Improving rare disease detection
changing lives

MendelScan brings early rare disease identification to primary care

Providing NHS services

Individually rare,
collectively common


Distinct rare

1 in 17

People are affected
by a rare disease

3.5 m

People in the UK
with a rare disease

3.4 bn

Cost for un-diagnosed
rare diseases

Finding the undiagnosed

Rare diseases are hard to diagnose. There are thousands of rare diseases, symptomatic presentation is varied and complex, and diseases are often multi-systemic. Because of this, it’s difficult for doctors to recognise these complex patterns and connect the dots. With the rapid advances in disease research, clinicians are under ever growing pressure.

Get in touch for more information on how Mendelian & how our technology can improve rare disease detection in primary care.


We’re helping doctors to diagnose rare diseases and help patients earlier

Our technology,
How MendelScan works

Faster patient treatment
MendelScan enables doctors to diagnose rare diseases and help patients earlier.
Aligned with clinical workflows
Requiring no management from the GP, MendelScan seamlessly integrates with clinical systems and scans patient EHR’s for 100’s of rare disease symptoms against proven clinical algorithms, identifying undiagnosed patients.
Effective route to treatment
Once detected, patients' cases are validated by Mendelian, then flagged to the GP with a detailed report explaining the condition and recommending treatment pathways.

Reduces clinical burden
MendelScan can significantly reduce the clinical burden on the NHS, saving both clinical time and costs associated with undiagnosed rare diseases cases.
Undiagnosed rare disease patients can cost more than double than patients who receive an early diagnosis. (£13,300 vs £5,900 over 10 years).
Early diagnosis of rare diseases can also save the need for 33 unnecessary patient interactions ranging from lab tests, investigations, clinical visit’s and specialist referrals.
13xTier-1 lab tests
3xTier-2 investigations
6xClinical visits
8xPrimary care appointments

Improves patient experience
Quick diagnosis
Rare diseases are quickly identified, giving GP’s the information they need to progress treatment for the patient. On average, 4.4 years earlier than standard care
Focused testing
Removes the need for unnecessary testing, which takes time, costs money, and delays patient treatment.
Specialist pathways
Health care providers can implement appropriate care and treatment to the patient.
Patients get the specialist treatment they need.

Developed by doctors
for primary care

Light touch

Fast, seamless integration with your existing medical platform. Fully integrated with GP clinical systems.

Doesn’t take away
from clinical time

MendelScan actively works in the background, there is no additional software for clinicians to learn or use.

Specialist pathway

Reports are sent directly to practice with clear pathway recommendations for specialist referral & treatment.

Industry leader in rare disease detection, our mission is to end the diagnostic odyssey for rare disease patients within primary care. Working closely with UK primary care we have developed an effective clinical solution to the highest standard’s that meets the demands of doctors and patients.
MendelScan is currently implemented in over 50 NHS practices and delivering benefit to 1 million patients, with a further roll out to 4 million patients planned in 2021.
Mendelian has also been selected as a Primary Care partner to NHS GMSA to establish Primary Care to Genetics Screening pathway.
You can find more detailed information about Mendelian in our product knowledge base.
Faster patient treatment
With MendelScan there is no lengthy implementation process, on-going maintenance or need for additional staff systems training.
Our solution is aligned to NHS primary care workflows which enables fast and efficient roll out and near instant benefit delivery, reducing clinical burden and accelerating patient diagnosis and treatment.

Data integration
MendelScan is seamlessly integrated with NHS clinical systems and EHRs.
Operating to the highest ethical standards MendelScan is rated as a class 1 Medical Device and all patient data is de-identified to ensure data security.
MendelScan is fully integrated with GP clinical systems.

Diagnosis pathways
Rare diseases require specialist treatment, so detecting undiagnosed patients is only part of the solution.
With MendelScan, clinicians will receive a detailed report highlighting the rare disease case and outlining a clear pathway for specialist treatment or referral.
Alleviating the burden placed on the GP to progress appropriate patient treatment

End the diagnostic odyssey


Built on medical expertise

Mendelian is backed up with years of clinical experience, with a team of passionate doctors, engineers and strategists with the singular mission to eliminate the diagnostic odyssey for rare disease patients.

Rudy Benfredj
Co-founder & CEO, NASA Ames
Fran García
Co-founder & Non-excutive chairman
Novartis, Chiarezza, Admiral
Dr Will Evans
Clinical lead
NHS GP, Niemann-Pick UK
Dr Sunny Khan
Clinical strategy
Hadley Mahon
Head of commercial
Huma, Pfizer
Jez Stockdale
Head of strategy
Kamet, N1X10, NHS advisor treasury
Margot Radicati di Brozolo
Business development
Chanaka Ranawickrema
Business development
Medloop, EMIS, Novartis
Dr Orlando Buendia
Head of clinical operations
PanAm health organisation

Benefits calculator

Choose your CCG:

Patient Benefits

Invasive tests saved
Diagnostic x-rays saved
Diagnostic scans saved

NHS Benefits

Referrals avoided to secondary care
GP appointments saved
Contact us for more details on our cost savings analysis. You can also check out our publications here.