[Startup News] For the First Time, Rare Diseases Are in the Research Spotlight Thanks to AI Startup

Chien Lee
August 13, 2019

***This article is a story curated by SparkAmpLab that can be shared or modified for re-post***

Healx limited, the company behind the revolutionary AI platform, Healnet, has just announced the appointment of Dr. Neil Thompson as Chief Scientific Officer (CSO).  Neil, who is a foremost drug discovery expert, will lead the drug discovery and development team at Healx. Seeing that the company’s mission is to accelerate treatment for the world’s rarest diseases, Neil’s appointment is telling. He comes with more than 30 years of experience in the biotech and pharmaceutical industries, in-depth knowledge of diseases and has led the discovery of more than 10 drugs.

The rare disease conundrum

According to Global Genes, there are 7,000 rare diseases in the world affecting over 350 million people globally. That means roughly 1 in 10 people are affected by a rare disease. Rare diseases are defined as disorders that affect fewer than 1 in 2,000 people. Scientists have found a cure for only about 500 and many have a genetic base.

With R&D estimates ranging from $648 million to upwards of $2 billion for a drug to be approved and reach the market, few drugs are being developed for people who live with a rare disease. The majority of funding has gone into drug discovery for more common diseases, leaving people living with rare diseases to basically just get on with it.

One case in point is 19-month-old Maisie Forrest, born with type 1 spinal muscular atrophy. The disease robs a person of all muscle use – for a baby, the ability to roll, sit up, or swallow, and eventually, the ability to breathe. Maisie’s mother, Ciji Green, has to be with her 24/7 to prevent her from choking on her own secretion. The FDA has approved treatment for kids under 2 years old, which stops the disease from progressing and can also reverse the symptoms over time. Only catch is, it will cost the family an unaffordable $2.2 million.

Healx Limited was founded to change tragic situations like this one.

The Healx solution

Healx aims to combat rare diseases by drug discovery through Healnet, its AI-powered drug discovery platform featuring the world’s most comprehensive knowledge base of rare diseases. 

Using data from a wide range of sources, including clinical trials, scientific literature and chemical structures, the AI platform uses machine learning algorithms to select the best likely drugs for rare diseases.

Healnet represents a completely new model for drug discovery. Not only is it revolutionary, it also gets the job done at a fraction of the time and cost of conventional research.

Because the Healnet database is so comprehensive, the various AI and machine learning algorithms can predict suitable treatment for rare diseases with higher accuracy than other methods. “Over 20 different data sources and data types are being analyzed with both supervised and unsupervised machine learning techniques to empower our pharmacology team to make better decisions, faster," Dr. Tim Guilliams CEO and co-founder of Healx told Forbes.

This method of taking existing drugs that have already been approved for other conditions, and testing their efficacy for other diseases, has also been called drug repurposing. An obvious benefit of this strategy is that it shortens the time from discovery to treatment to months instead of the years it usually takes.

In the case of the patient group, Fragile X Association in the US, it took about 18 months from the start through to clinical trials, compared to 5 to 7 years that it would take a pharmaceutical company to do it. It also costs only around $100,000, whereas a pharmaceutical company would have spent tens of millions.


The award-winning health startup appeared in the global 'Disrupt 100' list 2017 for its potential to disrupt markets globally and change the world we live in.

The company was also a finalist of Pitch@Palace and awarded 'Cambridge Startup of Year' 2016 and 'Cambridge Life Science Business of the Year' 2015.

Healx was founded in 2014 by Dr. Tim Guilliams, a Bio-Chemical Engineer and founder of the Cambridge Rare Disease Network (CRDN) and Dr. David Brown, the co-inventor of Viagra and ex-Global Head of Drug Discovery at Roche. The company is based in Cambridge.


Healx is disrupting the drug discovery status quo through its cutting-edge AI platform reducing the time to get new drugs into the clinic to two years instead of a decade or more. With this strategy, more people who suffer from rare diseases will be helped sooner. 

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