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Genetic Disorders

Rady Children’s and Takeda Partner to Develop Treatments for Rare Genetic...

Genetic Disorders

Variants in SPTBN1 Associated with Neurodevelopmental Disorder

NGS technology has enabled researchers to epidemiologically analyze DNA sequences by quickly deciphering mass quantities of genetic information in a short amount of time. [Heart illustration: iStock/SvetaP DNA double helix: iStock/Kagenmi]
Genetic Disorders

Study Supports Link Between SORBS2 and Congenital Heart Disease

Sickle cell anemia
Genetic Disorders

Base Editor Effectively Treats Sickle-Cell Disease in Mice

Neurons sending pulsating electric impulses and communicating with each other. Concept For Neurological Diseases, Tumors And Brain Surgery
Genetic Disorders

Next Steps for Huntington’s Therapeutics Field After Roche, Wave Failures

Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect Genome-Phenome Analysis Platform. The platform is located at the Centro Nacional de Análisis Genómico - Centre for Genomic Regulation facilities in the Parc Cientific de Barcelona
Genetic Disorders

International Data Sharing Project Aims to Improve Rare Disease Diagnostics

Illustration of a damaged ribonucleic acid or dna strand
Genetic Disorders

Natural Suppressor Mutations May Help Protect Us from Genetic Disorders

Organ of Corti, SEM - Cochlea cells - inner ear
Genetic Disorders

Gene Associated with Severe Hearing Loss Uncovered

Genetic Disorders

Molecular Cell Catalog Could Improve Treatment for Cystic Fibrosis Patients

Results from a new study show the validity of using CSF as a medium for finding ctDNA to detect brain tumors. [Jonathan Bailey
Genetic Disorders

Oncogene Linked to Worsening of Blood Vessel Malformations in Brain

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