Mystery Ailments and Mendelian Inheritance

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.

To expand their researcher, Dr. Denny and his colleagues turned to Vanderbilt University's hospital system. The researchers found 807 patients carrying mutations in genes for 17 diseases. Out of the 807 only 8 were actually diagnosed with a genetic disease. The mutations that were found often did not fit the standard profile for many diseases. Often the mutations patients had were 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.
https://www.nytimes.com/2018/03/15/health/genetic-mutations-diagnosis.html
http://knowgenetics.org/mendelian-genetics/