Drug Discovery World

NOVEMBER 7, 2022

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Context . This personalised approach increased the diagnostic rate from 16.7% of patients. .

Genome 52

Genome Genomics Genetics Genetic Disease 52

pharmaphorum

FEBRUARY 26, 2021

Every time a patient with a rare condition walks into a hospital, doctors face the probable challenge of starting from scratch. 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?

Drugs 78

Drugs Genome Project Genome Genomics 78

pharmaphorum

FEBRUARY 25, 2021

The detail remains to be written,” he said, explaining that all four nations would now develop their own action plans for the implementation of the framework. “We 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

pharmaphorum

SEPTEMBER 9, 2020

She developed fine for the first six months of her life,” he says, “but then she stopped smiling, she stopped giggling, and stopped taking an interest in her surroundings. Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night.

Genome 103

Genome Genomics Genetics Genome Project 103

pharmaphorum

SEPTEMBER 9, 2020

She developed fine for the first six months of her life,” he says, “but then she stopped smiling, she stopped giggling, and stopped taking an interest in her surroundings. Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night.

Genome 80

Genome Genomics Genetics Genome Project 80

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

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.

Genetics 119

Genetics DNA Genome Genomics 119