Research & Development
Dante Genomics reveals Digital Health Population Genomics Programs at U.N. summit
The first two genomic programs will launch in October. The first will test for rare diseases; the second will focus on disease prevention for healthy individuals.
October 5, 2022
Dante Genomics, TMA Precision Health partner on WGS
Under the agreement, Dante will provide 30X whole genome sequencing, clinical interpretation, and personalized reports to the 3.5 million people in TMA's patient network. TMA will leverage the partnership to develop precision medicine solutions for patients with rare diseases.
September 7, 2022
Fulgent launches PCR test to detect monkeypox
Fulgent, a genetic testing company focused on patient care in oncology, infectious and rare diseases, and reproductive health, will begin accepting specimens for testing next week.
August 3, 2022
Guardian Research, ThinkGenetic partner on rare diseases
The collaboration utilizes the existing healthcare data science and clinical expertise of GRN and ThinkGenetic's experience in electronic health record (EHR) algorithm development. Together, the collaboration will promote accurate diagnosis and healthcare provider support integrating rare genetic conditions into their practices.
July 27, 2022
DiaCarta, NCI to work on cancer detection technology
Under a two-year Cooperative Research and Development Agreement (CRADA), the organizations will work on investigating low-frequency mutation events in cancers and rare diseases using DiaCarta's technology, as well as develop xenonucleic acid probes for in situ cancer cell detection.
January 6, 2022
Whole-genome sequencing aids diagnosis of rare diseases
In a pilot study, the genes of nearly 5,000 people with rare, undiagnosed diseases were analyzed by researchers from Genomics England and Queen Mary University of London partnered with the National Institute for Health Research BioResource. The group claimed the project was the first to analyze the diagnostic and clinical effect of whole-genome sequencing for a wide range of rare diseases within a national healthcare system -- in this instance, the U.K. National Health Service (NHS).
November 10, 2021
DNA forensic evidence frees Ohio man of rape, attempted rape
Chembio Diagnostics applies for FDA CLIA waiver for HIV, syphilis test
Dr. Fauci invokes Yogi Berra to describe emerging infectious disease challenge
AnchorDx enrolling U.S. clinical trial for bladder cancer assay
Thermo Fisher Scientific updates Applied Biosystems genetic analyzers to comply with IVDR
Week in Review: Elizabeth Holmes sentenced; good cholesterol worse for some adults; earlier type 2 diabetes diagnosis; and more
Illumina partners with German university on genome sequencing
The collaboration is taking place under the auspices of the Ge-Med Project, which stems from a two-year feasibility study that found WGS provided improved diagnosis across a range of rare diseases. Illumina will support the Ge-Med Project with sequencing, analysis, and health economic expertise.
February 18, 2021
Illumina introduces sequencing software for rare genetic diseases
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
Is whole genome sequencing for children with rare diseases worth the price?
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
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
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