Suzanne P. MacFarland

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E-mail

macfarlands [at] chop.edu

Location - People View

Philadelphia Campus

3401 Civic Center Blvd
Philadelphia, PA 19104
United States

Suzanne P. MacFarland, MD

Attending Physician

Dr. MacFarland's research focuses on syndromes that predispose to cancer development in children and adolescents. She has initiated several individual and collaborative research projects, working in pediatric polyposis syndromes and Li-Fraumeni syndrome. She is uncovering novel genomic drivers of disease and identifying biomarkers of cancer onset and progression.

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Dr. MacFarland has focused her career on syndromes that predispose to the development of cancer in children and adolescents, and she has initiated several individual and collaborative research projects in furtherance of her research goal.

Her main research project focuses on novel genomic drivers of Juvenile Polyposis Syndrome (JPS), a pediatric cancer predisposition syndrome with a 50 percent risk of early onset gastrointestinal cancer. There are two known genetic drivers if JPS – mutations in SMAD4 or BMPR1A – yet the majority of patients at CHOP seen with this condition do not have a mutation in one of these genes. Dr. MacFarland has been conducting whole exome sequencing and somatic genomic/proteomic analysis on these polyps to better understand genomic drivers and polyp pathogenesis. The incidence of early onset colorectal cancer (CRC) is increasing in the general population without improvement in outcomes in this age group, so understanding the transition of normal colonic mucosa to malignancy is vital to better understand risk and prevention.

In conjunction with her work in novel drivers of polyposis syndromes, she has also initiated a collaborative research project with Dr. Kara Maxwell at the University of Pennsylvania to uncover new genomic drivers in adult and pediatric patients with Li-Fraumeni syndrome. They plan to enroll patients with Li-Fraumeni syndrome and collect blood and stool specimens for cell-free DNA and microbiome analysis.

Finally, as a clinical research interest, Dr. MacFarland has been intrigued by the ability to uncover germline cancer predisposition through the use of wider sequencing efforts ongoing in the research community. She and several colleagues are analyzing the Children's Brain Tumor Tissue Consortium germline sequencing data in collaboration with the cancer predisposition program at Children’s National Medical Center.