Mendelian

What Mendelian does

Mendelian is a London-based, privately held healthcare technology company founded in 2015 that builds MendelScan, a regulated medical device software designed to identify patients with rare diseases earlier in their care pathway. The core technology applies Human Phenotype Ontology (HPO) and machine learning algorithms to structured patient data in electronic health records, producing ranked lists of suspected genes for clinicians rather than outright diagnoses. Complementary products include a Rare Diseases Knowledge Base, a Rare Disease Signs and Symptoms database, and a Rare Disease Genes database, which together form an integrated clinical decision support suite for primary care.

The company's primary customer segment is UK healthcare providers — specifically GPs across the NHS — with named flagship alignment to the NHS Long Term Plan and the UK Strategy for Rare Diseases. Go-to-market is direct enterprise sales to NHS systems, supplemented by co-development partnerships with pharmaceutical companies (Sanofi for Gaucher's disease, Alexion for PNH, Ipsen for neuroendocrine cancers and rare bone disorders) and a technology partnership with the NHS Genomic AI Network for genomic-testing pathway integration. The company has accumulated 10 million patient-disease scans and multiple high-credibility awards (NHS AI in Health and Care Award 2023, MIT Solve Horizon Prize 2023, EURORDIS Black Pearl 2023, Santander Innovation in Healthcare Scaleup 2024).

The business model centres on subscription or licensing of MendelScan to healthcare systems, with revenue derived from agreements with NHS bodies and likely service contracts with pharma partners, though pricing is not publicly disclosed. Mendelian has raised approximately $2.4M USD in disclosed funding across Innovate UK (2019) and NHS England (2023), supplemented by non-dilutive accelerator programs including DigitalHealth.London, Pitch@Palace, and Google for Startups. The company remains UK-only in operating geography, with no disclosed revenue or ARR.

Name

Mendelian

Legal name

Mendelian

Website

https://mendelian.co

Company type

Private

Founded year

2015

Operating status

Operating

Headcount range

11–50 employees

Short description

Mendelian is a London-based healthcare technology company that builds MendelScan, a regulated medical device software using Human Phenotype Ontology and machine learning to identify rare disease patients earlier from UK NHS electronic health records, serving GPs and primary care providers with additional pharmaceutical co-development partnerships.

Ownership category

akta.pro rank

Product category

Clinical Decision Support Software

NAICS

Medical and Diagnostic Laboratories (62151), Research and Development in Biotechnology (except Nanobiotechnology) (541714)

SIC

Surgical & Medical Instruments & Apparatus (3841)

akta.pro primary industry

SaMD – Digital Biomarkers & Algorithmic Endpoints (HLACANAF)

akta.pro secondary industries

SaMD – Imaging & Signal Analysis (AI/ML) (HLACANAG), Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD)

Keywords

• Rare disease diagnosis
• Clinical decision support
• Medical device software
• Genomic testing software
• Phenotype-based analytics

Headquarters

HQ city

London

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2B

Offering type

Software

Cost components

Technology or R&D, Personnel, Operations, Marketing or Sales, Infrastructure

Revenue model

1. Healthcare Provider Software Licensing: MendelScan medical device software is provided to healthcare providers (NHS) for rare disease case finding and early diagnosis. Revenue likely derives from software licensing or service agreements with healthcare systems.

Go-to-market motion1 record

Distribution channels1 record

Marketing channels4 records

Core offering

Mendelian develops and sells MendelScan, a medical device software that scans electronic health records using the Human Phenotype Ontology (HPO) and machine learning algorithms to identify patients with clinical features of rare diseases, producing ranked lists of suspected genes to assist clinicians in earlier diagnosis. The company also maintains public reference databases covering rare diseases, associated genes, and phenotypic signs/symptoms, and partners with pharmaceutical companies and the NHS for case finding in conditions such as Gaucher's disease, PNH, and Ehler-Danlos syndrome.

Product overview

Mendelian offers a suite of products centered around their core medical device software, MendelScan, which enables early rare disease identification by analyzing patient phenotypic data. The product portfolio includes a Rare Diseases Knowledge Base, a Signs and Symptoms database, and a Genes database that together form an integrated clinical decision support system. These components are designed to work together: MendelScan identifies potential rare disease cases from patient data, while the knowledge bases provide the clinical and genetic reference information needed for diagnosis.

Differentiator

Problem solved

Functional benefit

Products and services

• MendelScan Medical device software that scans electronic health records using Human Phenotype Ontology and machine learning to identify patients with clinical features matching rare diseases and produce ranked lists of suspected genes, deployed for NHS GPs and primary care physicians in the UK.
• Rare Diseases Knowledge Base A searchable public database of rare diseases with clinical summaries and links to genetic and phenotypic reference information, intended for health researchers and professionals.
• Rare Disease Signs and Symptoms Database A searchable database of phenotypic combinations observed in clinical settings, linking symptom pairs to related diseases and genetic alterations using the Human Phenotype Ontology, intended to support clinicians in identifying potential rare disease diagnoses.
• Rare Disease Genes Database A comprehensive listing of human genes and genetic loci known to be involved in rare diseases, including copy number variations, structural/chromosomal variations, and single nucleotide variations, for clinical and research reference.

Quantifiable outcome

• Patients experience 3 misdiagnoses, visit 5 doctors, and wait over 4 years before diagnosis in the UK without Mendelian intervention
• +2 more outcomes

Named customers1 record

Segments1 record

Ideal customer profiles2 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration1 record

AI capability4 records

Feature4 records

Partnerships

Five partnerships are on record, tiered core, major and flagship.

• SanoficoreStrategic or Co-development PartnerPartnership for Gaucher's Disease Type 1 Case Finding. Sanofi collaboration focuses on identifying patients with Gaucher's disease, a rare lysosomal storage disorder, using Mendel's case finding technology.
• AlexioncoreStrategic or Co-development PartnerPartnership using Machine Learning to improve the diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH). Collaborative effort to identify PNH patients earlier through advanced ML algorithms.
• Genomic AI NetworkmajorStrategic or Co-development PartnerNHS Genomic AI Network partnership for Identifying patients in primary care who meet genomic testing criteria. Mendel's NLP technology integrated with NHS genomic care pathways.
• IpsencoreStrategic or Co-development PartnerPartnership for Recognising neuroendocrine cancers and rare bone disorders in primary care. Collaboration to improve early identification of specific rare disease categories.
• NHSflagshipStrategic or Co-development PartnerFlagship partnership with NHS Long Term Plan and UK Strategy for Rare Diseases. Mendelian integrates with NHS systems for rare disease case finding across UK primary care.

Scale indicators5 records

Recent moves6 records

Expansion highlights5 records

Direct peers

• FDNA (Face2Gene): FDNA develops AI-driven phenotyping tools (Face2Gene) for rare disease identification using facial and clinical features. Most directly comparable to Mendelian's phenotype-based rare disease case finding approach.
• Congenica: UK-based clinical genomics platform focused on rare disease interpretation and diagnosis. Comparable because it serves similar NHS-affiliated rare disease diagnostic workflows with software and data interpretation.
• SOPHiA Genetics: AI-driven genomics platform used by hospitals and labs for genomic data interpretation across rare disease and oncology. Overlaps with Mendelian in applying ML to clinical genomics decision support.

Emerging players

• Fabric Genomics: AI-based clinical genomic interpretation platform supporting rare disease and hereditary cancer diagnostics. Comparable niche focus on ML-driven clinical genomics interpretation for rare disease.
• ThinkGenetic: Developer of digital tools and symptom checkers that help identify patients with possible genetic conditions. Comparable as a smaller, niche rare-disease case-finding and patient identification player.
• Rady Children's Institute for Genomic Medicine: Pediatric genomics institute running rapid whole-genome sequencing programs for rare disease diagnosis. Comparable as a clinical rare-disease genomics program pushing earlier identification in care pathways.

Broad incumbents

• Tempus: Large AI-driven precision medicine company with broad clinical and molecular data capabilities including rare disease applications. Comparable as a broader AI clinical decision support and genomics incumbent.
• Foundation Medicine: Leading molecular diagnostics and genomic profiling company with AI-enabled clinical reporting. Comparable as a broad genomics incumbent whose platforms increasingly touch rare disease case finding.

Regional players

• Genome Medical: US-focused clinical genetics service and telehealth provider connecting patients with genetic specialists. Comparable as an adjacent genomics-care delivery model with limited overlap to UK NHS workflows.

Others

• DNAnexus: Cloud genomics platform providing data management and analysis infrastructure used by clinical genomics programs. Comparable as enabling infrastructure in the clinical genomics stack where Mendelian operates.

Market position

Strengths4 records

Weaknesses4 records

Competitive moat5 records

Key risks5 records

Key highlights6 records

Customer concentration

• Xx.com/mendelian_co

Revenue estimate

Valuation estimate

Number of profiles

Profiles4 records

Funding overview

Funding rounds5 records

Investors5 records

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Mendelian