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 95

Genetic Disease Genetics Research Genome 95

Drug Discovery World

JULY 3, 2023

The OXEGENE dataset contains anonymised genotype data including disease stage and infertility status, from 1,000 surgically confirmed patients. We hope that the analysis of our data will lead to the development of precision medicines to improve the lives of patients.”

Genetics 52

Genetics Genotype Medicine Licensing 52

The Pharma Data

MARCH 7, 2022

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. director of the FDA’s Center for Veterinary Medicine. “It This is the FDA’s first low-risk determination for enforcement discretion for an IGA in an animal for food use.

Genome 52

Genome Genomics Production Marketing 52

XTalks

APRIL 24, 2023

Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. The European Medicines Agency (EMA) initially recommended six novel advanced therapy medicinal products (ATMPs) with orphan designation in 2022, but the orphan designation of one of these ATMPs was later withdrawn.

Gene Therapy 95

Gene Therapy Gene Trials Clinical Trials 95

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

XTalks

FEBRUARY 4, 2021

The power of leveraging clinical data to decipher disease mechanisms and fuel drug discovery has rapidly grown in the era of genomics and personalized medicine. This includes precision medicine strategies which can be effectively guided through high-level translational research led by clinical data.

Research 98

Research Biobanking Drugs Genome 98