Advisory Board and Editors Medical Genetics

Journal Factsheet
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Danielle Posthuma

Fenna Diemer Lindenbaum Chair in Statistical Genetics; VU University & VU University Medical Centre, Amsterdam, The Netherlands; Executive Board Member Dutch IPSc Center; Director of Genetic Cluster Computer; Elected Member Young Academy of Netherlands Royal Society of Arts and Sciences.

Juan L Rodriguez-Flores

I am a Computational Biologist, Assistant Professor at Weill Medical College of Cornell University. I use -omic data to understand the mechanisms of disease risk.

I began my career as a Biology Undergraduate at MIT, where my first research project was to invent a method for attaching DNA to glass as part of the then-unfinished Human Genome Project. After MIT, I explored career options in Medical School Sillicon Valley and NIH, eventually earning a PhD in Bioinformatics and Systems Biology from UCSD. My doctoral dissertation involved characterizing the regulatory genetics of the adrenaline-synthesis gene PNMT, as well as more broadly studying the human adrenergic stress pathway. Seeking additional training in genomics and statistics, I spent a year working with Kelly Frazer at the Moores UCSD Cancer Center, followed by a move to Weill Cornell Medical College in 2010. As a postdoc, I developed a set of genomic analysis skills and tools that I applied to numerous projects, both locally and with international collaborators such as the 1000 Genomes Project, Weill Cornell Medical School in Qatar, and the University of Puerto Rico. In my current appointment as Assistant Professor, I am tasked with developing biotechnology tools for precision medicine.

Antonio Salas

I am a Professor at the University of Santiago de Compostela (Galicia, Spain). During the last few years I have been investigating in various fields of biomedical research, such as the analysis of genetic susceptibility to complex and common diseases (breast cancer, schizophrenia, autism, etc.), rare diseases (Wilson's disease, congenital ichthyosis, mitochondriopathies, etc.), bioinformatics / biostatistics (regarding HapMap, 1000 Genomes, statistical procedures in epidemiology and genetics, etc.), molecular / archeo-genetic anthropology, and forensic genetics (population sub-structure, interpretation (statistics) of the test Medical-legal research haplotype markers, etc).
I am the head of a consolidated research group, GenPoB (Population Genetics in Biomedicine), based at the Health Research Institute (IDIS) of Santiago de Compostela (Galicia, Spain), that is in turn integrated into the Genetics and Systems Biology group.
For more than a decade I have been heavily involved in a variety of projects related to genomics and other fields of -omic ’sciences (e.g. transcriptomic, epigenomic), in complex pediatric diseases, infectology and vaccinomics.

Yuan Shang

Dr. Yuan Shang works on Alzheimer's Disease (AD) at the University of Arizona. He combines any potential methods and data to search potential therapeutic opportunities for AD. He is an expert on omics data analysis, multi-omics integrations, network-based pattern recognition, and machine learning-based biomarker discoveries.

Amit Singh

Dr. Singh received his B.Sc. from the Government Degree College Nahan, H.P. University, India and his M.Sc. and Ph.D from Devi Ahilya University, Indore, India. After a short stint as a Research Associate in the field of Trangenics of silkworm, Bombyx mori, in Indian Institute of Sciences (IISc.), Bangalore, India, Dr. Singh moved to Academic Sinica Taiwan to pursue post doctoral research in the field of eye development using Drosophila melanogaster model system. In 2002, Dr. Singh moved to Baylor College of Medicine, Houston, Texas to further pursue his work on Drosophila eye development and was promoted to an instructor (non-tenure track faculty) position in 2004. Dr. Singh was hired at University of Dayton as a tenure track assistant professor in 2007 and promoted to associate professor in 2013. To date, he has published one book and 52 papers.

Kumaravel Somasundaram

Kumar Somasundaram is a Professor at Department of Microbiology Cell Biology, Indian Institute of Science, Bangalore, India. He obtained his Veterinary Medicine degree (1985) from Madras Veterinary College, Masters in Biotechnology (1987) and Ph.D. in bacterial genetics (1993) from Madurai Kamaraj University, Madurai, India. Subsequently, he did his post-doctoral training at Northwestern University and University of Pennsylvania in Cancer Biology before moving to Indian Institute of Science (1999) as a faculty. The major focus of his laboratory is genetics of glioma, the most common primary adult cancer

Monika Stoll

Professor of Genetic Epidemiology at the Medical Faculty and Director of the Leibniz-Institute for Arteriosclerosis Research at the University of Muenster, Germany. Former Associate Editor of Physiological Genomics, Academic Editor of PLoS ONE. Main research interests: Genetics of complex disease traits, in particular cardiovascular and inflammatory diseases; comparative genomics, evolutionary medicine.

Anne Marie Strohecker

Assistant Professor Departments of Cancer Biology and Genetics and Surgery, The Ohio State University

We are interested in mechanisms of autophagy regulation, with a focus on discovering how to modulate the pathway for optimal therapeutic benefit. Current projects are focused on the identification of novel autophagy regulators and their functional relevance for lung tumorigenesis

Ali Torkamani

Dr. Torkamani obtained his undergraduate degree in chemistry at Stanford University, where he received a Bing Foundation Chemistry Research Fellowship, and his doctorate in biomedical sciences at the University of California, San Diego under the mentorship of Dr. Nicholas Schork as an NIH Genetics Predoctoral Training awardee. In 2008, he joined the Scripps Translational Science Institute as a Research Scientist and Donald C. and Elizabeth M. Dickinson Fellow, and shortly thereafter as an Assistant Professor of Molecular and Experimental Medicine and Mario R. Alvarez Fellow. As an Assistant Professor Dr. Torkamani received a Blasker Science and Technology and PhRMA Foundation Award. In 2012, Dr. Torkamani advanced to Director of Genome Informatics at STSI where he leads various human genome sequencing and other genomics initiatives. Dr. Torkamani is also co-founder and Chief Scientific Officer of Cypher Genomics, Inc.

Dr. Torkamani’s research covers a broad range of areas centered on the use of genomic technologies to identify the genetic etiology and underlying mechanisms of human disease in order to define precision therapies for diseased individuals. Major focus areas include human genome interpretation and genetic dissection of novel rare diseases, predictive genomic signatures of response to therapy – especially cancer therapy, and novel sequencing-based assays as biomarkers of disease.

Brett Trost

Dr. Brett Trost is a Scientist in the Molecular Medicine Program at the Hospital for Sick Children, Toronto, Canada. He is a computational biologist with a particular interest in human genetics.

Ece Uzun

Dr. Ece Uzun is the Director of Clinical Bioinformatics at Lifespan Academic Medical Center and Assistant Professor at the Department of Pathology and Laboratory Medicine at Brown University Alpert Medical School. In her clinical work, Dr. Uzun focuses on building bioinformatics analysis pipelines, developing algorithms, tools and databases to aid in clinical variant detection and annotation. In addition to her clinical work, Dr. Uzun's research group develops novel algorithms to analyze big data and gene networks with a focus on complex disorders such as cancer and neurodevelopmental disorders.

Tiziana Vaisitti

Dr. Vaisitti has been working in the field of CLL since she started her PhD program studying the role of CD38 in the biology and pathogenesis of CLL. She continued the training in hematology/oncology obtaining a 3-year fellowship from the Italian Association for Cancer Research (AIRC), with a project aimed at analysing and dissecting the molecular mechanisms regulating leukemic proliferation and homing. Dr. Vaisitti spent several periods in Italian and foreign laboratories as a visiting scientist including a period at Feinstein Institute for Medical Research, North Shore-Long Island Jewish (NY) and a period at the Dept. of Medical Biochemistry and Immunology, Cardiff University (UK). Recently, Dr. Vaisitti spent 2 years as a visiting fellow at the Weill Cornell Medical College, Dept. of Pathology and Laboratory Medicine (NY), to set up patient-derived xenograft models of CLL and Richter syndrome, and also investigate the functional impact of novel drugs.

In the last 5 years, Dr. Vaisitti’s research has been focused on two main topics. The first one is the functional analysis of genes found recurrently mutated in chronic lymphoproliferative syndromes. Attention has been focused on NOTCH1, SF3B1, BIRC3 and NOTCH2. These works were done in a joint collaboration with the group of Prof. Gaidano (University of Eastern Piedmont, Italy). The second topic is the discovery and analysis of host microenvironmental conditions that favor leukemic development and progression.