Genetic Disorders

GeneDx launches exome sequencing access program for pediatric epilepsy patients
By LabPulse.com staff writers
Genetic testing firm GeneDx has launched a patient access program aimed at increasing access to exome sequencing for pediatric patients with epilepsy.
June 5, 2024
Dna Sequence Social
Backlog of unresolved medical diagnoses leads to new method for clinical exome reanalysis
By Liz Carey
The automated analysis improved the rate of accurate genetic diagnosis, doubling the number of solved cases as compared with benchmarked methods, across three distinct real-world cohorts, according to researchers.
May 16, 2024
Child Hospital Social
BioMarin confirms layoffs and R&D cuts
By LabPulse.com staff writers
Roctavian, BioMarin's gene therapy for severe hemophilia A, generated $800,000 in net product revenue in the first quarter of 2024.
May 15, 2024
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Invitae sells reproductive health assets to Natera
By LabPulse.com staff writers
Invitae on Monday has completed the sale of some of its reproductive health assets, including carrier screening and noninvasive prenatal screening, to Natera.
January 22, 2024
Business Men Handshake Social
First FDA-approved CRISPR-based gene therapy cleared for 2nd indication
By LabPulse.com staff writers
A month after the U.S. Food and Drug Administration (FDA) approved Vertex Pharmaceuticals’ and CRISPR Therapeutics’ Casgevy for the treatment of sickle cell disease, the agency has given it a second U.S. regulatory approval ahead of schedule.
January 17, 2024
Cell Gene Therapy Dna Social
Health Canada approves Pfizer’s hemophilia gene therapy
By LabPulse.com staff writers
Health Canada, Canada’s regulatory agency, has approved Pfizer's Beqvez (fidanacogene elaparvovec) as a gene therapy treatment for adults with moderately severe to severe hemophilia B.
January 3, 2024
Cell Gene Therapy Dna Social
Sanford to launch rural precision medicine program in Upper Midwest
By LabPulse.com staff writers
Sanford Health has announced a new genomics-based rural population health program in partnership with Helix.
December 15, 2023
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U.K. trial approved for Hunter syndrome gene therapy
By Matt Limb
U.K. regulators have approved the “first ever” trial of a revolutionary gene therapy for young children diagnosed with Hunter syndrome, a rare lysosomal storage disorder.
November 9, 2023
Gene Therapy Dna Scientist Social
Genomics England, Oxford Nanopore to collaborate on sequencing rare diseases
By Matt Limb
Genomics England and Oxford Nanopore Technologies have announced a strategic research partnership to resolve undiagnosed rare disease cases.
November 7, 2023
Cell Gene Therapy Dna Social
Oxford Nanopore partners with Fabric Genomics on assessment of genetic disease in children
By Nick Paul Taylor
Oxford Nanopore Technologies and Fabric Genomics have teamed up to provide a sequencing analysis platform for neonatal and pediatric intensive care units.
November 1, 2023
Child Hospital Social
PacBio, GeneDx team up to test if long-read sequencing improves pediatric diagnoses
By Nick Paul Taylor
In the study, GeneDx, a genetic testing company, will use PacBio’s Revio sequencing system to perform WGS and analysis of samples from 350 people and their biological parents.
August 10, 2023
Child Hospital Social
Whole genome sequencing finds genetic disorders missed by targeted test in babies
By Nick Paul Taylor
WGS found a genetic disorder in 49% of the patients, compared to a 27% detection rate for NewbornDx. Overall, a molecular diagnostic variant was found in 51% of participants; 134 of the 297 identified variants were novel.
July 14, 2023
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