Currently, scientists have discovered 7,000 Mendelian diseases and many have been discovered by screening adults and children. A recent study has shown that many Mendelian diseases and disorders go undetected. Using a electronic database and DNA samples, scientists found that 3.7 patients in the hospital system carried genetic variants linked to a disease. The researchers estimated that 4.5 percent of apparently non-genetic diseases are result of such mutations. A computer program was used to catch some of these hidden disorders by flagging down clusters of certain symptoms in patients. The use of this system could help doctors recognize disorders, and help patients better deal with their ailments. The co-author of this research, Dr. Joshua C. Denny, said that this study is just the tip of the genetic iceberg. Dr. Denny sees a need for much larger databases so more mutations can be discovered.
recessive and they were carrying a single defective copy. Dr. Denny suspects that those carrying a single defective copy had a much milder versions of a disease than those with two copies. The researchers hope that more hospitals will look for Mendelian diseases in patients so as to provide better healthcare. I find this study very interesting because many of us could be walking around with a single copy of a defective gene and not even know it.