Case Study – Bambino Gesù Children’s Hospital

Challenge

Rare & inherited disorders

Solution

SOPHiA DDM™ Nephropathies Solution

Country

Italy

Collaborating with the Bambino Gesù Children’s Hospital to develop the SOPHiA DDM™ Nephropathies Solution.

Dr. Antonio Novelli, Director of the Medical Genetics Laboratory, Bambino Gesù Children’s Hospital contributes to the design and development of the SOPHiA DDM™ Nephropathies Solution.

The Bambino Gesù Children’s Hospital is the largest pediatric hospital and research center in Europe with over 20 healthcare specialties across 10 pediatric departments.

The hospital’s Medical Genetics laboratory is actively involved in the diagnosis of rare pathologies and genetic diseases. In recent years, the lab has been dealing with the analysis of rare pediatric conditions across multiple specialties, supporting the best care for young patients. In particular, the Bambino Gesù Children’s Hospital is a national reference center for kidney diseases.

Challenge

The study of renal pathologies requires an analytical technology that can facilitate the assessment of genes with multiple highly homologous regions, such as PKD1, in which copy number variations (CNVs) are a possible pathogenetic mechanism in autosomal dominant polycystic kidney disease. To increase multiplexing capabilities and efficiency for the study of renal pathologies, the Medical Genetics laboratory at Bambino Gesù Children’s Hospital wanted to transition from long-range PCR and Sanger sequencing to next-generation sequencing with targeted bioinformatics.

Solution

“Together with the SOPHiA DDM™ Nephropathies Solution team we designed an integrated and accurate solution that allows us to fully analyze the genes associated with autosomal dominant polycystic kidney disease and other renal pathologies”, says Dr Antonio Novelli, Director of the Medical Genetics laboratory.

The jointly designed SOPHiA Nephropathies Solution targets 44 genes associated with the most prevalent hereditary nephrology disorders. The high-affinity probe design ensures a high on-target rate and coverage uniformity, and the advanced analytical performance of the SOPHiA DDM™ Platform confidently calls SNVs, Indels, and CNVs, and efficiently differentiates gene and pseudogene variants in PKD1.

“Our laboratory has a very intense and complex activity with hundreds of samples to be analyzed every day with various needs and with different processing and response times”, says Dr Antonio Novelli. “Even with this intense and varied laboratory activity, the SOPHiA GENETICS workflow integrates easily and quickly with a good customization of the experimental setting.”

Results

The Medical Genetics laboratory of the Bambino Gesù Children’s Hospital has successfully implemented this solution dedicated to kidney diseases. The laboratory uses the solution to process thousands of samples per year. “For a patient with kidney disease, obtaining a molecular diagnosis not only provides them with access to an adequate therapeutic and care path, but also allows their family to plan for the future with greater awareness”, says Dr Antonio Novelli.

“Through the SOPHiA DDM™ Nephropathies Solution and bioinformatic capabilities of the SOPHiA DDM™ Platform, we can process a large number of samples in a simple way and simultaneously identify both point mutations and deletions/duplications (CNVs) in all genes included in the panel to gain exhaustive insights.”

Dr. Antonio Novelli
Director of the Medical Genetics Laboratory
Bambino Gesù Children’s Hospital

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