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 hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Semi-Automated System Rapidly Identifies Pathogenic Genetic Variant Causing Rare Diseases

By LabMedica International staff writers
Posted on 27 Jun 2024

Many patients with rare diseases (50-75%) do not receive a diagnosis after genomic sequencing, often due to insufficient information on the variants identified. More...

Reassessing data over time with new genetic insights can improve diagnostic rates. However, reanalyzing genetic data in clinical laboratories is often hampered by time and resource limitations. Now, a novel semi-automated system enables rapid reanalysis of unresolved rare disease cases by regularly comparing patient genomic data with the latest global research findings, aiming to identify elusive disease-causing genetic variants.

Developed by Mayo Clinic researchers in 2022 (Rochester, MN, USA), the system, named RENEW (REanalysis of NEgative Whole-exome/genome data), incorporates an advanced filtering system that scans new genetic data to identify the variants responsible for a patient’s condition. A recent study demonstrated RENEW’s effectiveness, providing likely diagnoses for 63 out of 1,066 previously undiagnosed cases. RENEW can review each of the 5,741 prioritized genomic variants in about 20 seconds on average, with the complete analysis per patient taking between 10 seconds to 1.5 hours. This contrasts sharply with the weeks often required for manual reanalysis, which involves detailed scrutiny of literature and patient records by researchers and clinicians.

"Considering that the majority of patients with rare diseases who undergo genomic sequencing remain without a diagnosis, this is no small accomplishment," said Alejandro Ferrer, Ph.D., a translational omics researcher at the center and lead author of the study recently published in Human Genetics. "Each successful diagnosis facilitated by RENEW signifies a profound breakthrough in providing answers and hope to people navigating the complexities of rare diseases."

Related Links:
Mayo Clinic


New
Gold Member
Hematology Analyzer
Medonic M32B
Serological Pipet Controller
PIPETBOY GENIUS
New
Gel Cards
DG Gel Cards
New
Gold Member
Hematology System
Medonic M16C
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








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: The microfluidic device for passive separation of platelet-rich plasma from whole blood (Photo courtesy of University of the Basque Country)

Portable and Disposable Device Obtains Platelet-Rich Plasma Without Complex Equipment

Platelet-rich plasma (PRP) plays a crucial role in regenerative medicine due to its ability to accelerate healing and repair tissue. However, obtaining PRP traditionally requires expensive centrifugation... Read more

Immunology

view channel
Image: The 3D paper-based analytical device has shown high clinical accuracy for adult-onset immunodeficiency (Photo courtesy of National Taiwan University)

Paper-Based Device Accurately Detects Immune Defects in 10 Minutes

Patients with hidden immune defects are especially vulnerable to severe and persistent infections, often due to autoantibodies that block interferon-gamma (IFN-γ), a key molecule in immune defense.... Read more

Pathology

view channel
Image: Researchers have developed a novel method to analyze tumor growth rates (Photo courtesy of Adobe Stock)

Novel Method To Analyze Tumor Growth Rates Helps Tracks Progression Between Diagnosis and Surgery

Patients diagnosed with breast cancer often worry about how quickly their tumors grow while they wait for surgery, and whether delays in treatment might allow the disease to spread beyond the point of cure.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.