Building Resources for Discovery and Treatment: the Insight-hd Biobanking Initiative for Pediatric Bone Marrow Failure and Myelodysplastic Syndromes
Year: 2025
Type: article
Study design: Study Protocol
Abstract: Background and Aims: Pediatric bone marrow failure (BMF) and myelodysplastic syndromes are rare blood disorders with limited therapeutic options and many patients lacking genetic diagnosis. We describe the INSIGHT-HD protocol, our local biobanking initiative designed to advance understanding of rare hematological diseases through specimen collection, clinical phenotyping, and resource development. This protocol enables discovery of novel disease genes, supports therapeutic development including iPSC-based gene editing approaches, and facilitates correlative studies.
Source: EJC Paediatric Oncology
Authors: Kelsey Ray, Jessica Uhrich, Andrea Kennedy, Tamanna Shamrin, Melvanique Hale, Michelle Boals, Nathan Gray, Alyssa Kennedy, Mitch Weiss, Marcin Wlodarski
Institution: St. Jude Children's Research Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,340
OpenAlex ID: W4415903273
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