We're reflecting on meaningful progress in genomics and early diagnosis, alongside practical tools to support clinical practice
Advances in Genomics Generation Study in the UK Reports Early Diagnosis of Rare Eye Cancer Through Newborn Sequencing
Genomics England shared an update from the Generation Study, where whole genome sequencing at birth enabled the early diagnosis of hereditary retinoblastoma in a newborn with no known family history. The study aims to sequence up to 100,000 newborns and screen for 200+ rare genetic conditions, supported by Revvity Omics genomics laboratory contributing through sample processing within the program. To date, more than 20,000 families have enrolled, with over 60 condition-suspected results returned for confirmatory testing.
Stem Cell Research Umbilical Cord-Derived Stem Cells and Cerebral Palsy
A 2025 systematic review in Orphanet Journal of Rare Diseases examined 7 clinical studies exploring umbilical cord–derived stem cell treatments for cerebral palsy. The review reported no major safety concerns, with significant motor function improvements observed in some participants. While further research is needed to determine optimal treatment protocols, the findings highlight the potential role of these therapies in cerebral palsy care.
Catch the replay of "Genomics in Practice: From Testing to Talking with Patients." The session analyzes a real patient case, reviews available tests across the care journey, discusses how to introduce genomics to patients and when to involve a genetic counselor, ending by a Q&A.
Education ViaCord Collection Kit Tutorial | Professional Guide for HCPs
This educational video outlines key considerations for stem cell collection, including approaches to support optimal collection volume, reduce contamination risk, and promote a positive experience for patients and families. It is designed to support both new and experienced providers.
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Disclaimer: Banking cord blood does not guarantee that treatment will work, and only a doctor can determine when it can be used. This is intended for educational purposes only and should not be used or interpreted as information on treatments or diagnoses. Cord tissue stem cells have not been used in treatment yet. Research is ongoing. The content shall not be used to make a diagnosis or to replace or overrule a health care provider’s judgement. Always consult with a qualified and licensed physician or other medical care provider.
