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The Johns Hopkins Reynolds Series on Cardiovascular Genetics
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The Johns Hopkins Reynolds Series on Cardiovascular Genetics DRAFT - not for public release
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| Arivinda Chakravarti, MD Non-Mendelian Patterns of Inheritance | |||||||||
| Arivinda Chakravarti, MD Non-Mendelian Patterns of Inheritance 2x | |||||||||
| • What characteristics of families are relevant to the identification of genes for non-Mendelian disorders? | |||||||||
| • How many patients should be sampled to map a gene for non-Mendelian disorders? | |||||||||
| • What are the advantages and disadvantages of family based vs case controlled association studies? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Garry Cutting, MD Human Mendelian Genetics | |||||||||
| Garry Cutting, MD Human Mendelian Genetics 2x | |||||||||
| • What is the extent of variation in the human genome and do deleterious variants always cause Mendelian disease? | |||||||||
| • How many Mendelian diseases are there and how can I find a catalog of these conditions? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Hal Dietz, MD The Use of Animal Models in Human Aortic Disease | |||||||||
| Hal Dietz, MD The Use of Animal Models in Human Aortic Disease 2x | |||||||||
| • Given inherent differences between mice and people, why not use patients with Marfan Syndrome to initially test new treatment strategies? | |||||||||
| • TGFbeta is a critical regulator of some developmental processes that are not altered in the Marfan phenotype; why would that be so? | |||||||||
| • Are there expected toxicities of antagonism of TGFbeta signaling in people with fibrillin-1 deficiency? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Daniele Fallin, PhD Genetic Epidemiology | |||||||||
| Daniele Fallin, PhD Genetic Epidemiology 2x | |||||||||
| • What kind of samples will I need to collect to test for evidence of a particular genetic effect? | |||||||||
| • To do indirect analysis of a candidate gene, how many SNPs do I need to genotype in that gene? | |||||||||
| • When should I use a family design vs an unrelated design? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| John Gearhart, PhD Stem Cells in Cardiovascular Disease | |||||||||
| John Gearhart, PhD Stem Cells in Cardiovascular Disease 2x | |||||||||
| • Why is it difficult to create myocardial cells from human embryonic stem cell lines, if mouse ES cells differentiate so easily into myocardial cells in culture? | |||||||||
| • How has the current US funding on embryonic stem cells impacted on research progress in this area? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Ada Hamosh, MD, MPH Genetic Resources on the Web | |||||||||
| Ada Hamosh, MD, MPH Genetic Resources on the Web 2x | |||||||||
| • How can I use the information I glean from online resources for genetic testing? | |||||||||
| • How does OMIM address cardio-myopathy? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Dan Judge, MD Genetic Engineering in Mouse Models | |||||||||
| Dan Judge, MD Genetic Engineering in Mouse Models 2x | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Charles Lowenstein, MD The Genetics of Atherosclerosis | |||||||||
| Charles Lowenstein, MD The Genetics of Atherosclerosis 2x | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Eduardo Marban, MD, PhD Gene and Cell Based Therapies | |||||||||
| Eduardo Marban, MD, PhD Gene and Cell Based Therapies 2x | |||||||||
| • What differentiates this form of gene therapy from other forms which have encountered difficulties in clinical applications? | |||||||||
| • Do you anticipate any ethical or immunize difficulties with the use of embryonic stem cells as discussed in this presentation? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Victor McKusick, MD The Genetics of Cardiovascular Disease - a 50-year perspective | |||||||||
| Victor McKusick, MD The Genetics of Cardiovascular Disease - a 50-year perspective 2x | |||||||||
| • Why did the somatic cell hybridization method contribute so significantly to gene mapping in the 1970's? | |||||||||
| • What is the definition of synteny? | |||||||||
| • Where lie the challenges and opportunities for future progress in the genetics of cardiovascular disease? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| David Valle, MD, The Human Genome and Cardiovascular Disease | |||||||||
| David Valle, MD, The Human Genome and Cardiovascular Disease 2x | |||||||||
| • With respect to systems biology, how are the systems defined and how do we understand their behavior? | |||||||||
| • What are population bottlenecks? | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Jennifer vanEyk, Ph.D Proteomics and Heart Disease | |||||||||
| Jennifer vanEyk, Ph.D Proteomics and Heart Disease 2x (not yet available) | |||||||||
| • Why are troponin I degradation products are better marker than troponin I | |||||||||
| • How does one choose which animal models to use? | |||||||||
| • Can proteomics be used to screen confounding factors in biomarkers. | |||||||||
| Lecture Transcript | |||||||||
| References | |||||||||
| Victor Velculescu, MD, Ph.D. SAGE Analyses of Human Transcriptomes | |||||||||
| Victor Velculescu, MD, Ph.D. SAGE Analyses of Human Transcriptomes 2x | |||||||||
| Lecture Transcript | |||||||||
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