Rare Disease

Illumina NGS software to enable tertiary analysis for oncology, rare disease
The software streamlines interpretation and reporting from a range of assay types. It enables labs to scale up the use of NGS and reduce turnaround time of clinical reporting through integration of third-party knowledge bases.
March 27, 2023
Rare Diseases Keyboard Social
Bionano announces study findings for optical genome mapping of rare reproductive system disorder
MRKH results in the absence or underdevelopment of female reproductive organs; a secondary type of the disorder is also associated with skeletal, auditory, and cardiac valve abnormalities.
March 22, 2023
Dna Genome Gene Targeted Social
Genetic causes identified for three rare diseases
A computational approach helped identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness.
March 16, 2023
Rare Diseases Keyboard Social
DNA tests show that mystery inflammatory syndrome may not be so rare
Physicians need to add VEXAS syndrome to the list of potential diagnoses when they see patients with persistent and unexplained inflammation and low blood cell counts, or anemia, the lead investigator of a new study said.
January 24, 2023
Rare Diseases Keyboard Social
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
Genomic Analysis
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
2019 04 03 00 43 4401 Dna Strand2 400
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
2022 07 13 19 56 4243 3 D Monkeypox Infecting Cell 400
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
2022 07 28 20 36 5779 Gene Therapy Dna Scientist 400
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
2021 01 08 22 20 9120 Cancer Cell Target2 400
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
2021 11 10 18 26 8156 Science Genome Sequence Dna Map 400
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
2021 01 27 00 33 2291 Genome Sequence Barcode 400
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
2020 01 16 22 39 3973 Dna Sequencing Genome 400
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