article thumbnail

Searching for answers in rare epilepsy

pharmaphorum

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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. For some people, a job is more than just a job.

Genome 86
article thumbnail

Searching for answers in rare epilepsy

pharmaphorum

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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. For some people, a job is more than just a job.

Genome 76
Insiders

Sign Up for our Newsletter

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

article thumbnail

The pangenome is making personalised medicine more equitable

Pharmaceutical Technology

metres of supercoiled DNA contained within its nucleus. All that DNA is organised into hereditary units called genes, with humans having about 25,000 genes collectively known as the genome. The Human Genome Project was completed in April 2003 when the human reference genome was made public to the world.

article thumbnail

The future of genomic medicine: can it fulfil its promises?

pharmaphorum

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. I saw this, in particular, with the finishing of the human genome,” says Charlie. “At In reality, finishing the human genome was the first step of what is a long journey.”.

Genome 116
article thumbnail

Why a recent advancement is a giant leap for human genomics

Drug Discovery World

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
article thumbnail

Nutrigenomics: The Future of Personalized Nutrition

Roots Analysis

Nutrigenomics is the science studying the relationship between human genome, nutrition and health. In part, the success of the Human Genome Project has also paved a path for the novel concept of nutrigenomics. For example, people affected by phenylketonuria must avoid consuming food containing phenylalanine amino acid.

Genome 40
article thumbnail

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