Human dark brown eyes close-up.  Side look

Genetically-Caused Blindness Reversed with Single Injection of Antisense Therapeutic

Almost a dozen antisense treatments have been approved by the FDA to date. Almost all of these are for orphan diseases, including the drug used in this study sepofarsen, which targets Leber congenital amaurosis (LCA), but is specifically designed for LCA patients with the CEP290 mutation.
Bladder Cancer

Genes Linked to Immunotherapy Resistance in Bladder Cancer Uncovered

A Mount Sinai research team has identified genotypes associated with sensitivity and resistance to cancer immunotherapy in patients with metastatic urothelial cancer of the bladder, as well a specific type of white blood cell that helps promote cancer-related inflammation in some people.
Medical vaccine

Study Will Assess Reasons for Allergic Reactions to Moderna, Pfizer/BioNTech COVID-19 Vaccines

A new NIH-funded Phase II study will assess if people who are already highly allergic, or have a mast cell disorder, are at increased risk of an immediate systemic reaction after being given either the Moderna or Pfizer/BioNtech COVID-19 mRNA vaccines.
Compassionate nursing care

Genome Sequencing Reveals Patterns of COVID-19 Spread in Elder Care Homes

The researchers conclude that isolating residents or staff when they develop symptoms is not sufficient to prevent within-care home spread once the virus has entered the care home. Certain measures may be required on an ongoing basis within care homes when there is sustained community transmission, even when no outbreak is suspected.
Seamless pattern of hand drawn faces of various ethnicities

Genetic Ancestry Testing Useful for Health Planning

The research team drew from Mount Sinai's BioMe BioBank program, a repository of genomic information for diverse populations, for its study. Using machine learning methodology, they identified 17 distinct ethnic communities from among the 30,000 participants in the BioMe BioBank.
Cancer cells under microscope

Machine-Learning Method to Detect Cancerous Cells Based on pH Has Liquid Biopsy Potential

The technique has potential to be used as a liquid biopsy where the tumor cells that had escaped the primary tumor could be detected and isolated from healthy cells via minimally invasive techniques that collect bodily fluid.

New Blood Test Developed for Depression and Bipolar Disorder

The RNA-based biomarkers test may ultimately lead to tailored medication choices for patients with depression—an area of significant need where most patients routinely cycle through a variety of treatments to find one with some efficacy.
Human heart

PRS Identifies People at Risk of Heart Disease Despite Normal Cholesterol

More than 10% of people with average LDL cholesterol levels have the same risk as people with hypercholesterolemia, according to results from a polygenic risk score developed by Italian health tech company Allelica.
DNA research concept DNA barcodes for biomedical research  mitochondrial DNA  Prostate cancer DNA test

8 Companion Diagnostic Developers Making a Mark

If companion diagnostics (CDx) were people, they would be old enough to drink. The first CDx won FDA approval in 1998, when Dako Denmark...

Biognosys, Siemens Healthineers Collaborate on Diagnostic Biomarker Development

Under the agreement, Biognosys will leverage its biomarker discovery technologies in conjunction with Siemens’ biomarker assay development, lab testing, and commercialization infrastructure to discover novel biomarkers followed by translation of the biomarkers into validated assays for potential clinical applications.
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