Graduate Studies Faculty

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Cheryl L. Maslen, PhD

Professor, Knight Cardiovascular Institute
Director, Program in Molecular and Cellular Bioscience
Admin Unit: SOM-Medicine Department
Phone: 503-494-2011
Lab Phone: 503-494-1652
Office: CHH 14007
Mail Code: CH14M
Molecular & Medical Genetics
Program in Molecular & Cellular Biosciences
Public Health and Preventative Medicine
Research Interests:
Genetics; Heart defects; Down syndrome; Mechanisms of disease
Preceptor Rotations
Dr. Maslen has not indicated availability for preceptor rotations at this time.
Faculty Mentorship
Dr. Maslen has not indicated availability as a mentor at this time.

A major area of interest in the Maslen lab is the genetic basis of congenital heart defects.  Since the majority of congenital heart defects occur sporadically, it is clear that they are complex traits.  This indicates that genetic risk factors combined with environmental factors are the underlying cause of most heart malformations.  In a major advance in this field we identified the gene for a new cell adhesion protein, CRELD1, and demonstrated that mutations in the CRELD1 gene act as genetic risk factors for atrioventricular septal defects, a common heart malformation.  This is the first identified susceptibility gene for a sporadically occurring cardiac septal defect, and as such expands our understanding of congenital heart defects as genetically complex traits.  More recently we have determined that CRELD1 mutations contribute to the occurrence of heart defects in Down syndrome.  This led to the development of a national level program, The National Down Syndrome Heart Project, with investigators at Johns Hopkins and Emory Universities.  This project is based on the concept that children with Down syndrome are at a 2000-fold increased risk for having a heart defect. This provides an opportunity for identifying genetic risk factors in this highly sensitized population through patient-oriented research coordinated with basic investigations using mouse models.  We are currently evaluating whole exome sequencing data to identify additional genetic risk factors for heart defects. Our studies indicate that there is a greatly increased genetic mutation burden in CRELD1 pathway genes. Students in the Maslen lab have the opportunity to be involved in bioinformatic, genetic biochemistry and cell biology approaches to determine the causes of congenital heart defects, the most common form of birth defect.




Our long-term goal is to address the genetic basis of the many serious clinical complications faced by individuals with Down syndrome, with a focus on developing strategies and therapies that will improve their lives.  Nearly one in 600 children is born with Down syndrome, yet we know little about the actual mechanisms underlying the myriad of clinical problems faced by these individuals.  One of the most important problems they face is the cognitive dysfunction that results in mental retardation.  While all individuals with Down syndrome have some degree of cognitive dysfunction, little is known about what factors influence the degree of dysfunction, why the range of dysfunction is so highly variable, or even what areas of the brain are impacted.  To begin to address these important questions, we are doing a pilot study on the cognitive abilities in Down syndrome as the foundation for a new project on the genetic basis of cognitive variability in this disorder.  The purpose of this study is to provide such a neuropsychological profile and to develop a testing battery that will allow distinguishing between low and high functioning children with Down syndrome.  We are currently developing the testing battery and determining the feasibility of administering this battery at multiple sites. The overall goal of the multi-site study is to determine how these neuropsychological features correlate with genetic differences in a large scale study. This will eventually lead to the development of more effective intervention programs for this underserved and vulnerable population.