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 by Reactomix allows to measure many enzyme reactions from a single dried blood sample punch, expanding the possibilities in Reactomics.

This technology has the potential to become a scalable, functional assay for newborn screening. Simple preparation and a fluorescence readout make it a potential tool for first-tier and second-tier tests.

A reaction becomes
a fluorescence signal

Validating Reactomics
for newborn screening

The panel comprises 83 substrates selected strictly on clinical criteria, linked to severe pediatric disorders for which effective treatments are available.

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

This work is being carried out through the MetaBPlus project with analytical validation using neonatal and adult data alongside experiments.

This public-private collaboration brings together IBIMA Plataforma BIONAND and Reactomix, S.L., with CSIC, the IBIMA Chemistry Platform and the Eastern Andalusia Newborn Screening Laboratory at Hospital Materno Infantil de Málaga. The project receives public funding from the Spanish Ministry of Science and the European Union.

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

Delivering Results

Advancing Towards a Functional Complement to Metabolic and Genomic Newborn Screening

Laboratory with researchers, analytical instruments and views of Málaga

Prototype developed

83 clinically selected substrates
One DBS punch, fluorescence readout
Liquid: 90-min incubation, ~4 h per plate
Solid: printing and scanning explored

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 ↗

Key analytical findings

Neonatal 1X: 80% responses above background
Adult 1X: 24/83
2X/4X added no targets
3 h/5 h incubation gave few gains

Conceptual multiplexed sample plate with fluorescent signals

Potential roles in NBS

First tier

Multiplex screening of enzyme activity

Second tier

Functional evidence to investigate metabolic or genomic findings

Moving Forward:
NeoReact 2027 & 2028

Retrospective Validation

DBS samples from children with confirmed diagnoses

Population Based Pilot

50,000 newborn samples

NGS gold standard

Assess clinical performance, workflow and costs

Would you like to stay informed and keep in touch?

Programs, pharmaceutical companies and laboratories exploring broader coverage of diseases included in or related to the RUSP.
Clinical and scientific teams interested in a second functional layer to assess screening, metabolomic or genomic findings.