Erin Brittain

Erin Brittain serves as the administrative assistant for the Jabs Lab. Her duties include maintaining the websites for the CCDD and ICGRTP and maintaining a database of samples recieved by research participants. She recently completed her graduate studies in classical voice in the Peabody Conservatory at Johns Hopkins University, and is pursuing a career in music in additition to working at Mount Sinai.

Jenna Friedenthal

Jenna graduated from Yale University with a B.S. in Molecular, Cellular, and Developmental Biology in May of 2008; she hopes to attend medical school in the future. Previously, Jenna worked in research laboratories at Albert Einstein College of Medicine, where she studied synaptic plasticity in the hippocampus, and Yale University, where she examined the efficiency of the enzyme RNase P. Jenna joined the lab in August of 2008; currently, her research focuses on Beare Stevenson syndrome.

Harald Gaspar

Dr Harald Gaspar obtained his M.D. from the Technische Universität München, Germany in 2002 and his specialty training in Medical Genetics with Professor Albert Schinzel at the Institute of Medical Genetics in Zürich, Switzerland. He was awarded a grant from the Swiss National Science Foundation from 2008-2009 to work in the Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine in New York City, focusing on the Genetics of Moebius Syndrome.

Miriam Gordillo

Miriam graduated from Colegio Mayor de Cundinamarca with a B.S. in Bacteriology and then she got her M.Sc. from National University of Colombia in 1997. She recieved her Ph.D. from Osaka University. Since that time she has been working on the gene responsible for Roberts Syndrome. Her research interests include cell cycle mechanisms and chromosomal structure and their relationship with embryonic development.

Anthony Iacovelli

Anthony graduated from Millersville University in PA with a BS in Biology, an option in Molecular/Biotechnology, and minors in Chemistry, Biochemistry, and English. He previously worked in the pharmaceutical industry and came to Hopkins in the summer of 2002. He graduated from the MS in Biotechnology Program in 2004. His work is primarily focused on Treacher Collins syndromes.

Dr. Ethylin Wang (Mimi) Jabs

Ethylin (Mimi) is the director of the laboratory. She received her M.D., pediatric, and medical genetic training at The Johns Hopkins University. She is the Dr. Frank V. Sutland Professor of Pediatric Genetics and Professor of Pediatrics, Medicine, and Plastic Surgery. The research focus of the laboratory is on the molecular basis of human craniofacial disorders, especially craniosynostosis and mandibulofacial dysostosis. She is also the Director of the Center for Craniofacial Development and Disorders which is a multi-institutional and multidisciplinary center with research, educational, and clinical components. She very much enjoys the adventure of original research and mentoring others.

TEL: 410-955-4160

FAX: 410-502-5677

email: ejabs1@jhem.jhmi.edu

William (Bill) A. Paznekas

Bill has worked at Johns Hopkins University for more than 30 years. He has vast research experience in immunology and molecular biology. His research endeavors include identification of disease genes and comparative genomics. He assists in the experimental design of many of the projects in the laboratory. Bill was received the Institute of Genetic Medicine Staff Award 2004.

Victoria Uhlhorn

Victoria Uhlhorn received B.S. degrees in Biology and Bioinformatics from Ramapo College of New Jersey. She is a Research Technician in the lab who recently started in May 2008. Vicatorias interest in craniofacial research stems from the fact that she herself was born with Goldenhar Syndrome. She is currently working with mice transgenic for Apert Syndrome, and one of her goals is to determine the pathways involved in this syndrome. Apert Syndrome, an autosomal dominant disease, is considered to be one of the most common craniosynostosis syndrome. The mutations involved in Apert Syndrome are located between the second and third extracellular immunoglobulin-like domains of the FGFR2 gene. As of today, the only treatment is surgery. Another goal of this project is to treat the mice, which will hopefully one day translate to humans.

Hugo Vega

Hugo received his M.Sc. and M.D. from the Universidad Nacional de Colombia. He earned his Ph.D. degree from Osaka University, Japan. Hugo has worked on Roberts Syndrome over the last 15 years, mainly in the cloning of the causative gene the pathogenesis of this disease. He is Assistant Professor at Universidad Nacional de Colombia and recently joined the lab as a postdoctoral fellow at the McKusick-Nathans Institute of Genetic Medicine. His current research interests include the elucidation of the mechanism of the establishment of sister chromatid cohesion and the role of lysine acetylation in such process. He is also interested in the understanding of the role of cell cycle control over body patterning during embryo development.

Ying-Li Wang

Yingli got her D.M.D. and Ph.D. from Peking University of P.R.China. She has been in JHU School of Medicine as a postdoctoral fellow. Her research interest is mainly on the molecular mechanism of human craniofacial development and malformations. Her current research involves gene expression during mouse craniofacial developmental processes and generation of transgenic mouse model.

David Ash

Dave graduated from the University of Delaware in 2000 with a B.S. in plant biology and worked as a lab technician at JHU from June 2001 to June 2004. He worked with colleagues on generating SAGE libraries from structures in early embryo. He helped to investigate how gene expression differs throughout embryonic development.

Juanliang (Jerry) Cai

Jerry graduated from Fudan University, Shanghai, P.R.China with a B.S. in Biochemistry in 1997. He then came to the United States and completed his PhD degree in Human Genetics at Johns Hopkins in our lab. He worked on gene expression profiling during early human craniofacial development.

Jerry received the "American Outstanding Student Presentation Award" from the Association of Chinese Geneticists at the 50th Annual Meeting of the American Society of Human Genetics in Philadelphia, 2000

Jacqueline Cho

Jacqueline Cho started just in time for the very fun move of the Jabs Lab to the new Broadway Research Building. She has a B.A. from Wellesley College, Wellesley, MA and has her M.Div. from the University of Chicago, The Divinity School. She worked on projects to locate genetic mutations that are involved in craniofacial disorders. She enjoys reading, running, swimming, and cooking on her free time.

Ross Couwenhoven

Ross earned his DDS degree from the University of Illinois. He did specialty training in pathology at the University of Chicago, and earned a PhD in experimental pathology from the Chicago Medical School. He obtained postdoctoral training in craniofacial biology at the Center for Craniofacial Molecular Biology, the University of Southern California. He is a full time faculty member with the Department of Diagnostic Sciences and Pathology at the University of Maryland Dental School and has a part time appointment with the Pediatrics Department of Johns Hopkins University. He is collaborating with Dr. Jabs and Dr. Lori Kotch on research projects to study the pathogenesis of orofacial clefts utilizing mouse models.

Helen (Billy) Ellison

Maintains the labs.

Louis Fazen

Louis graduated from Brown University in 2002 with a B.A. in Media Studies. He worked in the publishing industry in New York before coming to Hopkins in September 2003. He took additional courses through the JHU Post-baccalaureate Premedical Program, and worked with Anthony Iacovelli on Apert and Treacher Collins syndromes.

Rivka Glaser

Rivka graduated from Goucher College in Baltimore, MD with a B.A. in Biology in 1995. Prior to entering the Predoctoral Program in Human Genetics and Molecular Biology here at Hopkins, she worked at the Weizmann Institute of Science in Rehovot, Israel where she studied the regulation of meiosis in rat oocytes and at Johns Hopkins, studying surfactant protein B deficiency. She completed the PhD program in our lab. She worked on the relationship between age and the development of spontaneous mutations, specifically in the human male germline. Apert syndrome has long been associated with advanced paternal age, and recently the mutations causing this disorder have been shown to arise only on the paternal allele in spontaneous cases. Using this disorder as a model, she investigated the frequency of the two common mutations in Apert syndrome in sperm with age.

Rivka was awarded a National Science Foundation Teaching Fellowship in K-12 Education. After completing her degree, Rivka pursued a career in education.

Brian Kim

Brian is currently a sophomore at the Johns Hopkins University. He is majoring in Biology and his research focuses on the pathogenesis of Apert syndrome.

Samantha Klebe

Samantha is currently a senior at the College of Notre Dame of Maryland pursing a BA in Biology and minor in Chemistry. She previously performed research at the University of Maryland Dental School and came to Hopkins in January 2006 as a participant of the College of Notre Dame/Johns Hopkins University School of Medicine Women Scientists Initiative. Her laboratory work is primarly focused on Apert syndrome.

Johnson C. Lee

Johnson, a student from Johns Hopkins University, double majored in biology and economics. In addition to research, he also volunteered at the JHH Urology Department and the Keswick Multi-Care center. He earned his M.D. from the Johns Hopkins Medical School. His lab work focused on genotype-phenotype correlations in mouse models of craniofacial disorders.

Hyunmi (Hazel) Oh

Hazel, a student at Johns Hopkins University, majored in biomedical engineering and concentrating in electrical engineering. She took flute lessons at Peabody and spent her Friday afternoons volunteering at Keswick Multi-Care center. Hazel was interested in genetic engineering and pursuing a Ph.D.

Hazel was the recipient of a Johns Hopkins University Provost award for her research.

Hazel worked with Dr. Jabs, characterizing and comparing the skull and limb phenotypes of mice models with two different mutations, a Fgfr2 Ser252Trp mutation and Fgfr2 Pro253Arg mutation.

Rebecca Schulman

Rebecca graduated from Goucher College in Towson, Maryland in 2003 with a B.A. in Biology with a molecular concentration. She joined the lab in the spring of 2001. Rebecca worked on the molecular basis of the paternal age effect.

Rebecca is a volunteer firefighter and EMS provider with the Cockeysville Volunteer Fire Company (Sta. 390) in Baltimore County, Maryland. She has also been involved in various community service endeavors including time spent at the R. Adams Cowley Shock Trauma Center, her role as coordinator for Goucher's four yearly blood drives, and other projects with her school's community service organization. She is interested in pursuing an M.D. in emergency medicine.

Brenda A. Shoo

Brenda was an undergraduate at the University of Southern California. There she was a Mellon Minority Fellowship recipient, Ronald E. McNair Scholar and Dean's Scholar. She received her MD from The Johns Hopkins University School of Medicine. Brenda is pursuing a career in academic medicine.

Brenda worked on a project that used mouse models to search for genetic mutations that cause craniofacial anomalies. She received funding through the NIH Research Supplement for Underrepresented Minorities.

Brenda was also the recepient of the Johns Hopkins Henry Strong Denison Excellence in Research Award, 2003, and the SNMA Dr. Wilbert C. Jordan Research Forum Clinical Science Award 2003

Shannon Shulby

Shannon graduated from Dickinson College in PA with a B.S. in biology in 2002. Before arriving at Hopkins last winter, Shannon previously was a research assistant at Drexel University in Philadelphia and the University of Miami. She focused her efforts on studying Beare-Stevenson syndrome.

Miao Sun

Miao received her M.S. and M.D. from China Medical University of P.R. China. She has joined the International Genetic Research Training Program and is a postdoctoral fellow training at the Johns Hopkins School of Medicine. Her research interests include cloning disease genes for human malformations and analyzing mouse models of conditions such as Apert syndrome.

Jason Tsai

Jason graduated from Columbia University in 2002 with a B.A. in biology. He is a medical student at the Johns Hopkins University School of Medicine, and he is looking forward to learning more about academic research.

Ran Xiao

Ran graduated from Peking University in China with her Ph.D. and D.M.D. degrees. She worked at JHU as a postdoctoral fellow. The primary goal of her research was to understand the mechanism and regulation of human craniofacial development and malformation. Specifically, (1) to generate mouse models of these disorders, and (2) to characterize interacting proteins and their roles in the pathogenesis of craniofacial development and malformation.

Ran was a recepient of the "American Outstanding Presentation Award for Postdoctoral Fellow" from the Association of Chinese Geneticists at the 52nd American Society of Human Genetics Annual Meeting, Baltimore, 2002

Yang Zhao

Yang was a student from Oakland Mills High School. She would like to pursue a degree in biology as an undergraduate and then hopes to attend medical school. She worked on identifying the gene that is responsible for a novel craniofacial disease with abnormal suture development.

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