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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return. Navigating the right not to know.

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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98
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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
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FDA Makes Low-Risk Determination for Marketing of Products from Genome-Edited Beef Cattle After Safety Review

The Pharma Data

Decision Regarding Slick-Haired Cattle is Agency’s First Enforcement Discretion Decision for an Intentional Genomic Alteration in an Animal for Food Use. The IGA results in the equivalent genotype (genetic make-up) and short-hair coat trait seen in some conventionally bred cattle, known as a “slick” coat. Today, the U.S.

Genome 52
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Endometriosis partners to discover personalised treatments

Drug Discovery World

The OXEGENE dataset contains anonymised genotype data including disease stage and infertility status, from 1,000 surgically confirmed patients. There are currently no approved diagnostic biomarkers or cures for the disease.

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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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HFpEF vs. HFrEF: How To Improve Heart Failure Drug Development

XTalks

New advances in heart failure genomics are helping to address this challenge. Experts from Servier and Genuity Science recently spoke on a webinar about using genomics data to drive drug development in heart failure and identify new targets for novel therapeutics. Watch this on-demand webinar to hear from these experts.