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. We now know that 80% of rare diseases have a genetic origin. Genomic technology, therefore, has a key role to play in our work,” he said.

Genome 111

Genome Genomics Genetics Medicine 111

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 101

Genome Genomics Genetics Genome Project 101

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

SEPTEMBER 13, 2022

Although early accounts of an illness akin to leukaemia can be traced back to Ancient Greece, the first official description of blood cancer didn’t appear until 1832, when British pathologist and pioneer of preventative medicine Thomas Hodgkin used the controversial concept of micrology to identify the abnormalities in the lymphatic system.

Genome Project 98

Genome Project Genome Genomics DNA 98

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

pharmaphorum

FEBRUARY 26, 2021

The field of medicine is riddled with challenges pertaining to diagnosis and finding treatment therapies for rare diseases. Small sample size in trials: Finding eligible patients for clinical trials of orphan medicines is a big challenge. Genetic testing has played a big role in enhancing the diagnosis process.

Drugs 77

Drugs Genome Project Genome Genomics 77

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

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

pharmaphorum

DECEMBER 6, 2022

A few decades ago, gathering genetic data on the scale of the 100,000 Genomes Project would have been unthinkable – it was only in 2003 that the entire human genome was mapped. This is the way in which the UK’s Our Future Health research programme aims to provide a breakthrough in healthcare and medicine.

Genome Project 98

Genome Project Research Genome Genomics 98