Staci M. Kallish, DO

Genetics has fascinated Staci Kallish, MD, from an early age, and her interest in the topic is continually renewed as new discoveries in the field are translated into therapies that benefit her patients.

“Medical genetics is an exciting field, as it is evolving so quickly,” Dr. Kallish says.

“The understanding of how genetic factors influence health has increased dramatically, even since I began my training,” Dr. Kallish says. “As new diagnostic methods have been developed, we have learned so much about genetic diseases.”

Among the new diagnostic tools Dr. Kallish uses are chromosomal microarrays, which detect changes in the number of genes. Identifying missing or extra portions of chromosomes with one of these arrays can point to the causes of anomalous features and symptoms.

Another development in diagnostic technology is exome sequencing. The exome is the portion of a genome that actually codes for proteins — that is, the DNA that fulfills a function in the body. Because this portion amounts to only about 1.5% of the human genome, isolating and examining it is an efficient way to discover genetic changes that can cause disease.

“I anticipate even newer technologies furthering these advances,” Dr. Kallish says. “What I think is most exciting is that these new discoveries are leading towards clinical research and new therapies.”

Dr. Kallish is contributing to these advances by engaging in clinical research into several genetic conditions.

Among the subjects of Dr. Kallish’s research are lysosomal storage diseases, which are caused by enzyme deficiencies that prevent cells from breaking down substances that can then accumulate in the body, causing organ dysfunction.

Other studies in which she plays a role focus on inherited connective-tissue disorders and fibrodysplasia ossificans progressiva (FOP), a rare, debilitating disease that causes bone to form outside the skeleton, in connective tissue, progressively restricting movement.

CHOP research has led to clinical trials of the first treatment ever proposed for FOP, a treatment that also holds promise for two other disorders that have different causes, but similar effects.

Along with the thrill of contributing to this rapid expansion of knowledge, Dr. Kallish enjoys the profound satisfaction of treating patients. “I love establishing relationships with patients and their families and following them over time, while managing complex conditions,” she says.