Karen Lighting Jones, Head of Future Place at Roche. Back in 2016, Dame Sally Davies concluded her Chief Medical Officer annual report by saying “Genomics is not tomorrow, it’s here today. I believe genomic services should be available to more patients, whilst being a cost-effective service in the NHS”.
The advancement of sequencing technology has had the singe biggest effect on genomics research. As it develops further, so does the scope of genomic research and applications.
The largest study on autism spectrum disorders (ASD) to date has identified 102 genes involved in the disorder, including 37 new genes that had not been recognised before. Published in Cell, the findings help researchers better understand the causes of the disorder, and could possible help in developing new drug therapies for children with severe impairments.
Interview with Prof. Diana Baralle, Professor of Genomic Medicine, Honorary Consultant Clinical Genetics, University of Southampton
Dr Diana Baralle is a professor of genomic medicine at the University of Southampton, and an honorary consultant in clinical genetics. She runs a translational research group that drives forward functional genomics to improve diagnosis, investigating novel causes for rare disorders and in particular the role of RNA and splicing in genetic disease.
Scientists at the Broad Institute of MIT and Harvard and Dana-Farber Cancer Institute have found that drugs used for inflammation, diabetes, alcoholism, and arthritis also have anti-cancer properties. Published in Nature Cancer, this is the first study to screen an entire collection of mostly non-cancer drugs to see if they can kill cancer cells.
Dr Alfredo Iacoangeli is a post-doctoral researcher at King’s College London whose aim is the development of a high throughput gene, environment and epigenetics database and analysis system for international ALS research. We managed to have a chat with Alfredo ahead of him speaking at the Festival of Genomics about his work, and why he’s excited to be a part of the festival this year.
New research has identified a possible reason why men are more susceptible to cancer than women. The work published in the Journal of the National Cancer Institute reports that the loss of function in certain genes of the sex-determining Y chromosome may play a role in this.
A new discovery by a Japanese team has identified a type of microorganism called an Asgard archaeon, which could shed light on how early eukaryotic cells evolved. The project took 12 years after finding the cells in deep-sea mud. The findings of the closest Archaeal relative to eukaryotes cultures so far will allow further detailed cellular and metabolic investigation and find out more about the origins of complex life.
An international team of researchers has assembled a human genome using just the remnants of a piece of birch tar—last chewed some 5,700 years ago. Scientists have pieced together quite a bit about the person’s life using DNA left in the tar, learning about everything from her diet to certain diseases she carried.
Dozens of rare DNA variants have been identified in the largest genetic study of human height in an Asian population. The genome-wide association study (GWAS) highlighted some of the similarities and differences that play a role in determining height in different parts of the world.
A genome-wide analysis of nearly 200,000 military veterans has identified six genetic variants linked to anxiety. This is the largest genome-wide association study (GWAS) to date, and has given insights into how people may be pre-disposed to anxiety disorders and provides further explanations for why anxiety and depression often coexist.
A collaborative fine-mapping study from researchers across more than 450 departments worldwide has found five times more genetic variants to be associated with breast cancer than previously thought. The most comprehensive map of breast cancer risk variants to date identified 352 DNA errors that are associated with breast cancer with “reasonable confidence”, and target 191 genes, five times more than were previously recognised.
Scientists at Seattle’s Fred Hutchinson Cancer Research Centre have used a CRISPR-based tool to identify the role of ultra-conserved elements in DNA in blocking the growth of tumour cells and keeping healthy cells growing. Published in Nature Genetics, the research found the importance of these ultra-conserved elements that have remained identical between species, such as humans and mice, over millions of years and showed how essential they are in maintaining a healthy cell.
Get past the hype and bias in sequencing vendor marketing materials, and get an unbiased, highly informed view from a highly qualified professional whose job it is to evaluate sequencing technologies for a world leading healthcare and research institution – the Mayo Clinic. Get a base- to high-level understanding of the sequencing process, to give […]
Illumina, Inc. (Illumina) and Pacific Biosciences of California, Inc. (PacBio) announced that they have mutually agreed to terminate their merger agreement. The merger was first proposed in November 2018 that Illumina would be acquiring PacBio at a fully diluted enterprise value of ~$1.2 billion. Now with the merger terminated, Illumina will have to pay a termination fee of $98 million to PacBio.
Genetic and genomic testing has been a hot topic in the healthcare industry in recent years. The NHS has introduced a Genomic Medicine Service (GMS) in an aim to ensure equitable access to genetic and genomic testing and integrate this into routine NHS care by 2025, driving more personalised treatments for patients in the process.