Saturday, 9/24/16 (Broad Institute) from 10:55am to 1pm:
Analysis of GWAS Data and Querying Publically Available Expression Datasets: A Practical Demonstration (30 mins): Murali Sargurupremraj
Prinicples of and Practical Approaches to QC of Seuqence Data (15 mins): Honghuang Lin
Practical Introduction to Analysis of Sequence Data, EPACTS (45 mins): Chloé Sarnowski
Practical Introduction to Functional Annotation (30 mins): Xueqiu Jian
Practical Introduction to Pathway Analysisa and VEGAS (30 mins): Aniket Mishra
Sunday, 9/25/16 (Broad Institute) from 11:30pm to 2:30pm:
Introduction to Phenotyping Stroke and Dementia in Brackets for Non-Phenotypers (20 mins): Hugo Aparicio
Overview of Cognitive Assessment in Cohort Studies including FHS (45 mins): Matthew Pase
Overview of MRI Analysis Approaches in FHS (45 mins): Pauline Maillard
Practical Issues in Identifying CMB and ePVS (30 mins): Jose Rafael Romero
Significance of, and Practical Issues in Identifying Microinfarcts on Brain MRI (30 mins): Susanne van Veluw
University of Bordeaux
Following my Bachelor’s on a broad Biotechnology background from India, I did Masters on a much narrowed down and an interesting topic “Molecular Genetics” from the University of Leicester, UK. I am primarily interested in the genetics of complex diseases and the effect of environmental interactions. My Ph.D. was on “How intermediate quantitative traits – like cytokines can function as genetic markers for the diagnosis of early onset Asthma”. At present, I am working on the applications of genome-wide (GW) analysis tools in associating genetic background with phenotypes of cerebral small vessel disease and neurological endophenotypes such as cognitive (memory) functions. In addition, I am interested in following up significant findings from GW association studies with respect to its functional impact, by exploring publicly available functional datasets on gene expression, protein function, epigenetic modifications, etc. My future interests will be along this line with additional component like studying the effect of epigenetic modifications.
Honghuang Lin, Ph.D., is an Assistant Professor of Medicine at the Boston University School of Medicine. Dr. Lin’s research focuses on the development of various computational tools to uncover molecular mechanisms underlying complex diseases. In particular, he has rich experience in the analysis of microarray and sequencing data, such as data production, quality control, and downstream bioinformatics analyses. Currently he is serving as the principle bioinformatician for many international projects. In the past six years, Dr. Lin has been involved in several large-scale sequencing projects, including NHLBI Exome Sequencing Project, CHARGE Targeted Sequencing Project, and NHLBI TOPMed Whole Genome Sequencing Project. He also plays an important role in the QC of NHGRI/NIA Alzheimer Disease Sequencing Project (ADSP) sequencing data.
Dr. Sarnowski completed her PhD in Statistical Genetics in December 2015 in France. During her PhD study, she focused on the integration of complex mechanisms in asthma association studies such as disease heterogeneity, epigenetics and gene-by-environment interactions.
Dr. Sarnowski has a multidisciplinary background. After high school, she studied biology for two years. Then, she attended a 2-year program in bioinformatics to get better insights in the methodologies and the available resources of this emerging field. She then enrolled in a Master in Public Health program to learn epidemiology, statistics and genetics. She had the opportunity to do an internship in Statistical Genetics at the French National Institute of Health and Medical Research (INSERM) and she decided to pursue her research project through a 4-year PhD program.
She is currently working as a postdoctoral fellow in Statistical Genetics in the Biostatistics department at Boston University School of Public Health, supervised by Dr. Josée Dupuis. Her areas of research within the Framingham Heart Study (FHS) are genetics of glycemic traits (with Professors. James Meigs & Josée Dupuis), reproductive ageing (with Professors Kathryn Lunetta & Joanne Murabito) and neurogenetics (with Professor Sudha Seshadri).
The University of Texas Health Science Center
Xueqiu Jian is a postdoctoral research fellow at The University of Texas Health Science Center at Houston working with Dr. Myriam Fornage, with the focus on the genetic epidemiology of brain vascular disease and brain aging. Using large-scale genomic data within several international collaboration settings including the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and Alzheimer’s Disease Sequencing Project (ADSP), his work involves the application of bioinformatics tools to prioritize genetics variants and statistical methods to assess genetic associations with neurological traits. Prior to his current position, he obtained his PhD degree in public health at the same institution, with a major in epidemiology and minors in genetics and bioinformatics.
University of Bordeaux
Dr. A Mishra is a quantitative genetics who develops and applies methods to understand the genetic risk architecture of complex human diseases and associated endophenotypes. He did his PhD at QIMR Berghofer Medical Research Centre, Australia under supervision of Assoc. Prof. Stuart Macgregor where he developed the widely used post-GWAS analytical tools VEGAS2 and Pathway-VEGAS. He applied these methods to endophenotypes of glaucoma identifying associated genes and pathways. After finishing his PhD he moved to the Netherlands for a postdoctoral training at the Neuroscience Campus, VU Amsterdam under supervision of Prof. Danielle Posthuma, where he worked to identify genes and pathways associated with fronto-temporal dementia and Alzheimer’s disease. From November 2016 he is holding a postdoctoral position in Prof. Stéphanie Debette’s team at the University of Bordeaux in France, where he is using a number of novel strategies to disseminate the risk architecture of cerebral small vessel disease using Brain imaging data from the 3C-Dijon and i-Share cohorts.
Hugo J. Aparicio is an Assistant Professor in the Department of Neurology at Boston University School of Medicine, a vascular neurologist at Boston Medical Center, and an investigator at the Framingham Heart Study. He was born in La Paz, Bolivia, immigrated to the U.S. with his family, and attended college at Emory University. He completed medical school at the Perelman School of Medicine at the University of Pennsylvania and finished a neurology residency at the Hospital of the University of Pennsylvania. He recently completed a combined vascular neurology/neuroepidemiology fellowship at Boston University. In 2016, he will complete a Master of Public Health in Clinical Effectiveness from the Harvard T.H. Chan School of Public Health. While in fellowship at Boston University, he has been mentored as an early stage investigator by Dr. Sudha Seshadri at the Framingham Heart Study.
In both his clinical practice and research activities, Dr. Aparicio works to identify, characterize, and address both traditional and novel risk factors influencing cerebrovascular disease. At the Framingham Heart Study, Dr. Aparicio focuses on epidemiology research correlating risk factor data, imaging, biomarkers, and genetic screening that can impact stroke risk and outcomes. His specific interests include lifestyle risk factors and the role of biomarkers, genetics and epigenetics in helping us understand the mechanisms by which modifiable behaviors affect stroke risk. He continues to take care of patients at Boston’s largest safety-net hospital, Boston Medical Center, and supervises the outpatient clinic for the Vascular Neurology Fellowship program. He is a member of the American Heart Association and the AHA/ASA Stroke Council, and is a committee member of the AHA Stroke Minority Affairs Committee.
Dr. Matthew Pase is a Research Fellow in Neurology at Boston University School of Medicine and an Investigator at the Framingham Heart Study. Dr. Pase received his Ph.D. in Australia’s with a prestigious Sir Robert Menzies award in recognition of Australia’s longest serving Prime Minister. Dr. Pase relocated to Boston in 2015 to join Professor Sudha Seshadri and the Neurology team at the Framingham Heart Study. Dr. Pase currently holds a Sidney Sax National Health and Medical Research Council Fellowship to investigate vascular risk factors for cognitive decline. He has expertise in implementing neuropsychological assessments in large cohort studies and clinical trials, in both community settings and selected patient groups. Dr. Pase’s primary interests are in understanding the role of vascular health in brain aging, cognitive decline, and neurodegenerative disease. He is interested in the interplay between vascular pathology and Alzheimer’s disease and in uncovering modifiable risk factors for clinical dementia. In addition to his work in neuroepidemiology, Dr. Pase is an investigator for ongoing clinical trials designed to mitigate cognitive decline with nutrition interventions.
University of California, Davis
Pauline Maillard is currently an Assistant Researcher at the University of California, Davis.
Dr. Maillard’s research interests broadly focus on better understanding trajectories of cognitive decline and brain differences in association with vascular risk factors creating the opportunity to detect potentially modifiable factors that, when used as primary prevention strategies, could improve cognitive health and when used as secondary prevention strategies reduce late-life dementia risk. Specifically, her research strategy includes two specific emphases: analytical by developing method for MRI image analyses, and epidemiological by studying the association of new developed MRI derived measures with cognition and deciphering the onset, extent and nature of the effects of vascular risk factors on such measures. She has been collaborating for the last 5 years with investigators of the Framingham Heart Study on projects involving MRI images, and particularly Diffusion Tensor Imaging data.
JOSE RAFAEL ROMERO
Dr. Jose Rafael Romero, MD, is an Assistant Professor of Neurology at the Boston University School of Medicine and Investigator at the Framingham Heart Study. Dr. Romero completed his Neurology residency and subspecialty in Vascular Neurology at Boston University. He then joined the stroke service at Boston University Medical Center where he practices as clinician since 2006. Dr. Romero joined the Framingham Heart Study during his vascular neurology fellowship and now as junior investigator. He is completing a Master in Epidemiology at Boston University School of Public Health. He teaches residents, medical students and junior-faculty from several countries including the United States, Canada and Spain. Dr. Romero is an active reviewer in several journals including Stroke, Neurology and international grant funding agencies.
His research interest is in the prevention and epidemiological study of cerebrovascular disease. He has research grant support from the National Institutes of Health as Principal investigator on a K23 career advancement award and R03 focused on the study of cerebral microbleeds. He is part of international collaborations for the study and prevention of cerebrovascular disease. He is currently leading the epidemiological study of perivascular spaces in the Framingham Heart Study.
SUSANNE VAN VELUW
Dr. Susanne J. van Veluw PhD is a postdoctoral research fellow at Massachusetts General Hospital, Harvard Medical School, in Boston. She obtained her PhD in October 2015, at the University Medical Center Utrecht, the Netherlands. Under supervision of Geert Jan Biessels MD PhD she identified cortical microinfarcts on MRI, combining high field in vivo MRI with post-mortem MRI and histopathology. She is currently working as a postdoc with Steven Greenberg MD PhD and Brian Bacskai PhD. Her focus of research is on the role of vascular Amyloid bèta underlying microvascular lesion formation, in the context of cerebral amyloid angiopathy. She uses translational approaches such as in vivo MRI and high-resolution ex vivo7T MRI in human cases, as well as in vivo multi-photon microscopy in an animal model of Alzheimer’s disease and amyloid angiopathy.
CLAUDIA L. SATIZABAL
Dr. Claudia L. Satizabal is an instructor in Neurology at Boston University School of Medicine in affiliation with the Framingham Heart Study. Her research focuses on lifestyle and genetic determinants influencing abnormal brain aging, stroke, cognitive decline, and dementia.
In her ongoing research, Dr. Satizabal investigates the association of midlife obesity and various biomarkers of metabolic dysregulation, with neuroimaging markers of abnormal brain aging, stroke, cognitive decline, and dementia. She is also actively involved in the Neurology and Cognitive working groups of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, where she leads projects investigating the genetic variation influencing fine motor speed, visual memory, and subcortical brain structures. She participates in several other international collaborations including the Alzheimer’s disease Cohorts Consortium, JPND-BRIDGET, and the Alzheimer’s disease sequencing project.