Accelerating rare disease
detection & treatment

We’re building the future of digital disease detection & diagnosis for healthcare

We enable doctors to identify rare & hard to diagnose diseases so they can help patients earlier

The long road to diagnosis presents one of the greatest challenges affecting rare disease patients.

The long road to diagnosis presents one of the greatest challenges affecting rare disease patients.

4+ Years
5+ Doctors
2+ Specialists
3+ Mis-diagnosis

For patients to access life-altering treatment they must first receive a diagnosis.

Advancing rare disease treatment

Learn how Mendelian is partnering with industry

Early detection programs

MendelScan has been proven to enable effective early identification of complex rare disease symptoms on average, 4.4 years earlier than standard care. We are working with industry to add new diseases to our platform.

“By the time I see these patients in my clinic, they are very sick and we’ve missed the window where treatment could have had the most impact.”

Powering studies with cohort Identification

Mendelian is working with key industry partners to transform access to genetic testing and accelerating development of rare disease treatments.

“They were diagnosed 10 years ago and discharged back to Primary Care. Now we know that some portion of patients have a genetic subtype of this disease and there are treatments coming.
We’d like to find these patients and get them the testing they need to open up new treatment options.”

Advancing science with biomarker Validation

Mendelian is collaborating with development and clinical experts to understand early disease phenotypes.

“The diagnostic criteria that exist are for advanced disease when there is no question that the patient is severely ill, but what was going on with this patient 5 years ago?”
Head of Clinical Development, Biotech

Advancing rare disease treatment

Learn how Mendelian is partnering with industry

MendelScan is integrated with existing NHS
primary care clinical systems

Mendelian an EMIS & TPP approved data partner

Mendelian has also been selected as a Primary Care partner to NHS Genomic Medicine Service Alliance (GMSA) to establish Primary Care to Genetics Screening pathway for 20 million patients.

Talk to us about how we are working with the
Pharmaceutical industry to support patients with rare disease


Our technology,
How MendelScan works

Seamless integration

The MendelScan algorithm captures disease features from electronic health records across a patient population.
Requiring no management from the GP, MendelScan seamlessly integrates with clinical systems and actively scans patient EHRs for the complex, 100’s of multi systemic symptoms which may indicate a rare disease.

Detecting the undiagnosed

Patients are matched to published diagnostic criteria for rare diseases.
MendelScan runs a clinically validated detection algorithm which flags EHRs that exhibit symptoms common with rare and hard to diagnose diseases. These undiagnosed cases are then matched with a potential undiagnosed rare disease.

Clinical expertise

Mendelian’s Clinical Team and Disease Specialists perform an extended medical history review.
Every MendelScan report is backed by decades of extensive clinical experience. Detected cases are carefully assessed by our clinical team to confirm the rare disease diagnosis.

Diagnostic pathways

GPs will receive a detailed MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway.
All MendelScan reports include recommendations for specialist referral and treatment so GPs can implement appropriate care reducing clinical burden and ensuring fast patient treatment.

Reducing clinical burden

Healthcare providers decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan
MendelScan enables doctors to help diagnose rare disease patients quicker, ensuring they get the right treatment they need and reducing the clinical burden on the NHS.

Working in partnership

Lets change rare disease together