New Mayo Clinic Technology Helps Solve the Unsolvable in Rare Disease Diagnoses
Mayo Clinic
While manual reanalysis takes weeks, the new technology took from 10 seconds to 1.5 hours to reanalyze each unresolved case
Genetic Mutation
Rapid Test of Cerebrospinal Fluid Decreases Time to Diagnosis for Brain Tumors
Mass General Brigham
The new rapid genotyping test for brain cancers eliminates the need for invasive biopsies, reducing time to diagnosis from 10 days to 2 days
New, Simple Test Detects Rare Fatal Genetic Heart Condition
McMaster University
The new test will allow clinicians to identify individuals at risk of a life-threatening genetic heart arrhythmia
Researchers Identify Important Gene in the Fight against Prostate Cancer
Aarhus University
A new study from Aarhus University finds that men with mutations in a particular gene are at greater risk of developing metastases after prostate cancer
Researchers Identify a New Genetic Form of Alzheimer's Disease
Sant Pau Research Institute
New findings suggest that having two copies of a specific gene could represent a new genetic form of Alzheimer's disease
Selective PARP Inhibitor Improves Survival in Breast Cancer Trial
American Association for Cancer Research
Saruparib has higher selectivity for PARP1, improving safety and tolerability compared to existing first-gen PARP inhibitors
FDA Approves First Nonsteroidal Drug for DMD
U.S. Food and Drug Administration
The FDA granted the approval of Duvyzat™ to Italfarmaco S.p.A
FDA Approves First Gene Therapy for Metachromatic Leukodystrophy
U.S. Food and Drug Administration
The FDA granted approval of Lenmeldy™ to Orchard Therapeutics
Identifying Gene–Disease Relationships in the Clinical Exome
Genomenon Inc.
The six-month study combined computational indexing of 9.5 million full-text genomic publications with a systematic literature review
New Gene Editing Tool Rapidly Screens Cancer Mutations
Massachusetts Institute of Technology
With the new technique, researchers hope to identify mutations that could be targeted with new cancer therapies