It was once thought that cancer and blood disorders were the result of “bad luck” alone. In a cruel twist, these diseases would often affect multiple members of single families. Now, it is known that many cases of cancer and blood disorders (over 10% in some instances), are driven by genetic variants that adhere to Mendelian inheritance patterns. One of the major projects in our lab is to better understand the genetic causes of these diseases.

We have a particular interest in caring for patients who are genetic “cold cases”: they have the “phenotype” of hereditary human diseases, but they do not have the “genotype”. We work closely with the Cancer Risk clinic at the University of Chicago to better understand the causes of disease in patients for whom standard genetic testing has not produced an answer.