Dr. Ethylin Wang Jabs, MD
Dr. Jabs is a clinical geneticist, with expertise in medical genetics, pediatrics, and craniofacial biology. In addition to her appointment as the vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center, she also heads the Interdisciplinary Training in Systems and Developmental Biology in Birth Defects at the Mount Sinai Graduate School of Biomedical Sciences. Before joining Mount Sinai, Dr. Jabs was at the John Hopkins School of Medicine, where she was the Dr. Frank V Sutland Professor of Pediatric Genetics, Director of the Center for Craniofacial Development and Disorders, and Director of the International Collaborative Genetics Research Training Program. She still holds the position of adjunct professor in pediatrics, medicine, and surgery at John Hopkins.
Dr. Jab’s research and clinical practice have focused on developmental genetics and patients with birth defects. Her clinical areas include prenatal diagnosis, birth defects, multiple congenital anomalies, craniofacial and limb anomalies, achondroplasia, macrosomia, micro- and macrocephaly, oral facial clefts, short stature, spina bifida and multiple associated syndromes like Crouzon’s, DiGeorge, Down’s, Fetal Alcohol, Fragile X and Turner’s syndromes. Dr. Jabs is an advisor to several parent support groups, including ‘Smile Train’.
Dr. Jab’s research focuses on unraveling the mechanisms underlying the mutations which cause birth defects and malformations. Her laboratory was responsible for the identification of the first human mutation in a homeobox-containing gene, MSX2, an important regulatory gene in development. In her studies on craniosynostosis, she discovered that similar mutations in the gene, fibroblast growth factor receptor 2 (FGFR2), cause both Jackson-Weiss syndrome and Crouzon syndrome. Dr. Jab’s team also validated novel genetic links underlying ‘sagittal craniosynostosis’, a common birth defect, where the bones on the side and top of the skull fuse prematurely. This genome-wide association study was published in a reputed medical journal, Nature Genetics in November, 2012. The group also demonstrated in a mouse model that inhibiting the protein p38 resulted in prevention of craniosynostosis in a rare genetic disorder, Beare-Stevenson cutis Gyrata syndrome (BSS).
For some of these conditions, Dr. Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging. She also initiated a database of clinical and genetic data for people with craniofacial disorders including those with Möbius syndrome, a rare neurological disorder, to help identify the genetic root of the condition. Dr. Jabs has published close to hundred research articles and book chapters on the genetics underlying craniofacial development and defects. Her research has been funded through multiple grants from the NIH, CDC, patient advocacy groups and Icahn School of Medicine
Dr. Jeffrey Fearon, MD
Dr. Jeffrey Fearon was raised in London, England and New Canaan, Connecticut. After graduating the Mt. Hermon School in Massachusetts, he received his B.A. from Brown University. He subsequently pursued post-baccalaureate studies at Columbia University and then attended medical school at the University of Cincinnati. After completing a full general surgery residency at the Harvard Fifth surgical service in Boston, he pursued a plastic surgery residency at the Massachusetts General Hospital, with Harvard Medical School. Following a one-year craniofacial fellowship at the Children’s Hospital of Philadelphia at the University of Pennsylvania, he joined Dr. Ian Munro at the Dallas Craniofacial Center as a director. Today, Dr. Fearon has an international practice that is limited to craniofacial surgery; specifically, the treatment of pediatric congenital birth defects.
Dr. Fearon is President Emeritis of the Texas Society of Plastic Surgeons, as well as President Emeritus of the American Society of Craniofacial Surgeons. He has also functioned as both Chief of Plastic Surgery and Chief of Pediatrics at Medical City Dallas Hospital. In addition to serving on the editorial board of the Journal of Plastic and Reconstructive Surgery, he has authored many scientific articles and book chapters, has received a U.S. patent for a bone distraction device, and remains actively engaged in clinical research. Dr. Fearon and his wife have three daughters. When not at work, he enjoys both surfing and heli-skiing.
Dr. Joan Richtsmeier, Ph.D
Joan Richtsmeier is Distinguished Professor of Anthropology at the Pennsylvania State University with faculty appointments in the Graduate Programs in Genetics and the Graduate Program Option in Bioinformatics and Genomics of the Huck Institutes of the Life Sciences. She received her PhD from Northwestern University in 1985 and joined the faculty of the Department of Cell Biology and Anatomy, Johns Hopkins University School of Medicine in 1986. In 1999 she became the 55th woman to achieve the rank of Professor at Johns Hopkins School of Medicine since the school opened in 1893. In 2000, Dr. Richtsmeier moved her lab to the Pennsylvania State University where she works with undergraduate students, graduate students, postdoctoral scholars and colleagues to understand the developmental basis of disorders of the head. Dr. Richtsmeier was the State of Maryland’s Outstanding Young Scientist in 1990, received the W. Barry Wood Award for Outstanding preclinical teaching at Johns Hopkins in 1993, the Distinction in the Life Sciences Award from the College of the Liberal Arts Penn State in 2012, and the Faculty Scholar Medal for Outstanding Achievement in the Life and Health Sciences at Penn State in 2014. Her work is supported by grants from the National Science Foundation, the National Institutes of Health, and the Wellcome Trust.
Dr. Richtsmeier’s research focuses on changes in developmental processes that occur in craniofacial diseases like craniosynostosis and Down syndrome. She and collaborators use laboratory mice to model disease mechanisms and have established precise parallels in human and mouse craniofacial disease phenotypes. Her team seeks to understand the complex genetic and developmental basis of variation in head shape in development, especially changes that occur prenatally. Her recent work focuses on the chondrocranium, a transient, cartilaginous endoskeleton of the head that protects the brain and principal sense organs before skull bones mineralize. Working with bioengineers, her team seeks to understand how mechanical stimuli of the cells of the formative brain, skull, and other tissues contribute significantly to the process of craniofacial development. Understanding the interactions of genetic signaling systems and biomechanical forces fundamental to the functional and structural association of developing tissues in normal craniofacial development and conserved over evolutionary time is essential to understanding how changes in development cause disease.
Dr. Devaveena Dey, Ph.D
Postdoctoral Fellow at Brigham & Women’s Hospital, and Research Fellow at Harvard Medical School.
Dr. Dey is a stem cell scientist, who is currently pursuing her research in a pediatric rare genetic musculoskeletal disorder, ‘Fibrodysplasia Ossificans Progressiva’ (FOP). This disorder is caused by a mutation in the bone morphogenetic protein (BMP) type I receptor, ALK2. The BMP pathway is the major signaling pathway underlying bone formation and development. This mutation results in abnormal bone formation within skeletal muscles, joints, and the rib cage, resulting in premature death due to cardiothoracic insufficiency. This ectopic bone formation is often triggered by trauma and injury.
As part of her research efforts, Dr. Dey is trying to understand the effect of the mutation and injury on abnormal bone formation in different tissues. She demonstrated that distinct stem cell populations mediate this pathological bone formation in different tissues, like muscles and tendons under the effect of the mutation. She demonstrated that while injury appears to be critical for intramuscular ossification, tendons and ligaments ossify spontaneously under the effect of the ALK2 mutation, without induction of injury.
Dr. Dey has extensive experience in the study of stem cell function in different tissues under various physiological and pathological conditions. Prior to her work on FOP, she was involved in cardiac and bone marrow stem cell research at the Stanford University School of Medicine. Her graduate work focused on understanding the link between normal stem cells and breast cancer. Dr. Dey has authored multiple research articles, reviews and book chapters on stem cells. She has also played a pivotal role in drafting this Natural History Study Grant. Her research expertise, coupled with her recent work on abnormal bone formation in the rare genetic disorder, FOP (which might have important links with Pfeiffer’s), makes her an ideal candidate in our scientific team, to work collaboratively with Dr. Jabs.
She is highly motivated to help out the broader rare disease community through her scientific expertise. Currently she also serves as a volunteer writer-editor with the National Organization for Rare Disorders (NORD).
Dr. Jesse Goldstein, MD
Dr. Jesse Goldstein is an attending surgeon in the Department of Plastic Surgery at University of Pittsburgh Medical Center and the Division of Plastic Surgery at the Children’s Hospital of Pittsburgh (CHP) of UPMC. He specializes in the treatment of children and adolescents with cleft lip, cleft palate, and disorders of the craniofacial skeleton including craniosynostosis and Pierre Robin sequence. He serves as Director of the Pediatric and Craniofacial Surgery Fellowship at CHP.
Dr. Goldstein was born in the San Francisco Bay Area and moved to Pennsylvania for his undergraduate and medical training at the University of Pennsylvania. While at Penn, Dr. Goldstein completed a Doris Duke clinical research fellowship in Pediatric Trauma and outcomes research. His plastic surgery residency was completed at Georgetown University hospital before returning to Philadelphia for a fellowship in Craniofacial and Pediatric Plastic surgery at the Children’s Hospital of Philadelphia and the University of Pennsylvania Medical Center.
Dr. Goldstein’s clinical focus is centered around improving the function and appearance of children born with craniofacial disorders. He specializes in rhinoplasty, cleft lip/palate repair, orthognathic surgery, cranial reconstruction for craniosynostosis, and cranio-maxillofacial distraction osteogenesis.
Additionally, Dr. Goldstein is actively involved in research focused on outcomes in cleft and craniofacial surgery and he is founding member of several multi-centered outcomes studies. His work is funded by societal, national, and international scientific agencies.
Dr. Aris Economides, PhD
Dr. Aris N. Economides received his Ph.D. in Biochemistry from Michigan State University in 1992, and promptly joined Regeneron Pharmaceuticals. He currently holds the position of Vice President, leading two groups: Genome Engineering Technologies, and Skeletal Diseases Therapeutic Focus Area. In addition, he is a co-founder of Regeneron Genetics Center (RGC), where he is also Head of Functional Modeling. Dr. Economides co-invented Cytokine Traps, VelociGene®, and VelocImmune®, all part of an integrated methodology for target discovery, validation, and the generation of biologic drugs such as the IL1 and VEGF traps, as well as therapeutic antibodies. More recently, he has been developing a new method for Enzyme Replacement Therapy (ERT), one that addresses two of the main limitations of current ERT, namely immunogenicity and inefficient uptake by the tissues most affected in the corresponding Lysosomal Diseases. As part of his involvement with the RGC, Dr. Economides has been working to elucidate the molecular pathophysiology of genetically-driven disorders. An example is his work in Fibrodysplasia Ossificans Progressiva, where he and his team discovered a novel mechanism that explains important aspects of FOP’s pathophysiology and pinpoints a new potential route to therapy.