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University of Pittsburgh

Research Team

Zsolt Urban

Position: Principal Investigator
Education: MS, Molecular Biology and Biotechology, University of Szeged (1992)
PhD, Biology, Robert Wood Johnson Medical School / Semmelweis University of Medicine (1997)
Research Focus: Dr. Urban is a molecular geneticist. He received his postdoctoral training at the University of Hawaii and served as an Assistant Professor of Pediatrics at Washington University School of Medicine in St. Louis from 2004 to 2009. Dr. Urban is focused on inherited diseases of the extracellular matrix, particularly the elastic fiber system. Human genetic diseases under study include supravalvular aortic stenosis, Williams syndrome, and cutis laxa. Cellular and zebrafish models are used to identify key molecules and processes of elastic fiber formation and maintenance. The insights from rare human diseases and animal models are applied to understand common, complex diseases such as emphysema and aneurysms.

Michele Morrow

Position: Study Coordinator
Education: BS, Psychology, Ohio State University (1998)
PhD, Neuroscience, Northwestern University (2005)
MS, Genetic Counseling/MPH, Human Genetics, University of Pittsburgh (degree expected 2018)
Research Focus: Michelle is responsible for recruiting and consenting research subjects, organizing and coordinating the bi-annual research clinics, and maintaining current Institutional Review Board approval for all of our human subject research at the University of Pittsburgh. She is available to answer questions for cutis laxa patients, research study participants, their family members, and their physicians either about our research studies or cutis laxa in general. Her background is in neuroscience, and her thesis work will focus on the relationship between cutis laxa and immunodeficiency disorders.

Elizabeth Lawrence

Position: Lab Manager
Education: BA, Biology and Archaeology, Washington University (1987)
Research Focus: Elizabeth is sequencing many cutis laxa genes, including the ALDH18A1, ATP6V0A2, ATP7A, ELN, FBLN4, FBLN5, LTBP4, PYCR1, RIN2 and SLC2A10 genes. If disease-causing mutations are identified, they will be verified by repeat sequencing for that participant as well as any of that participant's family members who have enrolled in the study. In addition, Elizabeth is involved in work to discover genes responsible for unknown or undescribed types of cutis laxa. As the lab manager, Elizabeth also assists the rest of the research team with their projects and troubleshoots as needed.

Sandeep Khatri

Position: Graduate Student
Education: BE, Biotechnology, VTU, India (2007)
MS, Biochemistry and Biotechnology, University of Missouri (2009)
PhD, University of Pittsburgh (expected graduation in 2014)
Research Focus: Sandeep's goal in Dr. Urban's lab is to understand the function of the fibulin 4 (FBLN4, EFEMP2) gene, mutations in which cause recessive cutis laxa with vascular and lung problems such as aneurysms and emphysema (ARCL1B). Sandeep studies FBLN4 in zebrafish, which is a model organism that allows him to combine a wide range of genetic, cell biological and imaging techniques. Finally, Sandeep works to identify the key cellular pathway which functions abnormally as a result of FBLN4 mutations. This research may someday lead to the development of therapies for aneurysms caused by connective tissue disorders.

Sevinc Alkan

Position: Graduate Student
Education: BA, Biology, Ankara University (2008)
MS, Human Genetics, University of Pittsburgh (2012)
PhD, University of Pittsburgh (expected graduation in 2016)
Research Focus: Sevinc's research focuses on understanding how mutations in the elastin (ELN) gene cause cutis laxa. Sevinc is studying cells from cutis laxa patients to analyze the cellular consequences of the identified mutations. She also investigates signaling by TGFβ, a growth factor with altered activity in cutis laxa cells. Uncovering the nature of connections between elastin and growth factor signaling may help with developing treatments for cutis laxa that restores correct growth factor regulation.

Chi-Ting Su

Position: Graduate Student Researcher
Education: MD, Kaohsiung Medical University, Taiwan (2003)
MPH, Public Health Genetics, University of Pittsburgh (2012)
MPH, University of Pittsburgh (expected graduation in 2014)
Research Focus: Ting is studying the expression of the transforming growth factor beta (TGFβ) gene in chronic obstructive pulmonary disease (COPD) patients, and exploring the association between clinical symptoms and genetic variation. In addition, Ting is investigating the expression of proteins, such as TGFβ and LTBP4, as well as other cell functions, in cutis laxa research participants and the correlation of these with genetic variation.

Michelle Zorrilla

Position: Graduate Student Researcher
Education: BS, Biology, Florida Atlantic University (2010)
MPH, Public Health Genetics, University of Pittsburgh (2012)
PhD, University of Pittsburgh (expected graduation in 2016)
Research Focus: Michelle’s broader field of interest is the function of the elastic extracellular matrix in human development, and the molecular mechanisms of disease caused by elastic fiber (EF) dysfunction. Specifically, the research focuses on disruption of EF biogenesis as a cause of cutis laxa, as well as emphysema, and other vascular anomalies. She intends to dissect the role of the extracellular matrix and related molecules in early vascular patterning and subsequent blood vessel maturation using zebrafish as a model of the vascular anomalies associated with autosomal dominant cutis laxa (ADCL). Finally, Michelle will attempt to use small molecule drugs to identify the contribution of EF dysfunction and altered signaling to developmental lesions. This research may one day lead to potential therapeutics for ADCL patients and reverse disease caused by the mutations.

Martin Requena

Position: Graduate Student Researcher
Education: BS, Cornell University (2014)
MS, University of Pittsburgh (expected graduation in 2016)
Research Focus: Martin is master's degree student studying the effects of MRPS2, a mitochondrial ribosomal protein subunit gene that has been linked to Cutis Laxa. His research uses human and animal cell models to study the effects of loss of MRPS2 function via controlled knockdown and interference of the MRPS2 gene