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.
Education and Training
DO - University of Medicine and Dentistry of New Jersey, Newark, NJ
Pediatrics - Cooper University Hospital, Camden, NJ
Pediatrics - Cooper University Hospital, Camden, NJ
Medical Genetics - Children's Hospital of Philadelphia, Philadelphia, PA
Biochemical GeneticsClinical Genetics
Titles and Academic Titles
Assistant Professor of Clinical Medicine, Perelman School of Medicine at the University of Pennsylvania
Departments and Services
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA2, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM1, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.
Kallish S, Kaplan P. : A severity scoring system for pediatric Gaucher disease. European Journal of Pediatrics 172(1), 39-43 2013.
Palladino AA, Chen J, Kallish S, Stanley CA, Bennett MJ. : Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short chain fatty acid oxidation defects. Molecular Genetics and Metabolism, 107(4): 679-683, 2012
Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. : Ablepharon Macrostomia syndrome: extension of the phenotype. , 155:3060-3062. American Journal of Medical Genetics Part A 155: 3060-3062, 2011.
Posters and Presentations
Kallish S. "Heritable connective tissue disorders", Temple Rheumatology Grand Rounds, Philadelphia, PA, Mar, 2015.
Awards and Honors
2008, Philadelphia Pediatric Society Award to a member of Cooper University residency class of 2008, for exemplifying the principles of and commitment to community pediatrics.
2005, Dean's Award for Outstanding Achievement to a member of the class of 2005, University of Medicine and Dentistry School of Osteopathic Medicine (UMDNJ-SOM)
2005, Department of Pathology award for achievement, University of Medicine and Dentistry School of Osteopathic Medicine (UMDNJ-SOM)
2005, Department of Pediatrics award for achievement, University of Medicine and Dentistry School of Osteopathic Medicine (UMDNJ-SOM)
2004, Abdol H. Islami, M.D., Foundation scholarship, University of Medicine and Dentistry School of Osteopathic Medicine (UMDNJ-SOM)
2003, Alumni Book Award for Academic, University of Medicine and Dentistry School of Osteopathic Medicine (UMDNJ-SOM)
Editorial and Academic Positions
2014-present, Reviewer, Human Gene Therapy
Academic and Institutional Committees
2014-present, DOM Liaison to the Center for Orphan Disease Therapy
Leadership and Memberships
Memberships in Professional Organizations
2011-present, American Medical Association
2011-present, American College of Medical Genetics
2009-present, Society for Inherited Metabolic Disorders
2006-present, National Tay-Sachs and Allied Diseases Association
- 2010-present, Research Initiative Co-Chair
Patient Experience Ratings
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