News

AddToAny

Google+ Facebook Twitter Twitter

Nanopore sequencing for rare genetic disorders

Using nanopore sequencing investigators can accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing.

This sequencing is a third-generation scalable technology that enables direct, real-time analysis of long DNA or RNA fragments.

Among a wide range of possible applications, it has proven effective in identifying copy number variants (CNVs). These are additional or missing copies of genetic material within chromosomes, and they underlie many neurological, psychiatric, and malformation disorders. Routinely, CNVs are investigated through cytogenomic techniques with significant limitations in terms of resolution and turnaround times.

Lead investigator Alberto Magi said: “Conventional cytogenetics and chromosomal microarray analysis are still the gold standard for the detection of large and small CNVs, respectively, and second-generation sequencing, developed for different genetic alterations, has been adapted to identify CNVs. But because they are slow, expensive and often inconclusive, patients are given sequential genetic tests until the underlying genetic cause is finally identified."

bit.ly/3OrVE1z

Image credit | Shutterstock

Related Articles

CRISPR-Cas9 gene editing complex, illustration.Image credit - Science-Photo-Library-f0248864

Activating genes using CRISPR technology

There are over 7000 different rare genetic diseases, and often it can be a significant challenge and take a long time to receive a correct diagnosis.

Blue helix human DNA structure-Image credit-shutterstock-1669326868

The search for genes that cause diseases

A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease.

pathogenspreadhr-CREDIT-spooky-pooka

Figuring out the threats: Problem-solving with genomics

As the COVID-19 enquiry continues to unpick the tangled threads of the pandemic response, little has been said about one of the most effective weapons against the SARS-Cov-2 virus – pathogen genomics.

breast cancer cells - CREDIT - Science Photo Library-c0559159

Breast cancer cells’ self-sacrifice is potential cause of relapse

For patients with early-stage breast cancer, there is a 7% to 11% chance of relapse within five years after receiving initial treatment.

Top