Related Experiment Video
Updated: May 24, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective
Asheeta Gupta1,2,3,4,5, Kushani Jayasinghe6,7,8,9, Amar Majmundar10,11
1Dept. of Pediatric Nephrology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham , UK. asheeta.gupta@rch.org.au.
Global kidney genetic services are expanding, improving care for monogenic kidney diseases. Key considerations for establishing these services include education, cost, and equitable access.
Area of Science:
- Nephrology
- Genomics
- Medical Genetics
Background:
- Monogenic kidney diseases require specialized management.
- Global kidney genetic services are emerging to address these needs.
- Integration of genomics into nephrology is revolutionizing patient care.
Purpose of the Study:
- To explore global efforts in integrating genomics into nephrology.
- To discuss considerations for establishing kidney genetics services.
- To share insights from successful international implementations.
Main Methods:
- Review of global kidney genetics service initiatives.
- Analysis of case studies from Australia, India, the UK, and the US.
- Discussion of barriers and educational strategies for genomic literacy.
Main Results:
- Multidisciplinary kidney genetics clinics are effective diagnostic models.
- Educational strategies are being developed to bridge the genomic literacy gap.
- Collaboration between clinics and registries can foster research and optimize care.
Conclusions:
- Establishing kidney genetics services requires addressing barriers like cost and clinician education.
- Equitable access to genomics services is crucial for diverse populations.
- Upskilling the nephrology workforce is essential for leveraging genomic medicine advances.
More Related Videos
11:47Using 2-Photon Microscopy to Quantify the Effects of Chronic Unilateral Ureteral Obstruction on Glomerular Processes
Published on: March 4, 2022
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Related Concept Videos
Genomics
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Gene Therapy