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 92

Genetic Disease Genetics Research Genome 92

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. HS: Absolutely.

Genome 98

Genome Genomics Medicine Genetic Disease 98

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. Molybdopterins are a class of cofactors found in most molybdenum-containing and all tungsten-containing enzymes. The approval was granted to BridgeBio Pharma, Inc. Nasdaq: BBIO ) and its affiliate Origin Biosciences, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

APRIL 24, 2023

Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.

Gene Therapy 95

Gene Therapy Gene Trials Clinical Trials 95

XTalks

APRIL 15, 2021

A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Instead, the team decided to target their search to the gene, promoter and enhancer regions, based on sequences from the GeneHancer database.

Development 98

Development Drugs Genome Genomics 98