Image in public domain (via Wiki Commons). Despite our differences, human beings share 99.9% of the genome. In other words, we all differ by a mere 0.1% of genes, which triggers the difference in the way we appear, grow, and develop. Over 80% of rare diseases are caused by genetic mutations in that miniscule difference, and it’s estimated that such undiagnosed diseases affect about 8% of our population. Detecting such diseases is challenging, but researchers are working on new promising techniques. Potential forms of diagnosis for rare and undiagnosed diseases include: ADVERTISEMENT Next Generation Sequencing (NGS), which refers to all large-scale DNA sequencing methods that allows for mapping the entire genome (whole genome sequencing);