Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Download Mobile App




New Genomic Method Helps Diagnose Patients with Unexplained Kidney Disease

By LabMedica International staff writers
Posted on 26 Mar 2024

Kidney failure poses a significant threat to life if not adequately treated, yet precise diagnosis often eludes patients, leaving them uncertain about the best treatment approach. More...

Now, a groundbreaking advancement by scientists has led to the discovery of a new technique for examining genomic data that could offer an accurate diagnosis for those suffering from unexplained kidney failure.

Researchers from Newcastle University (Newcastle upon Tyne, UK) used data from the Genomics England 100,000 Genomes Project to establish a diagnosis for patients facing unexplained kidney failure. They discovered that certain segments of these patients' genomes were absent, as a result of which their conditions went undiagnosed with standard genetic analysis techniques. The researchers have now identified this missing gene and found the mutations within it, allowing them to classify this as NPHP1-related -related kidney failure.

For their study, the team reviewed the genetic sequencing data of 959 individuals with advanced kidney disease. They identified 11 patients with a deleted region genome, resulting in the total loss of a specific kidney gene, a factor that had previously gone unnoticed. This novel method was further applied to analyze the genomic data of 11,754 individuals, enabling the genetic diagnoses of 10 UK patients with unexplained deafness and blindness, conditions that had remained genetically unexplainable until now. The Newcastle team is extending their research to patient-derived cell lines to delve deeper into the disease process and explore potential therapeutic options.

“Our new genomic methods and their results has huge implications for the patients and families with kidney failure who were previously genetically unsolved,” said Professor John Sayer, Deputy Dean of Biosciences at Newcastle University. “What we are now able to do is give some patients a precise diagnosis, which allows their investigations, treatment and management to be tailored to their needs for the best possible outcomes.”

Related Links:
Newcastle University


Gold Member
Antipsychotic TDM Assays
Saladax Antipsychotic Assays
Collection and Transport System
PurSafe Plus®
Gold Member
Hematology Analyzer
Medonic M32B
Clinical Chemistry System
P780
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Hematology

view channel
Image: New evidence shows viscoelastic testing can improve assessment of blood clotting during postpartum hemorrhage (Photo courtesy of 123RF)

Viscoelastic Testing Could Improve Treatment of Maternal Hemorrhage

Postpartum hemorrhage, severe bleeding after childbirth, remains one of the leading causes of maternal mortality worldwide, yet many of these deaths are preventable. Standard care can be hindered by delays... Read more

Immunology

view channel
Image: When assessing the same lung biopsy sample, research shows that only 18% of pathologists will agree on a TCMR diagnosis (Photo courtesy of Thermo Fisher)

Molecular Microscope Diagnostic System Assesses Lung Transplant Rejection

Lung transplant recipients face a significant risk of rejection and often require routine biopsies to monitor graft health, yet assessing the same biopsy sample can be highly inconsistent among pathologists.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.