News
New tool to explore mechanisms of age-related diseases

A new screening tool has been developed that will investigate the mechanisms behind conditions such as cancer, arthritis, neurodegeneration and cardiovascular disease.
Wellcome Sanger Institute researchers and their collaborators at Open Targets and EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed the screening tool called scSNV-seq.
The tool has been designed to uncover how genetic changes affect gene activity that can lead to diseases such as cancer, autoimmunity, cardiovascular disease and neurodegenerative diseases such as Alzheimer’s and Parkinson’s.
The tool enables the investigation of thousands of DNA mutations identified by genetic studies in one experiment, and will help to guide the development of advanced diagnostics and treatments.
scSNV-seq allows the rapid assessment of the impact of thousands of genetic changes in cells that have never been screened before, directly connecting these changes to how those same cells operate.
This technique helps researchers to pinpoint mutations that contribute to disease, which will offer crucial insights for developing targeted therapies.
In a new study, published in Genome Biology, the team applied scSNV-seq to the blood cancer gene, JAK1, accurately assessing the impact of JAK1 mutations.
The assessment revealed for the first time that certain mutations caused a “halfway house” phenotype cycling between different states which was not possible under previous approaches.
The technique is designed to demonstrate versatility across cell types, including hard-to-culture primary cells like T cells and stem-cell derived neurons, as well as various editing methods such as base editing and prime editing.
Applied on a large scale, scSNV-seq could transform understanding of the genetic changes driving cancer and decoding genetic risk for Alzheimer’s, arthritis, diabetes and other complex diseases.
Dr Sarah Cooper, first author of the study at the Wellcome Sanger Institute, stated: “In an era where the rate of genetic variant discovery outpaces our ability to interpret their effects, scSNV-seq fills a major gap for studying challenging cells like T cells and neurons.
“We are already using it to shed light on the impact of Alzheimer’s and Parkinson’s risk variants on brain cells.”
Dr Andrew Bassett, senior author of the study at the Wellcome Sanger Institute, said: “Our technique is able to directly connect effects of mutations to how a cell behaves, revealing downstream impacts that previous technologies alone cannot deliver.
“The technique speeds up the identification of causal genetic mutations, which will allow better diagnosis and deepens our molecular understanding of diseases, paving the way for more targeted and effective treatments.”
News
Mole rat gene extends mouse lifespan
News
AI can predict Alzheimer’s with almost 93% accuracy, researchers say

Alzheimer’s AI can predict the disease with nearly 93 per cent accuracy using more than 800 brain scans, researchers say.
The system identified anatomical changes in the brain linked to the onset of the most common form of dementia, a condition that gradually damages memory and thinking.
The findings build on years of research suggesting AI could help spot early Alzheimer’s risk, predict disease and identify patients whose condition has not yet been diagnosed.
Benjamin Nephew, an assistant research professor at the Worcester Polytechnic Institute in Massachusetts, said: “Early diagnosis of Alzheimer’s disease can be difficult because symptoms can be mistaken for normal ageing.
“We found that machine-learning technologies, however, can analyse large amounts of data from scans to identify subtle changes and accurately predict Alzheimer’s disease and related cognitive states.”
The study used MRI scans, a type of detailed brain imaging, from 344 people aged 69 to 84.
The dataset included 281 scans showing normal mental function, 332 with mild cognitive impairment, an early stage of memory and thinking decline, and 202 with Alzheimer’s.
The scans covered 95 of the brain’s nearly 200 distinct regions and used an AI algorithm to predict patients’ health.
Being able to use AI to help diagnose Alzheimer’s earlier could give patients and doctors crucial time to prepare and potentially slow the progression of the disease.
The analysis showed that one of the top predictive factors was brain volume loss, or shrinkage, in the hippocampus, which helps form memories, the amygdala, which processes fear, and the entorhinal cortex, which helps provide a sense of time.
This pattern held across age and sex, with both men and women aged 69 to 76 showing volume loss in the right part of the hippocampus, suggesting it may be an important area for early diagnosis, the researchers noted.
However, the research also found that the way brain regions shrink differs by sex.
In females, volume loss occurred in the brain’s left middle temporal cortex, which is involved in language and visual perception. In males, it was mainly seen in the right entorhinal cortex
The researchers believe this could be linked to changes in sex hormones, including the loss of oestrogen in women and testosterone in men.
These conclusions could help improve methods of diagnosis and treatment going forward, Nephew said.
More than 7.2m Americans are living with Alzheimer’s, according to the Alzheimer’s Association.
More research is being done to reveal other impacting factors.
Nephew said: “The critical challenge in this research is to build a generalisable machine-learning model that captures the difference between healthy brains and brains from people with mild cognitive impairment or Alzheimer’s disease.”
News
Vision implant firm raises US$230m
News2 weeks agoInterview: The US company appealing Europe’s rejection of daily Alzheimer’s pill
News4 weeks agoLongevity startup Biopeak raises US$2.7m
News4 weeks agoBryan Johnson launches US$1m longevity programme
News4 weeks agoAgetech investment & innovation round-up
News2 weeks agoCentenarians’ blood reveals longevity clues
News4 weeks agoInterview: Dr Matthew Bennett on building resilience and a pain-free healthspan
News4 weeks agoRe:Cognition and Cera expand Alzheimer’s clinical trials access
News4 weeks agoFrench biotech raises €12m for osteoarthritis trial





















