Research & Development
Rare Disease: Page 2
PerkinElmer, FDNA team up on AI-enhanced genetic testing
The plan is to marry NGP, which enables the collection and rapid analysis of phenotypic and genotypic data -- including facial analysis -- for use in genomic profiling, with PerkinElmer's testing and laboratory services. PerkinElmer Genomics has two CLIA labs in the U.S., with services including newborn screening and biochemical profiling, as well as integrated labs in India, Malaysia, and China. The lab network focuses heavily on newborn screening and the detection of rare genetic diseases.
June 24, 2019
Invitae offers free genetic tests through pharma tie-ups
The deal with Spark involves the launch of a new testing program called ID Your IRD, for the testing of approximately 250 genes associated with inherited retinal diseases (IRDs), which are rare, progressive eye disorders that carry a risk for vision loss or blindness. The U.S. approval of Spark's voretigene neparvovec-rzyl (Luxturna) in December 2017 for treating confirmed biallelic RPE65 mutation-associated retinal disease was groundbreaking as it marked a first for a gene therapy. Sponsorship of testing promises to boost the reach of Spark's treatment for a small patient population. The new program, which is available through referral by physicians, includes no-charge testing and consultations with genetic counselors.
June 11, 2019
Study homes in on genetic risk for type 2 diabetes
The results, which are publicly available on the Type 2 Diabetes Knowledge Portal, could be helpful for guiding drug development for type 2 diabetes in the future, and the finding of rare variations with an effect on disease might also apply to other complex conditions, the authors suggested.
May 21, 2019
New screening approach emerges for pediatric genetic diseases
Researchers at the Children's Medical Center Research Institute at the University of Texas (UT) Southwestern Medical Center reported on the usefulness of DNA testing and a chemical analysis called metabolomics for identifying mutant genes behind defective metabolic pathways in children with rare diseases.
April 30, 2019
Genomics England passes 1st liquid biopsy testing phase with industry partners
Genomics England is part of the 100,000 Genomes Project, which is aimed at sequencing 100,000 whole genomes from patients in the National Health Service (NHS) of England with cancers and rare diseases.
April 16, 2019
Quest launches long-COVID testing panels for consumers
Ohio, Kentucky doctors convicted in scheme to bill Medicaid for millions of dollars in unnecessary urinalysis testing
RNA-seq analysis links protein to spread of pancreatic cancer, reveals potential drug target
LumiraDx Q4 revenues drop 65% on lower COVID-19 testing
Patients prefer immediate test results, even when the news is bad
Point-of-care test developer Proxim Diagnostics obtains strategic investment from BioMérieux
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