Orbuculum emerged as a handy facilitator in predicting various cardiovascular diseases, Mendelian diseases, cancer, diabetes, etc by using AI on the human genomic data to gain useful insights toward achieving this goal.
Founded by Pranav Gangwal in 2016, Orbuculum was birthed into existence to combat the urgent problems being faced by the healthcare sector vis-a-vis the timely diagnosis of diseases. More often than not, the money and time of the patients go to waste due to the absence of an efficient and reliable early diagnosis.
The effort was a shot in the right direction to improve the general process which largely involved playing trial and error to come to a solution, which results in the proper diagnosis coming out too late.
With an expansive amount of genomic data being available globally Orbuculum’s tool extracts useful information from this large dataset and puts it to use for the above purpose.
This also serves the purpose of providing a useful tool for scientists to gain insights into the genetic basis of a number of life-threatening diseases.
With the Next Generation Sequencing rolling in, the healthcare sector has been propelled into a revolutionary era with its foundations in genomics.
Let’s talk about an example of the kind of work Orbuculum is doing.
Whole-exome sequencing is a method of targeting the protein-coding regions of the genomes. Why is this useful? Whole-exome sequencing has been successful in identifying a number of new casual mutations for diseases that were previously unknown to humankind. With its successful diagnostic rate climbing up to 25% for rare diseases, it’s clinical utility has grown multifold.
The process basically involves identifying common molecular defects in the exome that could lead to a common disease. The blood sample from the subject is then extracted through the kit which can then be used to perform sequencing on the genome of the sample.
Computational strategies and prioritization tools come in handy to filter the variants which can be then traced back to the disease.
Orbuculum’s ground-breaking technology isn’t without its challenges. In order to interpret the whole-exome sequencing data expertise in genomic informatics and clinical medicine are instrumental in providing reliable results and reporting it back to the patient. Another massive hurdle is the sheer volume of the genomic data available for use. There are approximately 2 lakh variants per sequenced individual for the vast amounts of sequencing data.
Orbuculum is making the life of a biologist easier as it makes the intensive and cumbersome computation required to make sense of the vast genomic data a lot easier. Backed by Axilor Ventures Private Ltd., Orbuculum is striving hard as it molds a new history for the healthcare sector.