Rare Disease: Page 2

Illumina introduces sequencing software for rare genetic diseases
By LabPulse.com staff writers
Its TruSight software offers infrastructure that enables sample-to-report analysis for genetic disease testing, allowing researchers to go from 5 million variants to a small handful in a rapid, scalable way, according to Illumina.
July 7, 2020
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Is whole genome sequencing for children with rare diseases worth the price?
By Leah Sherwood
WGS has been proposed as a possible shortcut out of the "diagnostic odyssey," the ordeal endured by patients with rare diseases as they undergo a seemingly endless series of clinical evaluations, imaging studies, and laboratory tests before obtaining a diagnosis.
June 29, 2020
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PerkinElmer, FDNA team up on AI-enhanced genetic testing
By LabPulse.com staff writers
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
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Invitae offers free genetic tests through pharma tie-ups
By LabPulse.com staff writers
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
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Study homes in on genetic risk for type 2 diabetes
By Emily Hayes
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
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New screening approach emerges for pediatric genetic diseases
By Emily Hayes
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
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Genomics England passes 1st liquid biopsy testing phase with industry partners
By LabPulse.com staff writers
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
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