pharmaphorum

FEBRUARY 25, 2021

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. In the future, Gourgeon went on, the data will help NHS Scotland to understand the impact of antenatal screening and to better support research.

Genome 111

Genome Genomics Genetics Medicine 111

Pharmaceutical Technology

JUNE 30, 2022

Earlier this month, scientists from Cambridge University and the Madrid-based National Cancer Research Center described a novel framework tracking chromosomal instability and copy number changes in particularly deadly cancers. Genomic research have greatly expanded our understanding of disease pathophysiology over the years.

Genome Project 130

Genome Project Genome Genomics DNA 130

pharmaphorum

MARCH 25, 2021

The COSMIC (Catalogue of Somatic Mutations in Cancer) database, operated by the Wellcome Sanger Institute, grew out of the work of the Cancer Genome Project and has been gathering data on mutations associated with specific cancers for almost 17 years.

Drugs 59

Drugs Genome Project Genome Genomics 59

Drug Discovery World

SEPTEMBER 20, 2022

Breakthroughs in gene therapy are only possible with an exact understanding of the genetic underpinnings of disease. To develop safe and effective gene therapies, researchers need confidence that genomic data is both complete and accurate. For years now the UK has been somewhat of a leader in genomic research.

Gene Therapy 52

Gene Therapy Gene Genome Genomics 52

Drug Discovery World

AUGUST 16, 2023

Decoding ‘junk DNA’ The Human Genome Project and subsequent studies discovered that most of our DNA (approximately 98%) does not actually code for proteins, with humans having approximately 20,000 tox 25,000 protein-coding genes. Furthermore, in the past, discovering the genetic switches of the dark genome would take years to identify.

RNA 52

RNA Genome Genomics DNA 52

pharmaphorum

SEPTEMBER 9, 2020

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.

Genome 102

Genome Genomics Genetics Genome Project 102

Pharmaceutical Technology

JUNE 14, 2023

However, more immeasurable characteristics such as personality, behaviour, and even intelligence are all influenced by genetics to varying degrees. All that DNA is organised into hereditary units called genes, with humans having about 25,000 genes collectively known as the genome. Each human cell has 1.8

Genome Project 130

Genome Project Medicine Genome Genomics 130

pharmaphorum

SEPTEMBER 9, 2020

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.

Genome 80

Genome Genomics Genetics Genome Project 80

pharmaphorum

FEBRUARY 26, 2021

Here are the challenges that the medical community faces, most of which relate to the lack of research data, high cost of developing treatments or orphan drugs and greater chances of failure. . Therefore, both these factors impede the research and development teams’ process of fostering innovations in the rare disease domain.

Drugs 78

Drugs Genome Project Genome Genomics 78

pharmaphorum

DECEMBER 6, 2022

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. In 2018, the 100,000 Genomes Project completed its collection of data from 100,000 participants and the study of that collected information is still on-going.

Genome Project 98

Genome Project Research Genome Genomics 98

Drug Discovery World

OCTOBER 16, 2023

Here, DDW’s Megan Thomas highlights the research taking place and where this is happening. This environment of research excellence, in turn, fosters R&D, innovation, spin-offs, start-ups, networking, collaboration and entrepreneurship, which sets a sturdy foundation that attracts funding, and creates an appealing work culture.

Drugs 75

Drugs Life Science Gene Therapy Genome 75

XTalks

APRIL 5, 2021

Bioinformaticians use a combination of mathematics, computer science and biology to help scientists make sense of the data gathered from research projects. The Human Genome Project could not have succeeded without the use of bioinformatics. This job furthers the field of biomedical research and supports drug development.

Bioinformatics 59

Bioinformatics Engineer Scientist Genome 59

XTalks

FEBRUARY 11, 2021

The Human Genome Project 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.

Genetics 119

Genetics DNA Genome Genomics 119

Drug Discovery World

APRIL 4, 2024

The data are expected to drive a new level of understanding about the genetics of cardiovascular disease, mental, reproductive and female health, cancer and rare diseases, and treatment outcomes.

Biobanking 52

Biobanking Genome Genomics Genome Project 52

Roots Analysis

AUGUST 31, 2023

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.

Genome 40

Genome Genomics Genetics Gene 40

pharmaphorum

SEPTEMBER 13, 2022

In fact, according to Blood Cancer UK research, more than half of UK adults cannot name a single symptom of blood cancer. . Over the past two centuries, researchers have identified more than 100 different types of blood cancer, while most patients may be familiar with the big three (leukaemia, lymphoma, and melanoma).

Genome Project 98

Genome Project Genome Genomics DNA 98

Drug Discovery World

JULY 19, 2023

Evan Floden , CEO of Seqera Labs examines how data sharing platforms are impacting cancer and genomics research. Increasingly, major collaborative life sciences projects, like the Human Genome Project or Human Cell Atlas, are driving advancements and organisations – both public and private – are taking note.

Genome 52

Genome Genomics Bioinformatics Genetics 52

Drug Discovery World

MARCH 6, 2024

The development of effective new disease-modifying treatments in neurodegenerative and neuropsychiatric disorders has been hindered by their inherent genetic complexity, environmental influences, and clinical variability. This is comparatively easier to accomplish in these diseases because they are relatively monogenic.

Genome 64

Genome Genomics Clinical Trials Clinical Trials 64

pharmaphorum

APRIL 20, 2022

As is typical, the research built on work going back years prior, specifically to 1987 when the first CRISPR mechanism was identified in E. coli, and their research in turn formed the foundation for the CRISPR-based therapies being explored to create new treatment options. Why cancer? The pipeline.

Gene Editing 52

Gene Editing DNA Gene Genetics 52

pharmaphorum

SEPTEMBER 14, 2020

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.

Genome 119

Genome Genomics Medicine Gene 119

Drug Discovery World

JULY 15, 2022

The first complete, gapless sequence of a human genome was published 1 April 2022 in a special issue of the journal Science 1. While The Human Genome Project mapped about 92% of the human genome two decades ago, sequencing the last 8% of the genome proved highly challenging.

Genome 52

Genome Genomics DNA Containment 52