NeoReactomicsReactomics in Newborn Screening
Conceptual 3D illustration of a metallic multiplexed plate, with many recessed wells containing small blood samples and varying violet and magenta fluorescence.

Pioneeringthe potential ofReactomicsin Newborn Screening

The patented technology enables the measurement of multiple enzymatic activities from a single dried blood spot punch, expanding the scope of reactomics.

With straightforward sample preparation and a fluorescence-based readout, this platform has the potential to support scalable functional assays for newborn screening, including both first-tier and second-tier testing.

A reaction becomes
a fluorescence signal

Validating reactomics
for newborn screening

During 2025 and 2026, we have been working to validate our technology through the MetabPlus program, focusing on a panel of 83 enzymes selected according to clinical criteria, including their association with severe pediatric disorders for which effective treatments are available.

83 / 83
  • ACADM
  • ACADVL
  • ACAT1
  • ADA
  • AGL
  • AGXT
  • AK2
  • AKR1D1
  • ALAS2
  • ALDH7A1
  • ALPL
  • APRT
  • ARG1
  • ARSA
  • BAAT
  • BTD
  • CAD
  • CBS
  • CHAT
  • COQ2
  • CPS1
  • CPT1A
  • CPT2
  • CTPS1
  • CYP11B1
  • CYP11B2
  • CYP17A1
  • CYP21A2
  • CYP27A1
  • DDC
  • DHFR
  • ENPP1
  • FAH
  • FBP1
  • G6PC1
  • GAA
  • GALC
  • GALK1
  • GALT
  • GAMT
  • GATM
  • GBA
  • GCDH
  • GCK
  • GFPT1
  • GLA
  • GLUD1
  • GRHPR
  • HADHA
  • HADHB
  • HK1
  • HMGCL
  • HMGCS2
  • HSD3B2
  • HSD3B7
  • IDS
  • IDUA
  • LIPA
  • LPL
  • MAN2B1
  • MMAB
  • MMUT
  • MPI
  • MTHFR
  • MTR
  • NAGS
  • NNT
  • OTC
  • OXCT1
  • PAH
  • PCCA
  • PGM1
  • PKLR
  • PMM2
  • PNP
  • PNPO
  • QDPR
  • SGPL1
  • SMPD1
  • TH
  • TPK1
  • TPP1
  • UGT1A1

The program combines experimental studies with neonatal and adult data to assess the platform’s analytical performance.

MetabPlus is a public–private collaboration between IBIMA Plataforma BIONAND and Reactomix, S.L., with participation from CSIC, the IBIMA Chemistry Platform, and the Eastern Andalusia Newborn Screening Laboratory at Hospital Materno Infantil de Málaga.

The program receives public funding from the Spanish Ministry of Science and the European Union.

IBIMA Plataforma BIONAND and Reactomix
Western Europe, with Málaga marked in southern Spain.
AI-enhanced archive aerial photograph of Hospital Materno Infantil de Málaga.
Hospital Materno Infantil de Málaga · Archive photograph · Enhanced

Building Evidence

Advancing towards a functional approach to complement metabolic and genomic newborn screening.

Laboratory with researchers, analytical instruments and views of Málaga

Prototype developed in liquid and dry formats

Designed to measure the activity of 83 enzymes selected for clinical relevance, using a single dried blood spot (DBS) punch and fluorescence detection.

In the liquid format, the complete workflow takes approximately 4 hours per plate, including a 90-minute incubation.

Supplied analytical results table comparing Neonatal 1X with Adult 1X, 2X and 4X. Green cells show the starred responses; other cells are marked ns.Explore the results ↗

Our findings

  • Neonatal samples at 1×: 80% of measured responses were above background.
  • Adult samples at 1×: 24 of 83 targets showed responses above background.
  • Extending incubation to 3 or 5 hours provided only limited improvement.
Two consecutive screening filters: many samples enter the first tier, two continue to the second tier, and one emerges.

Potential applications

First-tier newborn screening

Measuring multiple enzyme activities in a single assay.

Second-tier testing

Providing functional evidence to help interpret metabolic or genomic findings.

Moving Forward
NeoReact program
2027–2028

Continuing the MetabPlus program.

Retrospective validation: dried blood spots, a clinical record and a clock

Retrospective validation

Evaluating the assay using dried blood spot (DBS) samples from children with confirmed diagnoses.

A group of people representing the population-based pilot

Population-based pilot study

Planned analysis of 50,000 newborn samples, with comparison against next-generation sequencing (NGS) results.

Evaluating how well the test identifies affected newborns, how it fits into routine screening, and how much it costs per sample.

Stay connected with our team.

We would be pleased to share our research progress, discuss your questions and explore opportunities for collaboration.

Raquel Yahyaoui

Raquel Yahyaoui

Scientific Coordinator & Clinical Lead

Manuel Bernal

Manuel Bernal

Laboratory Scientific Lead

Alonso Molina

Alonso Molina

Liquid-format Lead

Joel Posligua

Joel Posligua

Solid-format Lead

Lucía Hurtado

Lucía Hurtado

Bioinformatics Lead

Baldomero López

Baldomero López

CEO, Reactomix S.L.

Collaborators

Manuel Ferrer — CSIC
José Juan Reina & team — IBIMA Chemistry Platform

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