MRC Holland Visiting Scientist to Present on Newborn Screening at International Conferences
An MRC Holland researcher, PhD candidate Terence Diane Fabella, is set to present her work on the development of digitalMLPA assays for newborn screening at three international conferences later this year.
Currently in the final year of her PhD, Terence is working on a collaborative project between the University of the Philippines, the Amsterdam University Medical Centre, and MRC Holland.
"I have been working on projects about thalassemias since 2009 – I got involved with newborn screening when testing for thalassemias was added to the newborn screening program in the Philippines back in 2015", Terence explains.
Since then, her focus has expanded to include additional disorders. Together with the MRC Holland Research Team, she is developing NGS-based digitalMLPA panels that may one day be adopted by national newborn screening programs – both globally and in the Philippines.
At the ICoNS'25 Conference in London (UK) in October, Terence will present results from two digitalMLPA assays currently in development that use crude DNA extracts as input. The assays were tested on dried blood spot (DBS) cards from apparently healthy Filipino newborns to evaluate their suitability as potential first-tier or NGS-complementary tests for newborn conditions.
At the 15th Asia-Pacific Conference of Human Genetics 2025 in Yogyakarta (Indonesia) in November, Terence will talk about a second project that aims to evaluate the suitability of digitalMLPA for confirmatory testing for the three most commonly screened newborn conditions in the Philippines: Hemoglobinopathies, Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, and Congenital Adrenal Hyperplasia (CAH). Terence will also present a poster and give a poster pitch on the same topic at the 2025 APHL Newborn Screening Symposium in Rhode Island (USA) in October.
Don't miss the opportunity to hear about these interesting developments towards fast and affordable newborn screening assays if you are attending any of these conferences!
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