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 […]
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.
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.
Scientists have developed a new genetic risk score that is similarly or more predictive than commonly known risk factors for stroke. They developed this meta-scoring approach model to identify individuals at a 3-fold increased risk of developing ischaemic stroke – one of the leading causes of disability and death world-wide
We met with Chris Wigley, CEO and Sir Mark Caulfield, Chief Scientist at Genomics England, at the first Genomics England Research conference taking place in November 2019 in London. We started by asking them how Genomics England is getting on with their objectives.
Researchers at Lancaster University have been the first to discover a genetic alteration that increases the risk of developing Autism Spectrum Disorder and Tourette Syndrome, as published in the journal Cerebral Cortex. Their findings suggest that ketamine, or related drugs, may be a useful treatment for both disorders.
A new study by Northwestern Medicine has become the first to compare gene expression levels in African American populations by studying the levels of mRNA expressed in the liver. Previous studies have compared only African and European individuals separately and this study aimed to address the “grey” area of mixed ethnicities.
Returning for its 5th consecutive year, the 2020 Festival promises to be a unique experience, a crossroads for the entire genomics ecosystem to discover, meet, learn, have fun and celebrate. It is the largest genomics event in the UK and the fastest growing genomics event in the world. The Festival delivers incredible talks, speakers, cutting-edge content, inspirational topics, […]
Just one mutation in the ‘Dark DNA’ of the genome could drive the progression of a range of cancers. Dark DNA is the 98% of the genome that does not code for any proteins. Laxmi Parida, a Dark DNA researcher, describes it as ‘the part of the DNA that we – the scientific community – […]
51% of child cancer patients in a recent trial had gene mutations in their tumours that could be targeted by an existing adult cancer drug. However, due to clinical obstacles only 7% were able to receive the relevant drug, raising concerns about the lack of cancer therapies available for children. Treating cancer in children is […]
Front Line Genomics hosted the webinar Improved Methods for CRISPR Homology-Directed Repair Using Alt-R HDR Enhancer and ssDNA Donors with Optimized Design, which you can watch on demand for free here. The webinar described how to overcome some of the bottlenecks to using the CRISPR-Cas9 for genome manipulation and ensure its efficacy in a clinical […]
Digital DNA: Diagnosing Rare Diseases – An Interview with David Bick, Smith Family Clinic for Genomic Medicine
The Digital DNA series explores the role of large-scale genetic testing in science, industry and society. We aim to understand both the benefits and risks of this emerging technology and see what the future may hold. We talked to Dr. David Bick, Clinical Geneticist at the Smith Family Clinic for Genomic Medicine and Chief Medical […]
Dr Michelle Krishnan, Translational Medicine Leader in Rare Diseases at Roche, will by speaking at our upcoming Festival of Genomics. Her talk Clinical Development in Rare Diseases: Angelman Syndrome, From Disease Biology Insights to Genomic Medicine, will explain how to leverage disease biology insights to drive development of genomic medicines and discuss the cutting-edge clinical trial […]
A new ground-breaking project in the fight against life-threatening illnesses has launched today. The £200 million whole genome sequencing project is being created, forming a partnership of pharmaceutical firms and health experts which will examine and sequence the genetic code of 500,000 volunteers at the UK Biobank, based in Stockport. Prime Minister Boris Johnson said: […]
Despite vast progress in leveraging the CRISPR-Cas9 system for genome manipulation, bottlenecks still remain. Overcoming these bottlenecks is critical to ensure the efficacy of this technology in a clinical context. Several engineering approaches involve inducing a double -stranded break (DSB) to introduce new mutations, which are then repaired by the endogenous cellular machinery. The two […]
Improved Methods for CRISPR Homology-Directed Repair Using Alt-R HDR Enhancer and ssDNA Donors with Optimized Design
CRISPR-Cas proteins introduce double-stranded breaks (DSBs) at targeted genomic loci. These are repaired by endogenous cellular pathways such as non-homologous end joining (NHEJ) and homology-directed repair (HDR). Providing a ssDNA template during repair allows researchers to introduce a desired mutation precisely, by utilizing the HDR pathway. However, rates of HDR are often low compared to […]