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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. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 102
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The pangenome is making personalised medicine more equitable

Pharmaceutical Technology

However, more immeasurable characteristics such as personality, behaviour, and even intelligence are all influenced by genetics to varying degrees. 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.

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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. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 80
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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. Rosalind Franklin.

Genetics 119
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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
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The future of genomic medicine: can it fulfil its promises?

pharmaphorum

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
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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