Clinical genomics

Efficiently translating genomic research into the clinic is one of the most important steps in the development of the field. The clinic is where we will see things come to fruition.

Mitochondrial DNA Can be Inherited from Fathers

Despite what was previously thought, some mitochondrial DNA can be inherited from fathers as well as mothers, scientists have found. A study, published recently in PNAS, began when the Cincinnati Children’s Hospital Medical Centre tested a child showing signs of fatigue and muscle pain to see if he had a mitochondrial disorder.

CRISPR-Edited Twins Allegedly Born in China

Twin girls in China have allegedly been born after having their embryonic genetic code modified using CRISPR. Chinese researcher He Jiankui, from the Southern University of Science and Technology, claims to have turned off a gene called CCR5 to offer total protection against HIV, as well as smallpox and cholera.

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.

Defective DNA Repair Leads to Genome “Chaos”

Scientists have found a cause for the frequent and damaging events in cancer cells’ genetic material where sections of individual chromosomes were broken at a number of points and reassembled wrongly, so entire sections were missing and others were duplicated or incorporated in a wrong orientation.

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.

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: An Interview with Dr. Jonathan Rothberg

Dr. Jonathan Rothberg is a man who needs little introduction, and is now receiving the Association of Molecular Pathology’s (AMP) Award for Excellence in Molecular Diagnostics Services. We spoke to him about his many achievements, his proudest moments, and the future of his fascinating field.