Meet the Researcher - Mendelian

We are delighted to award Mendelian our 2020 Alfred Potter Memorial Medical Research Award. This annual award is to support medical research projects that will advance good clinical practice in the management of Addison’s disease.

Mendelian has developed a platform called MendelScan, which uses specifically developed technology to identify the signs, symptoms and features of potential rare diseases in its Electronic Health Records. MendelScan becomes a crucial tool for healthcare providers and clinicians, looking after patients and helping to reach a correct diagnosis. This means patients of all kinds of rare diseases, including Addison’s disease, can receive quicker access to the correct treatment, care and support and the opportunity to participate in clinical trials and perhaps most importantly an answer to their problems.

ADSHG recognises that one of the hardest parts of the Addison’s disease journey is getting an initial diagnosis, and therefore software tools that can help GP’s get to the final diagnosis of adrenal insufficiency faster and more efficiently is of benefit to our future membership. ADSHG Trustee and GP Partner Dr Steve Kell is looking forward to supporting Mendelian as they develop this technology.

Rudy Benfredj, CEO at Mendelian comments: “We're proud that the award is leading to a genuine partnerships between the two organisations. We're honoured to be delivering on a project in collaboration with a patient advocacy group and deliver real benefit so directly for the patient community. This is already very much in line with our mission statement and this award will immediately translate some of the researchers we're doing into actionable insights in Addison's.”

Meet Rudy and learn more about Mendelian's research below.

Research Facts:

Organisation: Mendelian
Type of grant: Alfred Potter Memorial Medical Research Award
Status of grant: Ongoing
Amount of the original award: £10,000
Start date: 7th October 2020

What are the aims of this research?

To identify potential patients with Addison's disease using structured codes (SNOMED CT) from primary electronic health records in the UK.

Why is this research important?

People with diseases like Addison's might undergo a long diagnostic odyssey (multiple visits to the doctor, multiple referrals, multiple tests and hospitalizations), going without a proper diagnosis for years. We aim to digitize a peer reviewed diagnostic criterion for Addison diseases and deploy it into electronic health records, so we can identify potential patients with Addison disease and reduce their diagnostic odyssey.

How will findings benefit people with Addison’s disease and adrenal insufficiency?

By identifying patients with Addison's disease earlier, we reduce 2 main issues:

The diagnostic odyssey patients with Addison's experience to get diagnosed,
The economic burden of the diagnostic odyssey into the healthcare system.

“Meet the Researcher”

Congratulations and welcome Rudy Benfredj! Can you tell us more about what your research project means for people with Addison’s disease and adrenal insufficiency?

We're aiming to deliver real benefit directly for the patient community. This means that we will try to reduce the diagnostic odyssey and increase awareness of Addison disease and implement a digital health approach across the NHS in primary care.

What inspires Mendelian's passion for working to provide better treatments for people living with rare health conditions?

At Mendelian, rare diseases are our priority. We are accelerating diagnosis time, limiting misdiagnosis and improving the clinical pathway to ensure Addison's disease patients are directed to the right specialist the first time.

We understand that the diagnosis of Addison’s disease is complex, challenging and costly due to patients showing a cluster of complex symptoms that can be associated with other, more common diseases. At Mendelian, we have been actively designing solutions to overcome this challenge and to help support GPs in identifying patients with Addison’s disease earlier. In contest, our technology shortens patients’ diagnostic journey, improves coordination across specialists and redesigned care pathways.

Tell us a bit about Mendelian's background and research?

We are a group of software engineering’s, computer scientists, digital health managers and Doctors (GP, Genetists, rare disease and public health specialists) implementing a system to identify people with potential rare diseases by scanning primary care electronic health records in the UK.

What are your research highlights to date?

We already deployed our system into one NHS GP federation of 500,000 electronic health records and achieve to change the diagnostic pathway of the cases we identified. We proved that our algorithms could identify people with rare diseases earlier in patients with already a diagnosis.

What are your plans for the future?

We are expanding into another GP federation of 500,000 electronic health records making the biggest UK project on identifying rare diseases at scale in the UK.

"Our aim is to increase the diagnosis and awareness of Addison's disease into primary care and give equitable access to healthcare for Addison's disease across the UK."

Do you have any advice that you would give to other researchers?

We are very fortunate to have been selected for the Alfred Potter Memorial Medical Research Award and to work with ADSHG to help patients with Addison’s disease. Our advice would be for more researchers to reach out and get involved with organisations such as ADSHG to help improve patient journey and bring more awareness by helping to redesign care pathways. We are very excited to be working closely with ADSHG and we are looking forward to what the future holds!

What are your timelines on the project?

We have a timeline of 6 months to complete the project. We started at the beginning of November 2020 and we aim to be at the final stages by May 2021.

Where can we find out more information about you?

Mendelian Website - Linkedin - Twitter

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