Go to website

News of the Week

Summary of industry news related to rare diseases and genetic diagnostics industry
52 posts
News of the Week

[September 29, 2022] News of the Week

Rare disease diagnostics & researchResearchers at the University of Pennsylvania and the University of Florida are developing an AI algorithm to calculate the risk for rare…

News of the Week

[September 22, 2022] News of the Week

Rare disease diagnostics & researchCystinosis is a rare disease with fatal complications from abnormal cystine accumulation. Researchers at UC Santa Cruz, Stanford University, and the University…

News of the Week

[September 15, 2022] News of the Week

Rare disease diagnostics & researchAlthough ACMG recommends that pediatric patients with specific symptoms undergo exome or genome sequencing tests as the first test, it still takes…

News of the Week

[September 8, 2022] News of the Week

Rare disease diagnostics & researchOxford Nanopore Technologies and Al Jalila Children's Specialty Hospital (AJCH) have launched a pilot program to diagnose undiagnosed rare disease patients. Through…

News of the Week

[September 1, 2022] News of the Week

Rare disease diagnostics & researchFive research groups collaborated to analyze 150,000 people’s genetics, including patients with autism spectrum disorder (ASD), developmental delay, and schizophrenia.…

News of the Week

[August 26, 2022] News of the Week

Rare disease diagnostics & researchIn addition to the primary finding, which provides the results suitable for the purpose of the test, the results of the genetic…

News of the Week

[August 18, 2022] News of the Week

Rare disease diagnostics & researchIn the UK, children with developmental delays or intellectual disabilities are recommended to have an early Whole Exome or Whole Genome test.…

News of the Week

[August 11, 2022] News of the Week

Rare disease diagnostics & researchHealx's CEO wrote in Forbes that AI will play an important role in the discovery of rare disease drugs. Dr. Tim Guilliams…

News of the Week

[August 4, 2022] News of the Week

Rare disease diagnostics & researchResearchers have used a new imaging technique to differentiate retinal lesions caused by Vitelliform Macular Dystrophy(VMD) by genetic variants. Differences in…

News of the Week

[July 28, 2022] News of the Week

Rare disease diagnostics & researchThe American College of Physicians(ACP) has issued a position paper that physicians should consider the benefits and harms of genetic testing…

News of the Week

[July 22, 2022] News of the Week

Rare disease diagnostics & researchGenomics England researchers have published guidelines to aid in the interpretation of non-coding regions to improve the diagnostic rate of whole-genome sequencing-based…

News of the Week

[July 14, 2022] News of the Week

Rare disease diagnostics & researchJohns Hopkins researchers have published a study showing that a lack of diverse racial and ethnic data negatively impacts the treatment and…

Subscribe to our newletter

Get email updates on 3billion's announcements & updates, clinical cases, and rare disease information

Thank you for
subscribing 👏