This site uses cookies to improve your experience. To help us insure we adhere to various privacy regulations, please select your country/region of residence. If you do not select a country, we will assume you are from the United States. Select your Cookie Settings or view our Privacy Policy and Terms of Use.
Cookie Settings
Cookies and similar technologies are used on this website for proper function of the website, for tracking performance analytics and for marketing purposes. We and some of our third-party providers may use cookie data for various purposes. Please review the cookie settings below and choose your preference.
Used for the proper function of the website
Used for monitoring website traffic and interactions
Cookie Settings
Cookies and similar technologies are used on this website for proper function of the website, for tracking performance analytics and for marketing purposes. We and some of our third-party providers may use cookie data for various purposes. Please review the cookie settings below and choose your preference.
Strictly Necessary: Used for the proper function of the website
Performance/Analytics: Used for monitoring website traffic and interactions
In the same space, a different team of Cambridge scientists used whole genome sequencing to map out the largest sample of mutational signatures yet. The team identified 58 entirely new signatures and developed a computer tool that can help oncologists spot these signatures in individual patients.
Drug development has long been an issue for the pharma industry, due to the expense and the high failure rate of potential treatments. Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates.
We are already seeing an increase in projects exploring population genomics in Africa, the Middle East, and Asia, with initiatives including the GenomeAsia100K Project and the Genome Aggregation Database focusing on capturing genetic data of non-European individuals.
Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. We now know that 80% of rare diseases have a genetic origin. We need action plans to be comprehensive and ambitious.
Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential. Enhancing sequencing.
Similar to Newbury, McBean – known to be a highly respected tradesman – developed fatigue and severe pain from weak and easily broken bones. During this period, Nobel prize-winning German scientist Paul Ehrlich developed his lock-key hypothesis of molecules that specifically bind to cell receptors.
Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.
The COSMIC (Catalogue of Somatic Mutations in Cancer) database, operated by the Wellcome Sanger Institute, grew out of the work of the Cancer GenomeProject and has been gathering data on mutations associated with specific cancers for almost 17 years.
HOUSTON – (June 14, 2021) – In the two decades since the Human GenomeProject mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing.
With only <10% of the affected people having treatment for their rare condition, the question remains – what impedes the process of developing a treatment for such diseases? The domain is marred with poorly-developed study endpoints and insufficient patient data. The brighter side – innovations in rare disease .
Recent advances in DNA sequencing technologies have led to significant developments in healthcare-focused research on precision medicine and diagnostics. Nutrigenomics is the science studying the relationship between human genome, nutrition and health.
The potential of CRISPR technology has been a hot topic in the industry ever since it was first developed, but as trials progress further into the clinic, what therapeutic areas could be set to benefit? Cancer is a genetic disease, caused by certain changes in the way that genes control cell function, such as how they grow and divide.
The Human GenomeProject could not have succeeded without the use of bioinformatics. Since the conclusion of the project in 2003, bioinformatics tools have been used to identify genes and elucidate their function with the aim of developing gene-based strategies for disease prevention, diagnosis and treatment.
CRISPR works as genetic scissors to edit parts of the genome. The scientists on the advisory committee were particularly focused on the CRISPR gene editing technology itself and how companies like Vertex that are developing CRISPR-based therapies are ensuring their treatments are not making off-target gene edits.
The Human GenomeProject recently marked 20 years since the publication of the first full sets of human genomic sequences, an endeavor that spanned well over a decade. Today, new next-generation sequencing technologies allow for the sequencing of complex genomes within just a day or two. Rosalind Franklin.
Ben Hargreaves examines why a research project in the UK could provide key insights to develop treatments against many of the most prominent diseases impacting society. There are also hopes that clues could be found as to what risk factors are involved in the development of the most difficult to understand diseases.
We organize all of the trending information in your field so you don't have to. Join 21,000+ users and stay up to date on the latest articles your peers are reading.
You know about us, now we want to get to know you!
Let's personalize your content
Let's get even more personalized
We recognize your account from another site in our network, please click 'Send Email' below to continue with verifying your account and setting a password.
Let's personalize your content