MedySapiens, Inc. is an AI-driven Genomics company saving lives of newborns with rare diseases. Two main products are NEOseq_ACTION panel/kit and MedyCVi, genetic variant analysis software solution.
Current Status
We had two seed funding in 2018 and 2019. Recently in August we had series-A of $5M. We applied for Korean government matching fund of $2M additionally. As of clinical validation, we completed retrospective and prospective ones both with SNUH, Seoul National University Hospital, by far the best hospital in Korea. We have our partner hospital in San Diego and we are currently talking with Middle Eastern hospitals.
Problem or Opportunity
There are more than 7,000 rare diseases in the world. More than 80% are known to be genetic. Many newborns with rare diseases die these days because traditional screening could not diagnose correctly. Ready-made sequencing methods usually take months to reach the right answer. We picked relatively common and actionable diseases and genes, so we need only a droplet of blood from newborn hill and turnaround time of the test is less than 3 days.
Solution (product or service)
Our two main products are NEOseq_ACTION panel/kit and MedyCVi, genetic variant analysis software solution. NEOseq_ACTION detects, isolates and amplifies 254 genes out of human 20,000~30,000 genes, which contains genetic variants causing 220 relatively common and actionable rare diseases out of more than 7,000 total. NEOseq_ACTION panel and Next Generation Sequencing devices produce biological digital signals and MedyCVi analyzes them clinically, genetically and statistically.
Business model
We are currently writing a research paper titled “Rapid Target Sequencing for patients with suspected actionable genetic diseases” for Journal of Medical Genetics. Soon will be published. Commercial launch at SNUH is scheduled in Q4 this year. The professor in pediatrics division in SNUH is known to be one of the most well-known in pediatric psychiatry not only in Korea but also in the world. Her major areas are epilepsy and autism, both are known to be rare genetic diseases. Our partner hospitals in San Diego and Middle Eastern ones are known to have the most diversified ethnicity groups.
