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 88

Genetic Disease Genetics Research Genome 88

XTalks

MARCH 3, 2021

The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

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 98

Genome Genomics Medicine Genetic Disease 98