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Home » Topics » Diagnostics » Genomics

Genomics
Genomics RSS Feed RSS

Awareness ribbon with zebra pattern
Genetic/Congenital

Rare diseases yield genomic secrets through new computational approach

March 20, 2023
By Anette Breindl
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
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Awareness ribbon with zebra pattern
Genetic/Congenital

Rare diseases yield genomic secrets through new computational approach

March 17, 2023
By Anette Breindl
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
Read More

Massive cell-free DNA trial for the detection of cancer completes enrollment

Aug. 9, 2022
By Nuala Moran
The largest study to date assessing the use of cell-free DNA (cfDNA) analysis to detect cancer in advance of symptoms has completed enrollment of 140,000 healthy volunteers. The study, being run in the U.K. National Health Service (NHS) by the charity Cancer Research UK (CRUK) and cfDNA diagnostics specialist Grail Inc., is using Grail’s Galleri test to look for cancer-specific methylation patterns in blood.
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Red blood cells

Long in the making changes lead to tipping point in blood stem cells

June 3, 2022
By Nuala Moran
Two studies published back to back in Nature have looked at the accumulation of mutations in blood-forming stem cells with age, gaining new insights into how the overall landscape of such cells changes across the lifespan. 
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DNA sequence and COVID-19 virus cells

Study finds variants that increase risk of severe COVID-19

March 7, 2022
By Nuala Moran
The world’s largest genomics study in patients with life-threatening COVID-19 infections has uncovered 16 new genetic variants associated with severe disease and drawn up a roadmap for research into new therapies and diagnostics. The research involved comparing the complete genome sequences of 7,491 patients admitted to 224 intensive care units in the U.K. against those of 48,400 participants in Genomics England’s 100,000 Genomes project, and of a further 1,630 people who had mild COVID-19. While some of the gene variants found in the Genomicc study affect the function of a protein, others influence the amount of the protein that is expressed. An example is mucin-1, where overexpression led to worse outcomes.
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Group photo of Biofidelity staff

Biofidelity attracts $23M series A investment to launch lung cancer test

Feb. 2, 2022
By Catherine Longworth
Cancer diagnostics company Biofidelity Ltd. reported a $23 million series A+ investment round, led by Octopus Ventures with participation from SBI Investment Co. Ltd. and existing investors. Funds will be used for the commercial launch of the company’s first commercial assay Asypre-Lung. The oncology panel is designed to detect DNA mutations from tissue or liquid biopsy quicker than current approaches like gene sequencing.
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Sema4 lab technician running COVID-19 samples

Sema4 signals commitment to bring genomics to clinical practice with $623M Genedx acquisition

Jan. 18, 2022
By Annette Boyle
Sema4 Holdings Corp. sent a bold message to the market with a definitive agreement to acquire Genedx Inc. from Opko Health Inc. for $623 million. The deal comes as Sema4 winds down its COVID-19 testing by the end of March. The company has been one of the largest testing organizations in Connecticut since its first contract in May 2020, but has lately come under scrutiny because of an investment by Annie Lamont, the governor’s wife.
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Patient using Predictix Genetics on tablet
A look back as we head into 2022

Top Med-tech Trends of 2021: Better therapy matching brings optimism to depression treatment

Dec. 21, 2021
By Annette Boyle
2021 may mark the beginning of a new phase in treatment of depression. While genetic matching of depression therapies to patients has been touted for a decade, meta-analyses have not supported claims of improved response rates with studies often finding that any improvements seen likely came from switching patients to guideline-recommended therapies rather than any insight from genetics.
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Color Health Inc.’s genomics kit.

Color valuation reaches $4.6B with vibrant $100M series E

Nov. 9, 2021
By Annette Boyle
Color Health Inc. followed its rainbow to another pot of gold, collecting $100 million in a series E financing round led by Kindred Ventures and funds advised by T. Rowe Price Associates Inc. Returning funding round participants also included General Catalyst, the company’s long-time lead investor, Viking Global Investors and Emerson Collective. With the latest cash infusion, the company’s total funds raised to date reached $378 million and its valuation of $4.6 billion propelled it into the top dozen health care unicorns. Founded in 2017 as Color Genomics, the Burlingame, Calif.-based company has raised more than two-thirds of its total funding this year with today’s series E following the close of a $167 million series D round in January.
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Cancer cells under magnifying glass

Berry Oncology shows promising data on early screening for six cancers

Oct. 18, 2021
By Doris Yu
Oncology genomic testing company Berry Oncology Corp.’s latest research results showed promising data for its Hifi platform-based technology, its CEO Jun Zhou said during the first International Biopharma Industry Week held in Shanghai. With the Hifi liquid biopsy test, users can receive early screening of six cancers, including liver cancer, lung cancer, gastric cancer, colorectal cancer, esophageal cancer, and pancreatic cancer, with an overall sensitivity of 87.6%, specificity of 99.1%, and overall tissue of origin precision in 82% of positive cancers.
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