Explore the scientific evidence supporting beta cell biology, metabolic disease interception, liquid biopsy, and molecular diagnostics. This library includes KiHealth publications alongside foundational peer-reviewed research from leading academic institutions around the world.
KiHealth Labs is actively building its publication portfolio. The manuscripts, white papers, and abstracts below are in preparation and will be released as the underlying clinical and analytical work reaches publication milestones.
Prospective clinical validation of a plasma assay measuring unmethylated INS-promoter cfDNA as a specific molecular signal of beta cell death in at-risk and newly diagnosed diabetes cohorts.
Assay design, ddPCR chemistry, analytical performance, and early clinical validation of BetaDx™ — KiHealth's blood-based measure of beta cell integrity and stress.
Longitudinal analysis showing rise in beta-cell-derived cfDNA signal months before detectable changes in HbA1c, fasting glucose, or C-peptide in high-risk metabolic cohorts.
Platform architecture describing how Intercept IQ™ combines multi-analyte cfDNA readouts with longitudinal biomarker modeling to support earlier, interception-grade clinical decisions.
A curated library of foundational studies from Nature, Cell, Science, NEJM, Diabetes, JCI, PNAS, and other leading journals — the scientific record underlying KiHealth Labs' work in beta cell biology, cfDNA, and precision diagnostics.
IDF Diabetes Atlas 10th edition — global diabetes prevalence figures widely cited across the metabolic disease literature.
CCGA study establishing methylation-based multi-cancer detection — a defining reference for scalable cfDNA methylation screening.
Continuous multi-omic monitoring uncovering biological rhythms — methodological precedent for longitudinal cfDNA surveillance.
TrialNet study showing that a single course of teplizumab delayed clinical T1D onset by ~2 years — a landmark for disease interception.
DELFI framework demonstrating disease-specific fragmentation patterns in cfDNA — a template widely referenced in cfDNA precision diagnostics.
Widely cited review of deep learning applications in clinical medicine — provides the framing for AI-enabled precision diagnostics.
Demonstrated the value of longitudinal multi-omic monitoring for detecting sub-clinical disease transitions — directly informs interception-grade biomarker strategy.
Established genome-wide cfDNA methylation profiling as a sensitive approach to tissue-of-origin inference — technology principles broadly applied to non-oncology interception.
Demonstrated that short cfDNA fragments preferentially carry tumor signal — key evidence supporting size-selective liquid biopsy approaches.
Defining review of liquid biopsy technology and clinical translation — foundational framework used broadly in cfDNA-based diagnostics.
Framework paper on the convergence of molecular diagnostics, longitudinal monitoring, and analytics — the intellectual foundation for disease interception.
Landmark demonstration that tissue-specific methylation signatures in cfDNA can identify the cellular origin of cell death, including β-cells, hepatocytes, brain, and pancreatic exocrine tissue.
Foundational fragmentomics work showing that cfDNA fragment length distributions carry tissue- and disease-of-origin information.
Defined functional β-cell subpopulations within adult human islets — foundational for interpreting molecular signals of β-cell health.
Landmark single-cell atlas of the human endocrine pancreas across T2D — a reference resource for β-cell biology and biomarker development.
Single-cell RNA-seq of human islets identifying T2D-associated transcriptional changes — key reference for β-cell stress biology.
Demonstrated elevated unmethylated INS DNA in plasma at diagnosis of T1D and its decline over the first year, validating cfDNA methylation as a β-cell death biomarker.
Showed that β-cell-derived cfDNA rises in autoantibody-positive at-risk individuals before clinical onset of T1D, supporting the disease interception paradigm.
Definitive Nature primer on T2D pathophysiology, integrating β-cell failure with insulin resistance and multi-organ dysfunction.
Established the 3-stage model of presymptomatic T1D used to define clinical interception windows.
Landmark policy paper defining the precision medicine agenda, now foundational to biomarker-driven early detection.
Established a droplet digital PCR (ddPCR) assay for demethylated INS cfDNA — the technical foundation for high-sensitivity blood-based β-cell death monitoring.
ADA/EASD consensus report on β-cell failure mechanisms in T2D and priorities for prevention — a canonical citation in metabolic disease interception.
Highly cited work on transcription factor control of islet cell identity, relevant to β-cell regeneration strategies.
Combined analysis of >13,000 children showing that seroconversion to multiple islet autoantibodies predicts near-inevitable progression to T1D — the risk-stratification foundation used by KiHealth's T1D program.
Head-to-head demonstration of ddPCR's precision advantage over qPCR for rare-event detection — directly relevant to β-cell cfDNA assays.
Demonstrated that β-cell dedifferentiation — not just death — underlies loss of insulin secretion in diabetes, reshaping models of β-cell decline.
Widely cited synthesis of T1D natural history and the multi-stage disease model that underlies modern interception research.
Duplex sequencing — one of the technical breakthroughs enabling ultra-sensitive detection of rare cfDNA variants.
Demonstrated genome-wide fetal profiling from maternal plasma cfDNA — a defining early success of clinical liquid biopsy.
First demonstration that methylation-specific PCR of circulating insulin DNA can quantify β-cell death in vivo, establishing the molecular basis for INS cfDNA assays.
Defining review of the UPR — a central pathway in β-cell stress responses relevant to both T1D and T2D pathogenesis.
Original ddPCR platform paper — the technical basis for high-sensitivity absolute quantification used in cfDNA assays including demethylated INS DNA.
Comprehensive review of INS mutations, β-cell stress, and their contribution to monogenic and complex diabetes phenotypes.
Early proof-of-concept that circulating tumor DNA can be measured dynamically — a paradigm that generalized to cfDNA in metabolic disease.
Long-term evidence for the durable benefit of early glycemic control — reinforcing the value of earlier detection windows.
Foundational comparative analysis of β-cell death mechanisms across T1D and T2D — cited across the disease interception literature.
The Diabetes Prevention Program — the defining evidence that T2D can be prevented, and the clinical rationale for earlier biomarker-driven interception.
Finnish Diabetes Prevention Study — foundational evidence for prevention in high-risk individuals identified by early biomarkers.
