 |
|
|
|
|
 |
|
| Home | About NHGRI | Newsroom | Staff |
|
|
|
|
 |
The Johns Hopkins Unviversity Center Scholars Program
Online application is not currently available, please contact the coordinator for an application. OverviewThe Center Scholars Program, developed by Center for Talented Youth (CTY) and The Johns Hopkins Center for Excellence in Genome Science's (CEGS) Dr. Andrew Feinberg, provides an opportunity for CTY-qualified, underrepresented minority students to study genomics and participate in a graduate level research experience. The program is fully funded and our program dates are as follows:
Eligible students apply first to the CTY course work component, followed by the laboratory internship component. The entire program can stretch over two or more summers. EligibilityEligible candidates are American citizens/permanent residents who, by reason of their culture, class, race, ethnicity, background, would bring diversity to undergraduate or graduate study in the genomic sciences. The program especially encourages applications from African Americans, Hispanic/Latino Americans, Native Americans, Pacific Islanders, and others whose backgrounds and experiences would bring diversity to the field upon graduation from high school and matriculation in an undergraduate institution. Stipend and HousingStudents participating in the Center Scholars Program are fully funded during their stay. CTY Component: Students attending CTY summer programs received tuition and fees, books and supplies, as well as travel to and from the campus. Laboratory Internship Component: The Center Scholars Program will provide students with summer housing, meals, and travel to and from the Johns Hopkins campus. Additionally, all participants enrolled in the internship component of the program will receive a $3,500 stipend. Host Participants for 2007Drs. Feinbers, Chakravarti, Gutting and Gallagher returned to host students. Dr. David Vallee Lab: My research interests involve clinical, biochemical, molecular and therapeutic aspects of human genetic diseases. Currently, we focus on three related areas of investigation. The first involves molecular, biochemical and structural studies of the enzymes of proline and ornithine metabolism including ornithine-delta-aminotransferase (OAT). Deficiency of OAT causes a blinding chorioretinal degeneration known as gyrate atrophy of the choroid and retina (GA). The challenge now is to understand the pathophysiology of the retinal degeneration and how to prevent it. To this end we have produced a knockout mouse deficient in OAT and have show that it develops a retinal degeneration. We are using this model to understand why the retina is involved and to test various experimental therapies for GA. A second research area involves identification of genes that are expressed preferentially or exclusively in human retina. We are interested in the biology of their protein products as well as their possible role in retinal degenerations. One example is PHR1, a gene expressed at very high levels in photoreceptors and other primary sensory neurons for which we have produced a knockout mouse. Third, we are interested in the genes encoding the matrix enzymes and membrane proteins of the peroxisome, a ubiquitous subcellular organelle whose protein components participate in numerous metabolic pathways. Using a variety of strategies, we have cloned several of these and are examining their role in genetic disorders of peroxisomal biogenesis (e.g. Zellweger syndrome) and function (e.g. X-linked adrenoleukodystrophy). We also have a special interest in peroxisomal ABC transporters and have produced knockout mice for the genes encoding some of these to elucidate the function of these transporters and their role in human genetic disease. Lastly, we have taken advantage of the recently available human genome sequence to collect and analyze all the genes known to be involved in human genetic disease. In a search for general principles of disease, we are correlating the function of the protein products of these disease genes with various aspects of the disease phenotypes.Dr. Joshua Mendell Lab: Our research focuses on a recently described class of small regulatory RNAs known as microRNAs. These ~18-25 nucleotide long RNA molecules regulate the stability or translational efficiency of target mRNAs. It is estimated that at least 30 percent of human transcripts are regulated by microRNAs. Accumulating evidence demonstrates that these molecules play essential roles in normal physiology and are commonly dysregulated in human disease states such as cancer. We have developed tools that allow the analysis of expression of all known microRNAs simultaneously and we are applying these methodologies to study microRNA expression and function in physiologic and pathophysiologic states. Recently, we identified a group of microRNAs that are directly regulated by the oncogenic transcription factor c-Myc. This was the first mammalian transcription factor shown to control microRNA expression. Furthermore, our studies suggested that these microRNAs play an important role in tumorigenesis. We also recently discovered a microRNA that exhibits regulated expression during the cell-cycle. Ongoing studies in my laboratory aim to further elucidate how these microRNAs are regulated, functionally dissect the specific pathways regulated by these microRNAs, and characterize additional microRNAs that act as oncogenes and tumor suppressors. Host Laboratory Participants for 2006Dr. Andrew Feinberg Lab: Epigenetics involves changes in DNA and chromatin structure that are remembered by the cell when it divides, such as DNA methylation, genomic imprinting and histone modification. Epigenetics is important because most of the differences between a germ cell and a somatic cell, or two different tissue types, or a cancer and a normal cell do not involve the DNA sequence but epigenetic changes. Epigenetics may also help to explain complex traits involved in late onset diseases such as diabetes and psychiatric disease. Much of our work has been focused on genomic imprinting, a marking of genes in the germline that causes a specific parental allele to be silenced. We have discovered a large domain on chromosome 11 containing multiple imprinted genes that play diverse roles including hormone-mediated growth stimulation, control of the cell cycle and apoptosis. These genes include IGF2, an autocrine growth factor in cancer, p57/KIP2, a cyclin-dependent kinase inhibitor that causes cell cycle arrest, and LIT1, a 70 kb antisense transcript within and oppositely imprinted to an imprinted gene for a voltage-gated potassium channel. We have also found that some of these genes show loss of imprinting (LOI) in cancer and in Beckwith-Wiedemann syndrome (BWS), a hereditary disorder that predisposes to cancer. LOI involves expression of both parental alleles or the wrong parental allele of several of these genes, including IGF2 and LIT1, leading to increased cell proliferation. LOI occurs commonly in cancer, and we have also found that in vitro fertilization can cause LOI and BWS. By performing an "epigenotype-phenotype" study, we have determined the role in disease of the invidual BWS genes on chromosome 11. We have also found that LOI is common in adult cancers and may serve as a marker for colorectal cancer risk. The laboratory has also been performing studies on the mechanism of epigenetic regulation, by exploring the relationship between DNA methylation, genomic imprinting, and histone modification. One experimental approach has been the development of an in vitro model system for the study of stem cells, in which epigenetic marks are acquired during differentiation, and the factors responsible can be manipulated experimentally. Dr. Aravinda Chakravarti Lab: Common human diseases, be they birth defects, diabetes, cardiovascular disease, infectious disease, psychiatric illness or neurodegenerative disease, arise from a combination of genetic and environmental factors. The familial nature of most diseases suggests an underlying genetic susceptibility, but environmental, stochastic or epigenetic factors are also critical. Additional genetic hallmarks of complex disorders are that the underlying mutations are neither necessary nor sufficient for the development of disease, and that these mutations are common in the population. We hypothesize that most complex diseases arise from common, missense or regulatory mutations in genes encoding proteins within a pathway. Moreover, protein-protein and DNA-protein interactions are important in the development of these phenotypes. A major challenge in contemporary human genetics is the molecular dissection of complex human diseases, enabling not only the mapping and identification of the component genes but also the understanding of how genetic interactions lead to the phenotype. This laboratory focuses on the development and application of molecular genetic, genomic and computational methods for the dissection and identification of the multiple genes, and their characteristics, in representative complex human diseases. Our genetic studies are focused on Hirschsprung disease, hypertension, and schizophrenia. Dr. Mimi Jabs Lab: Birth defects occur in approximately five percent of newborns, and there are more than 700 inherited conditions with craniofacial abnormalities. The research focus of Dr. Jabs' laboratory is to increase our understanding of the molecular basis of human developmental malformations, especially craniofacial disorders such as Crouzon, Apert, and Treacher Collins syndromes. Mutations for craniosynostosis and mandibulofacial dysostosis conditions were identified in homeobox and helix-loop-helix transcription factors and growth factor receptors. Current experimentation involves gene expression and protein interaction studies in animal model, biochemical and cellular systems. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways involved in normal and abnormal developmental processes, and phenotype-genotype correlations. Dr. Shannon Fisher Lab: Human genetic diseases affecting the development and function of the skeleton represent a significant source of morbidity and mortality. However, they have also proven a rich source of biological information about the skeleton. My lab is taking a genetic approach to the study of skeletal development, using the zebrafish as a model system. The accessibility of the zebrafish embryo, and the ease of creating and screening for mutations, make it ideally suited for developmental genetics. There are four main areas of research in the lab:
Dr. Garry Gutting Lab: Determining CFTR genotype in phenotypes that overlap with cystic fibrosis (atypical CF, chronic sinusitis, male infertility and obstructive lung diseases). Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches. Determining the biological role of the CFTR protein by identifying mutations in patients with CF characterization of CFTR transcripts and protein from patients of various genotypes and analysis of chloride conduction properties of mutated CFTR expressed in various cell types. Structure/function analysis of chloride channels expressed in epithelial tissues and retinal neurons. Dr. Michaela Gallagher Lab: The Neurogenetics and Behavior Center is a unique resource for using gene targeting technology to study basic functions of the brain and disorders relevant to psychiatric and neurological disease.The Center provides behavioral assessments in three broad functional domains: sensorimotor, affective processes, and cognition, the latter including learning, memory and attention. Phenotypic analysis in these domains provides services to investigators and research groups located at Johns Hopkins University and other sites. In addition to providing a facility for standard behavioral testing and data analysis, investigators in the Center, who are internationally recognized behavioral neuroscientists, work collectively to develop innovative assessments appropriate to the research goals of the users. The Center also provides a resource for training young scientists in the wide range of expertise needed to accomplish integrative research, bridging from the genomic/molecular/cellular levels of analysis to the study of behavioral systems and functional disorders. Principal Investigators (PI)
Helpful Links
Last Reviewed: May 13, 2008 |
|
|
Privacy CopyrightContactAccessibilitySite MapStaff DirectoryFOIAHome |
   |
|
Print Version