Dr. Gomez-Ospina is a physician scientist and medical geneticist with a strong interest in the diagnosis and management of genetic diseases. Her research program at Stanford is on developing better therapies for a large class of neurodegenerative diseases in children known as lysosomal storage disorders. Her current focus is in developing genome editing of hematopoietic stem cells as a therapeutic approach for these diseases. She established a genetic approach where therapeutic proteins can be targeted to a single well-characterized place in the genome known as a safe harbor. This strategy may potentially change the current approaches to treating childhood neurodegenerative diseases and pave the way for alternative therapies for adult neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease. She also works with other researchers at Stanford to develop point-of-care testing for serum ammonia levels, with the intention of developing a device to improve quality of life for children and families with metabolic disorders. Additionally, she lead a multi-institutional collaboration that resulted in the discovery of a genetic cause of neonatal and infantile cholestatic liver disease.

Dr. Bhoj is an instructor in Human Genetics at the Children's Hospital of Philadelphia and the University of Pennsylvania. She obtained her MD and PhD from the University of Texas Southwestern Medical School at Dallas, where she completed a thesis in human gene discovery under Dr. Andrew Zinn. She then completed a combined pediatrics and clinical genetics residency at CHOP, as well as a molecular genetics fellowship and Masters of Translational Research at Penn. She currently works in the Center for Applied Genomics at CHOP where she studies patients with undiagnosed craniofacial syndromes to discover novel human disease genes, with a focus on targeted treatments for these new syndromes. The syndrome that results from maternal uniparental disomy of chromosome 20 is partially named in recognition of her work on its delineation. This year she was also awarded a Burrough Wellcome Career Award for Medical Scientists, the Society for Pediatric Research Physician Scientist Award, and a Roberts Genomic Forefront Award.

A Board-certified clinical geneticist at Hadassah-Hebrew University Medical Center in Jerusalem, Israel, Dr. Harel has dedicated her professional energies toward searching for genetic defects underlying genetic and genomic disorders of her patients and to understand those defects at a basic molecular level in an effort to find therapeutic options for benefit of the patients and families. Dr. Harel is a graduate of Ben Gurion University of the Negev in Beer Sheva, Israel and completed her Medical Genetics Residency and Genetics Clinical Academic Research Fellowship at Baylor College of Medicine in Texas under the mentorship of Professor James Lupski. Among her greatest accomplishments, she defined an allelic spectrum of disease mutations in ATAD3A, a nuclear-encoded mitochondrial gene, and was able to provide genetic insights into the mechanism by which both monoallelic and biallelic variation in the gene lead to disease. This provided an additional link between mitochondrial dynamics and recognizable neurologic syndromes. She is first-author or co-author on 27 original publications in various prestigious journals including Neuron, American Journal of Human Genetics, New England Journal of Medicine, and Cell Reports.

A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.

Hans Bjornsson received his medical training in his home country of Iceland. Dr. Bjornsson then received a PhD degree in human genetics from the predoctoral program in genetics at Johns Hopkins, followed by combined clinical training in pediatrics and clinical genetics at Johns Hopkins. Dr. Bjornsson joined the faculty at the McKusick-Nathans Institute of Genetic Medicine and the Department of Pediatrics in 2012, where he runs a clinic dedicated to patients with imprinting disorders and Mendelian disorders of the epigenetic machinery (Epigenetic and Chromatin Clinic). His research on a mouse model of Kabuki syndrome, a Mendelian disorder of the histone machinery, has revealed that manipulation of the epigenome may be a possible therapeutic approach for the intellectual disability seen in this disorder. Dr. Bjornsson has received numerous awards for both clinical care and scientific work, including a Young Investigator Research Grant Award from American Academy of Pediatrics Section on Genetics and Birth Defects (2011), the Frank Coulson, Jr. Award for Clinical Excellence (2012), and an NIH director’s Early Independence Award (2013).

Dr. Schaaf is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas. He received his MD and PhD degree in human genetics at the University of Heidelberg in Germany, and then he trained at Baylor to become a board-certified medical geneticist. His post-doctoral research was conducted under the guidance and leadership of Dr. Huda Zoghbi. Since 2010, Dr. Schaaf has been a faculty member and physician-scientist at Baylor College of Medicine. His research at the Neurological Research Institute at Texas Children’s Hospital focuses on the genetics of neurodevelopmental and neuropsychiatric disorders.
 
Dr. Schaaf helps families understand the molecular underpinnings of neuropsychiatric disease. He has investigated the causes of high-functioning autism and proposed a model of “oligogenic heterozygosity”, in which several mild, inherited mutations in autism genes can have synergistic effects to cause behavioral phenotypes. He also has made important contributions to the understanding of copy number variants predisposing to autism and intellectual disability. He was among the first to describe individuals with deletions and duplications of the CHRNA7 gene, which encodes for a nicotinic receptor in the brain. A pilot trial to investigate the molecular signature, clinical phenotypes, and potential treatability of CHRNA7-associated disorders is ongoing.
 
Among the honors and awards, Dr. Schaaf has received is the Texas Children’s Hospital Medical Staff Award 2010 for the Best and Most Complete Physician, the Doris Duke Clinical Scientist Development Award 2011, and the Physician Scientist Award of the Chao Foundation in 2012.
 
In addition to his research and clinical accomplishments, Dr. Schaaf is a highly regarded educator in the field of human genetics. His textbook, Human Genetics – From Molecules to Medicine, has received critical acclaim and helps educate students and physicians around the world. It is prefaced by a foreword from Nobel Laureate Dr. James Watson. An interactive version of the book is available for iPad, iPhone, PC, and Mac.

Ayelet Erez, MD, PhD, was an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and a medical geneticist at Texas Children’s Hospital in Houston at the time she received the award.
 
Dr. Erez received her MD and pediatric residency in Israel followed by a PhD in cancer genetics at Tel Aviv University under the mentorship of Dr. Shai Izraeli. In 2005, she joined the laboratory of Dr. Brendan Lee, a Howard Hughes Investigator at Baylor College of Medicine and subsequently started the American Board of Medical Genetics (ABMG) Clinical Genetics residency program from which she graduated in 2008.  Dr. Erez is interested in translational research that uses mouse genetics to gain insights into human genetic disorders. During her training, Dr. Erez embarked on a project aimed at understanding the pathogenesis of argininosuccinic aciduria (ASA), an inborn error of ureagenesis caused by the deficiency of argininosuccinate lyase (ASL). Dr. Erez generated a novel hypomorphic mouse model of ASA and showed that ASL has a function that was hitherto unknown, as an important regulator of metabolite channeling of arginine for nitric oxide (NO) production. In addition, she showed that tissue-specific deficiency of ASL results in decreased NO production that contributes to the long-term complications like the hypertension seen in ASA. The clinical translatability of Dr.Erez’s work was evident when she and her colleagues successfully used NO supplementation to treat an ASA patient with intractable hypertension that was uncontrolled with multiple medications. The beneficial effect of NO therapy was immediate and sustained. Undoubtedly, her findings open new treatment avenues for multiple disorders involving NO dysregulation.
 
In addition, Dr. Erez has been very actively involved in research aimed at understanding the mechanisms and the clinical significance of genomic rearrangements. She has been involved in the description of novel microdeletion and microduplication syndromes and has contributed to understanding the molecular mechanisms that cause genomic rearrangements. Many of her papers are cited in cytogenetic reports from labs across the U.S., further attesting the translatability of her work to the care of patients with genetic disorders.
 
Dr. Erez’s work has resulted in multiple awards and several publications in high-impact journals.

Stuart A. Scott is an Assistant Professor in the Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, and is an Assistant Director of the Mount Sinai Genetic Testing Laboratory. Dr. Scott received his PhD on leukemia epigenetics at the University of Saskatchewan, Canada, under the mentorship of Dr. John DeCoteau. In 2005, he then joined the American Board of Medical Genetics (ABMG) postdoctoral clinical molecular genetics training program at Mount Sinai School of Medicine and was certified in 2007. Dr. Scott then received additional laboratory training in cytogenetics, which lead to his second ABMG certification in clinical cytogenetics in 2009. In addition to clinical molecular genetics, cytogenetics, and epigenetics, Dr. Scott’s research interests also include the field of pharmacogenetics and studying the role of heritable genetic variation in drug response.
During his ABMG training, Dr. Scott was directly involved in implementing an expanded Ashkenazi Jewish genetic disease carrier-screening panel in the molecular laboratory, as well as an array-comparative genomic hybridization platform for postnatal diagnosis in the cytogenetics laboratory. Additionally, Dr. Scott setup the pharmacogenetic testing menu at the Mount Sinai Genetic Testing Laboratory that includes genes commonly implicated in adverse drug responses (e.g., CYP2C19, CYP2D6) and warfarin dosing (e.g., CYP2C9, VKORC1). A major area of his research involves studying the population structure of pharmacogenetic genes and their variant alleles by surveying different racial and ethnic populations of the New York metropolitan area. As such, the identification and characterization of novel pharmacogenetic alleles is an ongoing area of his research. In collaboration with Mount Sinai cardiologists, current studies are investigating the role of variant alleles in warfarin dosing with additional ongoing studies on antiplatelet pharmacogenetics. Mount Sinai is a clinical site for the NHLBI-sponsored Clarification of Optimal Anticoagulation Through Genetics (COAG) warfarin pharmacogenetics clinical trial, and Dr. Scott oversees the rapid genotyping required at their site. Consistent with his clinical training and pharmacogenetic interests, Dr. Scott is also a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC), whose goal is to provide peer-reviewed and evidence-based practice guidelines to facilitate the clinical adoption of pharmacogenetic testing. In addition, Dr. Scott was recently appointed Co-Director of the Clinical Laboratory Fellowship Program at the Mount Sinai School of Medicine.

Fowzan S. Alkuraya obtained his MD with honors from King Saud University College of Medicine in Riyadh, where he was the valedictorian of his class. Following his graduation, he joined the Georgetown University Hospital pediatric residency Program, where he did his internship and residency. He then joined the Harvard Medical Genetics Training Program as a clinical, as well as a clinical molecular genetics fellow. He was also a postdoctoral research fellow at Richard Maas' lab at the Brigham and Women's Hospital.
Dr. Alkuraya's passion in medical genetics dates back to when he was at medical school. As a final-year medical student, he conducted a study to investigate the influence of religious ruling on attitude towards abortion among families with genetic disorders in Saudi Arabia. As a pediatric resident, he expanded the phenotype of septo-optic dysplasia. During his fellowship, he led a very active, basic research career in developmental biology and developmental genetics specifically in the area of craniofacial and eye development, which earned him the Best Research Award for Fellows from Children's Hospital Boston.
Dr. Alkuraya currently is an instructor of pediatrics at Harvard Medical School, an assistant professor of Human Genetics at Alfaisal University, and a scientist at King Faisal Specialist Hospital and Research Center. He runs an active clinical genetics program and heads a lab, focused on the study of genetics of eye and craniofacial birth defects. He is an expert on homozygosity mapping as a tool in clinical genetics, as well as in his research, which allowed him to characterize the underlying genetic defect for a number of developmental disorders. He is the recipient of the 2008 Tamayoz Award from Dubai-Harvard Foundation for Medical Research and is a member of the Society for Pediatric Research.

Dr. Heather Christy Mefford is a pediatrician and medical geneticist at the University of Washington and Seattle Children's Hospital in Seattle. After completing her undergraduate studies in chemical engineering at Washington University in St. Louis, Heather entered the MSTP (MD/PhD program) at University of Washington in 1995. Her graduate work in the Department of Genetics (now Genome Sciences) was with Dr. Barbara Trask, where she focused on understanding the evolutionary relationship of duplicated sequences near the ends of human chromosomes. It was during her thesis work that she developed an interest in chromosome structure—specifically, complex and duplicated regions of the human genome—and how certain structures might facilitate disease-causing chromosomal rearrangements. After completing the MD/PhD program in 2003, she stayed to pursue training in both pediatrics and medical genetics at the University of Washington.
During her medical genetics fellowship, Dr. Mefford found a place to combine her scientific and clinical interests in the lab of Dr. Evan Eichler. Her current research focuses on regions of the human genome that are especially susceptible to rearrangement because of their genomic structure and how small deletions and duplications of these regions contribute to pediatric disease. She has played a pivotal role in describing several new syndromes important in clinical genetics. She identified a deletion on chromosome 17q12 that causes pediatric renal disease and diabetes. She has also described the clinical features associated with deletions on chromosome 1q21 and 15q13, both of which result in a wide range of developmental problems, including mental retardation, autism, and epilepsy.
Dr. Mefford is continuing to investigate deletions and duplications as a cause of developmental abnormalities and birth defects in the Department of Pediatrics at the University of Washington. In addition, she has a clinical practice in the Medical Genetics clinic at Seattle Children's Hospital. She lives in Seattle with her husband, Chris, and their two children.

Ralph DeBerardinis, MD, PhD is Assistant Professor of Pediatrics and Genetics at the University of Texas - Southwestern Medical Center in Dallas. Dr. DeBerardinis graduated from St. Joseph's University in Philadelphia with a degree in biology. He then joined the MD/PhD program at the University of Pennsylvania and conducted his thesis research on retrotransposition of mammalian L1 elements under the mentorship of Haig H. Kazazian, MD in the Department of Genetics. The experience stimulated a deep interest in the connections between genetics and human health. After graduation, Dr. DeBerardinis joined the Combined Residency Program in Pediatrics and Genetics at The Children’s Hospital of Philadelphia, ultimately obtaining board certification in pediatrics, medical genetics, and biochemical genetics.
Dr. DeBerardinis' clinical work focuses on the inborn errors of metabolism and newborn screening. In the laboratory, he performed post-doctoral research with Craig B. Thompson, MD, in the Abramson Cancer Center at Penn, focusing on the impact of signal transduction pathways on cellular metabolic activities and how these activities support cell growth and cancer. Since January 2008, Dr. DeBerardinis has an independent laboratory at the University of Texas - Southwestern, where he continues to explore the mechanisms by which cell signaling influences metabolism, and is seeking ways to apply this information to the diagnosis and treatment of children with genetic metabolic diseases. Dr. DeBerardinis has received several awards for clinical work, teaching and basic science research, including the Roy G. Williams Award from Penn, the Senior Resident Clinician Award from the Children's Hospital of Philadelphia, and the Neil Buist Award from the Society for Inherited Metabolic Disorders.

Amy Roberts, MD, received her undergraduate degree in biology and women’s studies from Swarthmore College and her medical degree from Dartmouth Medical School. During her pediatrics residency at the University of Massachusetts Medical School, she became interested in clinical genetics and worked with Laurie Demmer, MD, studying primary care physicians’ knowledge of the ethics of genetic testing. Following her residency, Dr. Roberts was accepted into the Harvard Medical School Genetics Training Program. In her second year of training, she began to work with her research mentor, Raju Kucherlapati, PhD, on a genotype-phenotype correlation study for children and adults with a cardiovascular disorder, Noonan syndrome. A multi-center research protocol was established to recruit patients from across the country and around the world. Upon completion of her genetics training, Dr. Roberts joined the Cardiovascular Genetics Program in the Department of Cardiology at Children’s Hospital Boston and continues her Noonan syndrome research. She is board certified in both pediatrics and medical genetics. Her clinical practice includes children with heart disease and a broad range of genetic diagnoses, including cardiomyopathy and Williams, Noonan, Cardiofaciocutaneous, Velocardiofacial, Ehlers Danlos, Marfan, Alagille, and Turner syndromes. Dr. Roberts also serves as a clinical geneticist at the Harvard-Partners Center for Genetics and Genomics and as associate physician and instructor in medicine at Brigham and Women’s Hospital. Dr. Roberts received the 2006 John M. Opitz Young Investigator Award for a research paper investigating the clinical presentation of children with subtelomeric chromosomal deletions and duplications. Dr. Roberts was the lead author of a paper published in 2007 that describes that mutations in the SOS1 gene are responsible for a significant proportion of cases of Noonan syndrome.

Dr. Ronald D. Cohn is Assistant Professor in the Department of Pediatrics and Neurology and in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. Dr. Cohn attended the University GHS Essen School of Medicine in Germany and completed an internship in pediatrics at the Children’s Hospital of the University of Essen. He became interested in neuromuscular diseases during his first year of medical school, when he studied the metabolism profile of patients with lipid storage myopathies. Toward the end of medical school, his interest broadened to include the clinical management and basic science aspects of muscular dystrophies. After completion of his internship in Essen, he started a three-year postdoctoral fellowship in the laboratory of Dr. Kevin Campbell at the Howard Hughes Medical Institute and University of Iowa. Dr. Cohn’s research focused on the molecular mechanisms of abnormal muscle regeneration in the pathogenesis of muscular dystrophies. In 2001, he joined the five-year combined pediatrics-genetics residency program at Johns Hopkins University School of Medicine and served as Chief Resident. He continued to study the molecular aspects of muscle regeneration in muscular dystrophies and other myopathic conditions in the laboratory of Dr. Hal Dietz at the Howard Hughes Medical Institute at Johns Hopkins University School of Medicine. His research into the biology of the maintenance of muscle mass and regeneration, as well as his clinical leadership in the field of neuromuscular disorders and hypotonia, has earned him national and international recognition. He directs the medical genetics residency program at Johns Hopkins and led the effort to establish a newly combined genetics residency program between Johns Hopkins and the NIH, starting in 2011. He has received numerous prestigious awards. His multidisciplinary Johns Hopkins Center for Hypotonia, the first and only of its kind, has earned national and international recognition.