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UK agency pilots biobank to study links between genetics and drug side effects

Pharmaceutical Technology

This would ideally allow doctors to use rapid genomic screening tests that can help them to select the safest potential treatment for a patient. The 100,000 Genomes Project was initially announced in December 2012, with Genomics England being launched later in July 2013.

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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

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
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Expediting innovation in the rare disease domain

pharmaphorum

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

Drugs 66
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Building a better future for people with rare diseases in all four UK nations

pharmaphorum

In the future, Gourgeon went on, the data will help NHS Scotland to understand the impact of antenatal screening and to better support research. The Scottish Government has supported the transition of genomic testing for inherited rare disease from the research setting into routine care,” she went on. “As

Genome 104
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Women in Science Who Have Paved the Way Forward in Genetics

XTalks

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
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Searching for answers in rare epilepsy

pharmaphorum

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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Luckily, we had a night vision camera in her room,” says Charlie. “If

Genome 90
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Searching for answers in rare epilepsy

pharmaphorum

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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Luckily, we had a night vision camera in her room,” says Charlie. “If

Genome 79