Genetic Disease, Genotype and Scientist - Clinical Research Informer

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

pharmaphorum

JANUARY 18, 2023

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.

Genetic Disease

Genetic Disease Genetics Research Genome

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

XTalks

NOVEMBER 10, 2020

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

Genome Genomics Medicine Genetic Disease

BridgeBio Pharma’s Nulibry Approved as First Treatment for Molybdenum Cofactor Deficiency Type A

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. In the analysis involving 31 patients, 13 were treated with Nulibry and compared to 18 genotype-matched untreated patients from the history control group. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval

FDA Approval Genotype Clinical Trials Clinical Trials

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

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

BridgeBio Pharma’s Nulibry Approved as First Treatment for Molybdenum Cofactor Deficiency Type A

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