Science

Disruptive science can have a significant impact outside of our own domains of research and into our personal lives. Keeping abreast of these developments can help prepare and inspire.

A New Approach To Detecting Cancer Earlier From Blood Tests

Cancer scientists led by principal investigator Dr. Daniel De Carvalho at Princess Margaret Cancer Centre have combined “liquid biopsy,” epigenetic alterations and machine learning to develop a blood test to detect and classify cancer at its earliest stages.

New ML Program Can Characterise Single Cell RNA-seq

Neural networks and supervised machine learning (ML) techniques can characterise cells studied using single cell RNA-sequencing (scRNA-seq), scientists from Carnegie Mellon University (CMU) have learnt. This could aid others in identifying new cell subtypes and in discerning diseased cells.

CRISPR Repairs DNA Even Without Donor Template

CRISPR-Cas9 can carry out precise genome editing even without the assistance of donor DNA templates, a team of scientists from Brigham and Women’s Hospital and the Broad Institute of MIT and Harvard have found.

Mutations in “Guardian of the Genome” Assist Cancer in Spreading

Tumours are helped in their development by mutating the most important cancer-prevention gene, p53, scientists from Melbourne have found. The study, published in Genes and Development, found that mutant p53 prevents the regular p53 protein from activating its natural defences, increasing the risk of the cancer spreading.

Tiny Bio-Scaffold Could Perfect Stem Cell Transportation

A minuscule, biodegradable scaffold has been created to transplant stem cells and deliver drugs within the body, the Nature Communications journal has reported, which could help with treatments for Alzheimer’s and Parkinson’s diseases, as well as aging brain degeneration and spinal cord injuries.

New Drug Combination Could Halt Fibrosis

A combination of drugs has potentially been uncovered that could halt the progression of fibrosis, a disease thought to be responsible for almost half of all deaths, according to a new study.

Illumina Buys PacBio for $1.2bn

DNA sequencing company Pacific Biosciences (PacBio) is being bought for $1.2bn by bigger rival Illumina, it was announced yesterday. The deal represents a 71% premium on yesterday’s closing price for PacBio, and is the largest that Illumina has ever made.

AMP 2018: The Challenges of Introducing NGS to Clinics Globally

We spoke to Dr. Carlos Prada, Assistant Professor of Clinical Genetics at Cincinnati Children’s Hospital Medical Center within the University of Cincinnati Department of Pediatrics, and Dr. Emma Clement, Consultant in Clinical Genetics at Great Ormond Street Hospital in the UK, to find out how more about the challenges of implementing NGS globally, and where that implementation has been successful.

AMP 2018: Precision Medicine Starts Here

The Association for Molecular Pathology (AMP) Annual Meeting & Expo is where the molecular diagnostics community gathers to advance clinical knowledge, discuss new discoveries, share recent successes, and showcase the latest technological advances in molecular medicine.

Gene Editing Could Cure Fatal Muscle Disease

The editing of muscle cells in young beagles, bred to Duchenne muscular dystrophy, to remove a key barrier to higher protein production could greatly further the treatment of the disease in humans.

Maize genome complexity traversed with Oxford Nanopore technology

  Maize is one of the most economically important crops globally and much effort has been spent generating the high quality B73 reference genome. However, the 10 chromosome, 2.3 gigabase (Gb) B73 reference genome was a substantial challenge due to the fact it is comprised of 85% transposable elements, 75% of which are long terminal […]