Publications by authors named "Emily R Berry"
Article Synopsis
- Genome sequencing plays a critical role in diagnosing rare diseases, even when effective treatments are not available.
- The development of milasen, a customized drug for a specific patient, stemmed from the molecular diagnosis of a fatal neurodegenerative disease, leading to quick testing within a year.
- The study demonstrated that milasen was safe and effective, showing a reduction in seizures, and sets an example for creating personalized treatments rapidly for other patients.
Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.
Int J Pediatr Otorhinolaryngol
October 2012
Objective: To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.
Methods: 195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA). Subsequently, twenty-one patients with one SLC26A4 mutation detected by microarray were subjected to sequencing analysis of the whole SLC26A4 coding region and the splice sites in order to identify the second mutant allele.
Rickets and the decreased ossification associated with it can give rise to abnormally low bone density and weakened osseous structures. Despite this association, rickets has rarely been associated with osteochondral defects, and the imaging findings of this association have not been previously described on magnetic resonance (MR) imaging. This case report presents an adolescent male with a clinical history of rickets and recent-onset knee pain that was determined to be caused by bilateral osteochondritis dissecans.
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