The Molecular Breakthroughs in mRNA Biology and Pharmacology that Paved Progress to Develop Effective mRNA Vaccines Against COVID-19.

The Nobel Prize in Physiology or Medicine for 2023 awarded to Dr. Katalin Karikó and Dr. Drew Weissman recognized their seminal discoveries in nucleoside modifications of messenger RNA that were pivotal to developing the first mRNA vaccines for clinical use in humans.

FLT3 Gene Involvement in B-cell Acute Lymphoblastic Leukemia (B-ALL).

A recent landmark study reported the value of next-generation sequencing (NGS) to uncover pathogenic abnormalities of clinical significance in patients with pediatric B-ALL enrolled in the UKALL2003 clinical trial (Schwab et al., 2023). NGS, as whole genome sequencing (WGS) or targeted NGS (t-NGS), was combined with previous data (cytogenetics, FISH and MLPA) from 351 pediatric patients with precursor B-ALL who lacked a defining genetic abnormality (B-other ALL).

The Groundbreaking Validation of Whole Genome Sequencing (WGS) for a Comprehensive Genetic Profiling of Childhood B-cell ALL.

A new study demonstrated the power of WGS to comprehensively and accurately profile the genetic abnormalities in cases of childhood B-ALL that were previously studied with standard cytogenetics, FISH and MLPA (Ryan et al., 2023). Two cohorts with a total of 210 patients were studied.

The Confirmatory Diagnostic Value of Whole Genome Sequencing (WGS) as a Standalone Test for Childhood B-cell ALL: The Results of a NOPHO Trials Cohort.

The latest study with whole genome sequencing (WGS) in pediatric B-ALL validated its use as a standalone test to detect underlying clinically significant genetic abnormalities (Rezayee et al., 2023). This was a retrospective molecular survey in bone marrows previously collected and stored from 88 patients who were enrolled in NOPHO trials.