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

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. It is characterized by a deficiency in molybdenum cofactor production. In the analysis involving 31 patients, 13 were treated with Nulibry and compared to 18 genotype-matched untreated patients from the history control group.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

APRIL 15, 2021

It’s not just one disease,” says Dr. Irene Blat, PhD, senior director of data products and analytics, Genuity Science. 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.

Development 98

Development Drugs Genome Genomics 98

Roots Analysis

AUGUST 12, 2024

According to the World Health Organization, there are over 40,000 in vitro diagnostics products available in the market. This vast array of products highlights the critical role of diagnostics in healthcare. Such test can be used for gene expression profiling, genotyping and detecting chromosomal abnormalities.

Genetics 40

Genetics Gene Expression RNA DNA 40

The Pharma Data

NOVEMBER 24, 2020

PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. On November 19, the European Commission granted marketing authorization for Oxlumo for the treatment of PH1 in all age groups, following a positive opinion from the Committee for Medicinal Products for Human Use (CHMP). President of R&D at Alnylam.

FDA Approval 52

FDA Approval Production RNA Medicine 52