We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Events

09 Apr 2024 - 12 Apr 2024
15 Apr 2024 - 17 Apr 2024
23 Apr 2024 - 26 Apr 2024

Next Generation Sequencing Reveals Genetic Basis for Congenital Cataracts

By LabMedica International staff writers
Posted on 01 Sep 2014
Print article
Applying the latest high-throughput, next-generation DNA sequencing technology has enabled researchers in the United Kingdom to diagnose children with rare diseases that are characterized by the formation of congenital cataracts.

Diagnosing which of the more than 100 diseases that cause between 20,000 and 40,000 cases of congenital cataracts each year is often a lengthy, costly, and inconclusive process based on numerous clinical assessments and a detailed family history.

Investigators at the University of Manchester (United Kingdom) decided to modernize this process by adapting the latest high-throughput DNA sequencing technology, which is capable of simultaneously scanning for mutations in all the 115 known congenital cataracts genes.

To verify this approach, the investigators evaluated samples from 36 patients and a known positive control. They were able to determine the precise genetic cause of congenital cataracts in 75% of individuals. Among the patient group, 85% were found to have likely pathogenic mutations, all of which occurred in highly conserved domains known to be vital for normal protein function. In one case, results of DNA sequencing aided in diagnosing a patient with Warburg Micro syndrome, an extremely rare disease that is marked by an abnormally small head and the development of severe epilepsy, among other medical issues.

"There are many diseases that involve congenital cataracts but finding the exact reason was always difficult," said contributing author Dr. Graeme Black, professor of genetics and ophthalmology at the University of Manchester. "Even with a family history, diagnosing these rare diseases was always a bit of a shot in the dark."

The DNA-based test, which was described in the August 19, 2014, online edition of the journal Ophthalmology, was certified for diagnostic use by the United Kingdom's National Health Service in December 2013.

Related Links:

University of Manchester

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
One Step HbA1c Measuring System
GREENCARE A1c
Complement 3 (C3) Test
GPP-100 C3 Kit
Gold Member
Xylazine Immunoassay Test
Xylazine ELISA

Print article

Channels

Clinical Chemistry

view channel
Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)

POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection

Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more

Hematology

view channel
Image: The low-cost portable device rapidly identifies chemotherapy patients at risk of sepsis (Photo courtesy of 52North Health)

POC Finger-Prick Blood Test Determines Risk of Neutropenic Sepsis in Patients Undergoing Chemotherapy

Neutropenia, a decrease in neutrophils (a type of white blood cell crucial for fighting infections), is a frequent side effect of certain cancer treatments. This condition elevates the risk of infections,... Read more

Pathology

view channel
Image: The medical office procedure detects the key biomarker in Parkinson’s and related neurodegenerative diseases (Photo courtesy of BIDMC)

Simple Skin Biopsy Test Detects Parkinson’s and Related Neurodegenerative Diseases

Parkinson's disease and a group of related neurodegenerative disorders known as synucleinopathies impact millions globally. These conditions, including Parkinson’s disease (PD), dementia with Lewy bodies... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.