And Rare Disease Day on February 28 calls attention to the more than 7,000 rare diseases in existence – diseases that affect less than 200,000 people – from Aarskog Syndrome, a rare genetic condition characterized by short stature and facial, limb and genital abnormalities, to Zollinger-Ellison syndrome, which involves tumors that secrete excessive levels of gastrin, a hormone that stimulates stomach acid.

Just 5% of these diseases have treatments available, and even fewer have cures. Until now, there has been little hope for rare disease sufferers that new treatments were even a possibility as the traditional process of drug discovery is slow, expensive, and focused on conditions with large patient populations.

But the rise in generative artificial intelligence (AI) in drug discovery which is accelerating the search for new targets and the design of new molecules to treat rare diseases offers new hope to rare disease sufferers. Insilico Medicine, a generative AI drug discovery company, is using AI tools to uncover new treatment possibilities much faster than the decade or more timeline of traditional drug discovery.

Chemistry42 runs on NVIDIA GPUs and utilizes NVIDIA CLARA – a platform for imaging, genomics, patient monitoring, and drug discovery. It has been leveraged by over 20 pharmaceutical companies and over 15 external and 30 internal programs.

Using this generative AI system, Insilco generated a novel molecule for the treatment of idiopathic pulmonary fibrosis (IPF), a rare, chronic lung disease that causes progressive and irreversible decline in lung function. There are approximately 5 million people with IPF worldwide and the median survival is just 3 to 4 years.

The novel IPF drug recently received Orphan Drug Designation by the FDA and will soon be entering into Phase 2 trials with patients. It's a big milestone for AI drug discovery and the rare disease community – the first time a drug for a target discovered by AI and designed by AI has reached this stage.

And Insilico has also teamed up with a coalition of scientists studying another rare disease – amyotrophic lateral sclerosis (ALS) – to use their AI platform to discover promising new targets for that disease. ALS – also known as Lou Gehrig's disease – is a progressive nervous system disease that affects the brain and spinal cord and causes loss of muscle control that is eventually fatal. The organization Answer ALS has gathered the largest repository of clinical, genetic, molecular and biochemical data on ALS patients, and scientists from Insilico, Johns Hopkins, Harvard University Medical School, Mayo Clinic and other institutions applied Insilico's AI platform to that data to discover new treatment options.

They found 17 high-confidence and 11 novel therapeutic targets which were further validated through experiments using flies' eyes. Eight unreported genes, when suppressed, were shown to strongly rescue the neurodegeneration that is the hallmark of the disase. The findings were published in Frontiers in Aging Neuroscience.