The Experts below are selected from a list of 98127 Experts worldwide ranked by ideXlab platform
Christa Lese Martin - One of the best experts on this subject based on the ideXlab platform.
-
integration of internet based Genetic databases into the medical school pre clinical and clinical curriculum
Genetics in Medicine, 2006Co-Authors: Darrel Waggoner, Christa Lese MartinAbstract:Over the past several years, the field of medical Genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in Genetic Technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with Genetic principles, and the availability of Genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical Genetics class and demonstrate the usefulness of Genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how Genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting. Genet Med 2006:8(6):379–382.
-
integration of internet based Genetic databases into the medical school pre clinical and clinical curriculum
Genetics in Medicine, 2006Co-Authors: Darrel Waggoner, Christa Lese MartinAbstract:Over the past several years, the field of medical Genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in Genetic Technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with Genetic principles, and the availability of Genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical Genetics class and demonstrate the usefulness of Genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how Genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting.
Ann M. Manzardo - One of the best experts on this subject based on the ideXlab platform.
-
Article High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
2016Co-Authors: Merlin G. Butler, Syed K. Rafi, Ann M. ManzardoAbstract:Abstract: Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the Genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in Genetic Technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and Genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory Geneticists and Genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide Genetic counselling for families
-
high resolution chromosome ideogram representation of recognized genes for bipolar disorder
Gene, 2016Co-Authors: Lindsay N Douglas, Ann M. Manzardo, Austen Mcguire, Merlin G. ButlerAbstract:Bipolar disorder (BPD) is Genetically heterogeneous with a growing list of BPD associated genes reported in recent years resulting from increased Genetic testing using advanced Genetic Technology, expanded genomic databases, and better awareness of the disorder. We compiled a master list of recognized susceptibility and genes associated with BPD identified from peer-reviewed medical literature sources using PubMed and by searching online databases, such as OMIM. Searched keywords were related to bipolar disorder and Genetics. Our compiled list consisted of 290 genes with gene names arranged in alphabetical order in tabular form with source documents and their chromosome location and gene symbols plotted on high-resolution human chromosome ideograms. The identified genes impacted a broad range of biological pathways and processes including cellular signaling pathways particularly cAMP and calcium (e.g., CACNA1C, CAMK2A, CAMK2D, ADCY1, ADCY2); glutamatergic (e.g., GRIK1, GRM3, GRM7), dopaminergic (e.g., DRD2, DRD4, COMT, MAOA) and serotonergic (e.g., HTR1A, HTR2A, HTR3B) neurotransmission; molecular transporters (e.g., SLC39A3, SLC6A3, SLC8A1); and neuronal growth (e.g., BDNF, IGFBP1, NRG1, NRG3). The increasing prevalence of BPD calls for better understanding of the Genetic etiology of this disorder and associations between the observed BPD phenotype and genes. Visual representation of genes for bipolar disorder becomes a tool enabling clinical and laboratory Geneticists, Genetic counselors, and other health care providers and researchers easy access to the location and distribution of currently recognized BPD associated genes. Our study may also help inform diagnosis and advance treatment developments for those affected with this disorder and improve Genetic counseling for families.
-
currently recognized genes for schizophrenia high resolution chromosome ideogram representation
American Journal of Medical Genetics, 2016Co-Authors: Merlin G. Butler, Austen Mcguire, Humaira Masoud, Ann M. ManzardoAbstract:A large body of Genetic data from schizophrenia-related research has identified an assortment of genes and disturbed pathways supporting involvement of complex Genetic components for schizophrenia spectrum and other psychotic disorders. Advances in Genetic Technology and expanding studies with searchable genomic databases have led to multiple published reports, allowing us to compile a master list of known, clinically relevant, or susceptibility genes contributing to schizophrenia. We searched key words related to schizophrenia and Genetics from peer-reviewed medical literature sources, authoritative public access psychiatric websites and genomic databases dedicated to gene discovery and characterization of schizophrenia. Our list of 560 genes were arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms. Genome wide pathway analysis using GeneAnalytics was carried out on the resulting list of genes to assess the underlying Genetic architecture for schizophrenia. Recognized genes of clinical relevance, susceptibility or causation impact a broad range of biological pathways and mechanisms including ion channels (e.g., CACNA1B, CACNA1C, CACNA1H), metabolism (e.g., CYP1A2, CYP2C19, CYP2D6), multiple targets of neurotransmitter pathways impacting dopamine, GABA, glutamate, and serotonin function, brain development (e.g., NRG1, RELN), signaling peptides (e.g., PIK3CA, PIK4CA) and immune function (e.g., HLA-DRB1, HLA-DQA1) and interleukins (e.g., IL1A, IL10, IL6). This summary will enable clinical and laboratory Geneticists, Genetic counselors, and other clinicians to access convenient pictorial images of the distribution and location of contributing genes to inform diagnosis and gene-based treatment as well as provide risk estimates for Genetic counseling of families with affected relatives.
-
currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high resolution chromosome ideograms
Gene, 2016Co-Authors: Merlin G. Butler, Syed K. Rafi, Austen Mcguire, Ann M. ManzardoAbstract:Abstract Objective To provide an update of currently recognized clinically relevant candidate and known genes for human reproduction and related infertility plotted on high resolution chromosome ideograms (850 band level) and represented alphabetically in tabular form. Method Descriptive authoritative computer-based website and peer-reviewed medical literature searches used pertinent keywords representing human reproduction and related infertility along with Genetics and gene mutations. A master list of genes associated with human reproduction and related infertility was generated with a visual representation of gene locations on high resolution chromosome ideograms. GeneAnalytics pathway analysis was carried out on the resulting list of genes to assess underlying Genetic architecture for infertility. Results Advances in Genetic Technology have led to the discovery of genes responsible for reproduction and related infertility. Genes identified (N = 371) in our search primarily impact ovarian steroidogenesis through sex hormone biology, germ cell production, genito-urinary or gonadal development and function, and related peptide production, receptors and regulatory factors. Conclusions The location of gene symbols plotted on high resolution chromosome ideograms forms a conceptualized image of the distribution of human reproduction genes. The updated master list can be used to promote better awareness of Genetics of reproduction and related infertility and advance discoveries on Genetic causes and disease mechanisms.
-
clinically relevant Genetic biomarkers from the brain in alcoholism with representation on high resolution chromosome ideograms
Gene, 2015Co-Authors: Ann M. Manzardo, Austen Mcguire, Merlin G. ButlerAbstract:Abstract Objective Alcoholism arises from combined effects of multiple biological factors including Genetic and non-Genetic causes with gene/environmental interaction. Intensive research and advanced Genetic Technology has generated a long list of genes and biomarkers involved in alcoholism neuropathology. These markers reflect complex overlapping and competing effects of possibly hundreds of genes which impact brain structure, function, biochemical alcohol processing, sensitivity and risk for dependence. Method We compiled a tabular list of clinically relevant Genetic biomarkers for alcoholism targeting expression disturbances in the human brain through an extensive search of keywords related to alcoholism, alcohol abuse, and Genetics from peer reviewed medical research articles and related nationally sponsored websites. Gene symbols were then placed on high resolution human chromosome ideograms with gene descriptions in tabular form. Results We identified 337 clinically relevant Genetic biomarkers and candidate genes for alcoholism and alcohol-responsiveness from human brain research. Genetic biomarkers included neurotransmitter pathways associated with brain reward processes for dopaminergic (e.g., DRD2 , MAOA , and COMT ), serotoninergic (e.g., HTR3A , HTR1B , HTR3B , and SLC6A4 ), GABAergic (e.g., GABRA1 , GABRA2 , and GABRG1 ), glutaminergic ( GAD1 , GRIK3 , and GRIN2C ) and opioid (e.g., OPRM1 , OPRD1 , and OPRK1 ) pathways which presumably impact reinforcing properties of alcohol. Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e.g., MBP, MOBP, and MOG). Conclusions High resolution chromosome ideograms provide investigators, physicians, Geneticists and counselors a convenient visual image of the distribution of alcoholism Genetic biomarkers from brain research with alphabetical listing of genes in tabular form allowing comparison between alcoholism-related phenotypes, and clinically-relevant alcoholism gene(s) at the chromosome band level to guide research, diagnosis, and treatment. Chromosome ideograms may facilitate gene-based personalized counseling of alcohol dependent individuals and their families.
Merlin G. Butler - One of the best experts on this subject based on the ideXlab platform.
-
Article High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
2016Co-Authors: Merlin G. Butler, Syed K. Rafi, Ann M. ManzardoAbstract:Abstract: Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the Genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in Genetic Technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and Genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory Geneticists and Genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide Genetic counselling for families
-
high resolution chromosome ideogram representation of recognized genes for bipolar disorder
Gene, 2016Co-Authors: Lindsay N Douglas, Ann M. Manzardo, Austen Mcguire, Merlin G. ButlerAbstract:Bipolar disorder (BPD) is Genetically heterogeneous with a growing list of BPD associated genes reported in recent years resulting from increased Genetic testing using advanced Genetic Technology, expanded genomic databases, and better awareness of the disorder. We compiled a master list of recognized susceptibility and genes associated with BPD identified from peer-reviewed medical literature sources using PubMed and by searching online databases, such as OMIM. Searched keywords were related to bipolar disorder and Genetics. Our compiled list consisted of 290 genes with gene names arranged in alphabetical order in tabular form with source documents and their chromosome location and gene symbols plotted on high-resolution human chromosome ideograms. The identified genes impacted a broad range of biological pathways and processes including cellular signaling pathways particularly cAMP and calcium (e.g., CACNA1C, CAMK2A, CAMK2D, ADCY1, ADCY2); glutamatergic (e.g., GRIK1, GRM3, GRM7), dopaminergic (e.g., DRD2, DRD4, COMT, MAOA) and serotonergic (e.g., HTR1A, HTR2A, HTR3B) neurotransmission; molecular transporters (e.g., SLC39A3, SLC6A3, SLC8A1); and neuronal growth (e.g., BDNF, IGFBP1, NRG1, NRG3). The increasing prevalence of BPD calls for better understanding of the Genetic etiology of this disorder and associations between the observed BPD phenotype and genes. Visual representation of genes for bipolar disorder becomes a tool enabling clinical and laboratory Geneticists, Genetic counselors, and other health care providers and researchers easy access to the location and distribution of currently recognized BPD associated genes. Our study may also help inform diagnosis and advance treatment developments for those affected with this disorder and improve Genetic counseling for families.
-
currently recognized genes for schizophrenia high resolution chromosome ideogram representation
American Journal of Medical Genetics, 2016Co-Authors: Merlin G. Butler, Austen Mcguire, Humaira Masoud, Ann M. ManzardoAbstract:A large body of Genetic data from schizophrenia-related research has identified an assortment of genes and disturbed pathways supporting involvement of complex Genetic components for schizophrenia spectrum and other psychotic disorders. Advances in Genetic Technology and expanding studies with searchable genomic databases have led to multiple published reports, allowing us to compile a master list of known, clinically relevant, or susceptibility genes contributing to schizophrenia. We searched key words related to schizophrenia and Genetics from peer-reviewed medical literature sources, authoritative public access psychiatric websites and genomic databases dedicated to gene discovery and characterization of schizophrenia. Our list of 560 genes were arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms. Genome wide pathway analysis using GeneAnalytics was carried out on the resulting list of genes to assess the underlying Genetic architecture for schizophrenia. Recognized genes of clinical relevance, susceptibility or causation impact a broad range of biological pathways and mechanisms including ion channels (e.g., CACNA1B, CACNA1C, CACNA1H), metabolism (e.g., CYP1A2, CYP2C19, CYP2D6), multiple targets of neurotransmitter pathways impacting dopamine, GABA, glutamate, and serotonin function, brain development (e.g., NRG1, RELN), signaling peptides (e.g., PIK3CA, PIK4CA) and immune function (e.g., HLA-DRB1, HLA-DQA1) and interleukins (e.g., IL1A, IL10, IL6). This summary will enable clinical and laboratory Geneticists, Genetic counselors, and other clinicians to access convenient pictorial images of the distribution and location of contributing genes to inform diagnosis and gene-based treatment as well as provide risk estimates for Genetic counseling of families with affected relatives.
-
currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high resolution chromosome ideograms
Gene, 2016Co-Authors: Merlin G. Butler, Syed K. Rafi, Austen Mcguire, Ann M. ManzardoAbstract:Abstract Objective To provide an update of currently recognized clinically relevant candidate and known genes for human reproduction and related infertility plotted on high resolution chromosome ideograms (850 band level) and represented alphabetically in tabular form. Method Descriptive authoritative computer-based website and peer-reviewed medical literature searches used pertinent keywords representing human reproduction and related infertility along with Genetics and gene mutations. A master list of genes associated with human reproduction and related infertility was generated with a visual representation of gene locations on high resolution chromosome ideograms. GeneAnalytics pathway analysis was carried out on the resulting list of genes to assess underlying Genetic architecture for infertility. Results Advances in Genetic Technology have led to the discovery of genes responsible for reproduction and related infertility. Genes identified (N = 371) in our search primarily impact ovarian steroidogenesis through sex hormone biology, germ cell production, genito-urinary or gonadal development and function, and related peptide production, receptors and regulatory factors. Conclusions The location of gene symbols plotted on high resolution chromosome ideograms forms a conceptualized image of the distribution of human reproduction genes. The updated master list can be used to promote better awareness of Genetics of reproduction and related infertility and advance discoveries on Genetic causes and disease mechanisms.
-
clinically relevant Genetic biomarkers from the brain in alcoholism with representation on high resolution chromosome ideograms
Gene, 2015Co-Authors: Ann M. Manzardo, Austen Mcguire, Merlin G. ButlerAbstract:Abstract Objective Alcoholism arises from combined effects of multiple biological factors including Genetic and non-Genetic causes with gene/environmental interaction. Intensive research and advanced Genetic Technology has generated a long list of genes and biomarkers involved in alcoholism neuropathology. These markers reflect complex overlapping and competing effects of possibly hundreds of genes which impact brain structure, function, biochemical alcohol processing, sensitivity and risk for dependence. Method We compiled a tabular list of clinically relevant Genetic biomarkers for alcoholism targeting expression disturbances in the human brain through an extensive search of keywords related to alcoholism, alcohol abuse, and Genetics from peer reviewed medical research articles and related nationally sponsored websites. Gene symbols were then placed on high resolution human chromosome ideograms with gene descriptions in tabular form. Results We identified 337 clinically relevant Genetic biomarkers and candidate genes for alcoholism and alcohol-responsiveness from human brain research. Genetic biomarkers included neurotransmitter pathways associated with brain reward processes for dopaminergic (e.g., DRD2 , MAOA , and COMT ), serotoninergic (e.g., HTR3A , HTR1B , HTR3B , and SLC6A4 ), GABAergic (e.g., GABRA1 , GABRA2 , and GABRG1 ), glutaminergic ( GAD1 , GRIK3 , and GRIN2C ) and opioid (e.g., OPRM1 , OPRD1 , and OPRK1 ) pathways which presumably impact reinforcing properties of alcohol. Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e.g., MBP, MOBP, and MOG). Conclusions High resolution chromosome ideograms provide investigators, physicians, Geneticists and counselors a convenient visual image of the distribution of alcoholism Genetic biomarkers from brain research with alphabetical listing of genes in tabular form allowing comparison between alcoholism-related phenotypes, and clinically-relevant alcoholism gene(s) at the chromosome band level to guide research, diagnosis, and treatment. Chromosome ideograms may facilitate gene-based personalized counseling of alcohol dependent individuals and their families.
Darrel Waggoner - One of the best experts on this subject based on the ideXlab platform.
-
integration of internet based Genetic databases into the medical school pre clinical and clinical curriculum
Genetics in Medicine, 2006Co-Authors: Darrel Waggoner, Christa Lese MartinAbstract:Over the past several years, the field of medical Genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in Genetic Technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with Genetic principles, and the availability of Genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical Genetics class and demonstrate the usefulness of Genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how Genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting. Genet Med 2006:8(6):379–382.
-
integration of internet based Genetic databases into the medical school pre clinical and clinical curriculum
Genetics in Medicine, 2006Co-Authors: Darrel Waggoner, Christa Lese MartinAbstract:Over the past several years, the field of medical Genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in Genetic Technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with Genetic principles, and the availability of Genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical Genetics class and demonstrate the usefulness of Genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how Genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting.
Muin J Khoury - One of the best experts on this subject based on the ideXlab platform.
-
the interface of Genetics and public health research and educational challenges
Annual Review of Public Health, 2000Co-Authors: Melissa A Austin, Patricia A Peyser, Muin J KhouryAbstract:▪ Abstract As the target date for the sequencing of the human genome approaches, there is growing recognition that public health practice, research, and education will be impacted by new Genetic technologies and information and that a multidisciplinary approach is required. Research in the emerging field of public health Genetics encompasses a broad range of disciplines and will increasingly involve the interactions among the investigators in these fields. An overview of these areas of research is provided, with illustrative examples. Education in public health Genetics needs to address a variety of audiences, including public health graduate students and practitioners, students from related disciplines, and health care professionals. Two new graduate programs at the Universities of Michigan and Washington and training opportunities for public health professionals are described. These educational efforts must be ongoing so that the potential of Genetic Technology and information can be appropriately used ...
-
evolving methods in Genetic epidemiology iii gene environment interaction in epidemiologic research
Epidemiologic Reviews, 1997Co-Authors: Quanhe Yang, Muin J KhouryAbstract:Genetic epidemiology is increasingly focused on the study of common diseases with both Genetic and environmental determinants. The concept of geneenvironment interaction is becoming a central theme in epidemiologic studies that assess causes of human disease in populations (1). Advances in Genetic Technology and the work of the Human Genome Project will make it easier for the study of gene-environment interaction to become an integral part of epidemiologic research. In this presentation, we will review the epidemiologic concepts and definitions applied to die study of gene-environment interaction in epidemiologic research and give an overview of both the traditional and emerging approaches to such research.
-
from genes to public health the applications of Genetic Technology in disease prevention Genetics working group
American Journal of Public Health, 1996Co-Authors: Muin J KhouryAbstract:OBJECTIVES: With advances in the Human Genome Project, the implications of Genetic Technology in disease prevention should be assessed. METHODS: The paradigm suggested in The Future of Public Health--assessment, policy development, and assurance--was used to examine the continuum from Genetic Technology to public health practice. RESULTS: First, important public health functions are to (1) assess the impact of genes and their interactions with modifiable disease risk factors on the health status of the population and (2) assess the impact and safety of Genetic testing on the population. Second, given the many implications of Genetic testing, the public health community should participate in policy development related to the timing and use of Genetic testing in disease prevention. Third, whenever appropriate, the public health community needs to ensure the development of public health Genetics programs (e.g. newborn screening) and evaluate the quality and effectiveness of the use of Genetic testing in dise...