 human proteins are essential for life and which can tolerate change.

That allows popEVE to not only identify disease-causing mutations but also rank how severe they are across the body. The findings, published today in Nature Genetics by researchers at Harvard Medical School and the Center for Genomic Regulation (CRG) in Barcelona, could transform how doctors diagnose genetic disease.

Dr. Carina Kern — CEO, LinkGevity — Necrosis Inhibitors To Pause The Diseases Of Aging

Necrosis Inhibitors To Pause The Diseases Of Aging — Dr. Carina Kern Ph.D. — CEO, LinkGevity

Dr. Carina Kern, Ph.D. is the CEO of LinkGevity (https://www.linkgevity.com/), an AI-powered biotech company driving innovation in drug discovery for aging and resilience loss.

Dr. Kern has developed a new Blueprint Theory of Aging, which takes an integrative approach to understanding aging, combining evolutionary theory, genetics, molecular mechanisms and medicine, and is used to structure LinkGevity’s AI.

Dr. Kern’s labs are based at the Babraham Research Campus, affiliated with the University of Cambridge and her research has led to the development of a first-in-class necrosis inhibitor targeting cellular degeneration (Anti-Necrotic™). This novel therapeutic is ready to begin Phase II clinical trials later this year, as a potential breakthrough treatment for aging, with UK Government, Francis Crick Institute KQ labs, and European Union (Horizon) support.

The Anti-Necrotic™ has also been selected as one of only 12 global innovations for NASA’s Space-Health program, recognizing its potential to mitigate accelerated aging in astronauts on long-duration space missions.

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