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XXX Lab News

Our GWAS on Myasthenia Gravis identifies novel locus

September 6, 2021

Our GWAS on Myasthenia Gravis identifies AGRN as a novel susceptibility locus. The study is published in the Journal of Medical Genetics. 

New study ties India’s genetic diversity to language, not geography

February 8, 2021

Our paper is published in Molecular Biology and Evolution.

Here is the link to our press release.

Common variants link autism, ADHD, Tourette syndrome

February 1, 2021

Our paper (Yang et al.) is published in Biological Psychiatry.

Here is the link to our press release.

Immune Pathways are related to Tourette Syndrome

January 11, 2021

Tsetsos et al. Translational Psychiatry volume 11, Article number: 56 (2021) 

Abstract

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS.

Congratulations to XXX!

October 12, 2020

Congratulations to XXX for sucessfully defending his Master's thesis. XXX now moves on to the Bullman lab at the Fred Hatch Research Center to work on understanding the role of the microbiota in cancer progression.

XXX receives NSF award

May 25, 2020

XXX receives NSF funding to pursue "Randomized Matrix-Sketching Approaches for the Analysis of Massive Human Genomics Data".

Researchers in human genetics have now access to unprecedented amounts of genetic information characterizing how truly different we are from one another. From a Computer Science and Applied Mathematics perspective, the resulting datasets can be thought of as matrices, with the rows representing individuals and the columns representing loci in the genome that correspond to common or rare polymorphisms. Analyzing such datasets, Genome Wide Association Studies (GWAS) have reported over 10,000 strong associations between genetic variants and complex traits. However, tools that allow efficient analysis of very large scale datasets are still missing. Extracting useful information from such datasets promotes the progress of science and, at the same time, advances public health, prosperity, and welfare. This project will bridge the gap between state-of-the-art algorithms  developed in the theoretical computer science community and the application of such algorithms to the analysis of the increasingly larger volume of datasets in the human genetics community.

This project will explore how randomized linear algebra, from a theoretical and practical standpoint, can be used to speed human genetics data analytics. The first research direction will investigate Linear Mixed Models or LMMs: LMMs form a linear model of the genetic effects on the phenotype of interest. Randomized linear algebra tools will be used to speed up the solution of the resulting optimization problem, without sacrificing accuracy. The second research direction will investigate Polygenic Risk Scores (PRS), which typically operate by first selecting a large number of genetic markers (often in the tens of thousands) out of all available markers (often in the many millions) using single marker significance tests. This feature selection stage is followed by building a regression models on the selected markers to predict phenotypes. Randomized linear algebra tools will be used to speed up PRS approaches, while preserving generalization accuracy. Finally, the third research direction, will explore how the particular structure of population genetics datasets can be leveraged in order to design improved randomized linear algebra tools for the analysis of human genetics datasets. 

Synaptic processes and immune-related pathways implicated in Tourette Syndrome

May 1, 2020

Our paper is now available on MedRXIV. Tsetsos et al. "Synaptic processes and immune-related pathways implicated in Tourette Syndrome".

Our paper among top 10% most downloaded AHG Wiley papers in 2018-2019

April 30, 2020

Our paper on the Genetic history of the population of Crete, published in Annals of Human Genetics, is among the top 10% most downloaded papers in 2018-2019! See Attention Score!

Drineas et al (2019). Genetic History of the population of Crete. Annals of Human Genetics 83(6):373-388. 

 

Cross-disorder GWAS on Tourette Syndrome, ADHD, OCD, and Autism

October 11, 2019

Our study investigating the genetics across Tourette Syndrome and highly comorbid ADHD,OCD, and Autism Spectrum Disorders is available on Biorxiv. We bring together all major genomewide association studies for each of the studied disorders and aim to uncover neurobiology that cuts across traditional diagnostic boundaries.

XXX is invited speaker at 2019 Greater Indiana Society for Neuroscience Meeting

March 22, 2019

XXX presented an overview of most recent findings of large-scale studies on the genetics of Tourette Syndrome at the Greater Indiana SfN 2019 meeting. This annual meeting brings together all major institutions and reseachers working on Neuroscience across Indiana.

Our study is published in the American Journal of Psychiatry

March 1, 2019

XXX is a lead author on the largest genomewide association study for Tourette Syndrome published to date. By analyzing a sample of nearly 5,000 patients with Tourette syndrome and 9,500 controls, we found a genetic variant on chromosome 13 associated with a higher risk for the disease. The findings were published in The American Journal of Psychiatry.

Read the full story here.

XXX named University Faculty Scholar

December 12, 2018

XXX has been named a 2019 University Faculty Scholar for her outstanding interdisciplinary research.  This is one of the highest research honors at Purdue where the University Faculty Scholars Program recognizes outstanding faculty who are on an accelerated path for academic distinction.  

XXX ’s research has paved the way for important discoveries that leverage the strength of big data towards clinical translation and personalized medicine.  In particular, she has been a pioneer in the study of Tourette Syndrome and elucidating the genetic basis of multifactorial neurodevelopmental disorders, uncovering the ancient migration routes of human populations, and uncovering population genetic structure and individual ancestry. 

Our whole genome sequencing study on 800 families with Tourette is published

October 1, 2018

In collaboration with Matt State and Jeremy Willsey from UCSF, the Paschou lab published the largest Tourette Syndrome whole genome sequencing study to date. The study brought togehter the Tourette Syndrome Southern and Eastern Europe Initiative (TSGeneSEE) biobank with the TIC Genetics and TAAICG consortia, allowing analysis of a combined sample of more than 800 trios with Tourette.

Wang et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Discovery Park announces Integrative Data Science Initiative research proposal finalists?

April 27, 2018

Proposal led by XXX is among the selected finalists moving to the second stage. Following a Purdue campus-wide call, finalists represent high-risk, high-payoff interdisciplinary projects on data science.

Purdue Data Science in the Life Sciences Forum

April 20, 2018

XXX leads panel discussion on "Opportunities in basic science - the next wave of omics-enabled research" at the Purdue Data Science in the Life Sciences Forum. Featuring, Todd Michael, professor and director of bioinformatics at the J. Craig Venter Institute, and Eric Stahlberg, Director of high-performance computing at the Frederick National Laboratory for Cancer Research.

2017 World Congress for Psychiatric Genetics: Symposium on Tourette Syndrome

October 14, 2017

XXX chaired an educational symposium at the 2017 World Congress for Psychiatric Genetics on Accelerating Discoveries in Tourette Syndrome Genetics Through Large-Scale Collaborative Efforts. All major consortia working to elucidate the etiology of Tourette Syndrome presented current updates and future prospects.

XXX is awarded NSF grant to study large-scale genomics data

September 1, 2017

XXX is a Co-PI in a NSF award aiming to develop novel algorithms for big data analysis in human genomics. Co-PI Petros Drineas from Purdue CS and XXX will work on "Novel Approaches for Sparse PCA, Matrix Completion, and kernel Discriminant Analysis for Mining Human Genetics Datasets."

The first definitive Tourette Syndrome genes identified

June 22, 2017

XXX is one of the lead authors in a large-scale international study that pinpoints copy number changes that are associated to Tourette Syndrome. The paper appears today in Neuron.

Our study on a unique neurodegenerative phenotype to appear in "Neurobiology of Aging"

March 15, 2016

In collaboration with Prof. Kovacs from the Medical University of Vienna, we present a whole exome sequencing study of a family with a unique neurodegenerative phenotype. (Familial early-onset dementia with complex neuropathological phenotype and genomic background. John Alexander; Ognian Kalev; Shima Mehrabian; Latchezar Traykov; Margariata Raycheva; Dimitrios Kanakis; Petros Drineas; Thomas Ströbel; Thomas Penz; Michael Schuster; Christoph Bock; Isidro Ferrer; Peristera Paschou: Gabor Kovacs, Neurobiology of Aging, in press).

Hands-on Genetic Epidemiology Workshop organised by the Paschou Lab

October 27, 2015

Symposium and hands-on training workshop organised by the Paschou lab: Population Genetic Structure and Genomewide Association Studies. Dr Eleftheria Zeggini  from the Sanger Institute joins us as keynote speaker to introduce us to "Next generation association studies". The full programme is available (PDF).

The first farmers were also sailors!

June 9, 2014

Our study on a "Maritime route of colonization of Europe" appears in the Proceedings of National Academy of Sciences (PNAS). We show for the first time that a prominent route of Neolithic expansion into Europe was through island-hoping from the Anatolian coast. Up until now, a hypothesis of migration by land through the Balkans had mostly been favoured. Our data suggest that Crete and the islands of the Aegean acted as a bridge connecting Anatolia to Southeastern Europe.

XXX receives EXCELLENCE Award (ARISTEIA II) to study the genetic structure of the Greek populations and hellenic diaspora

January 3, 2014

Coordinated by XXX , the proposal entitled «GENOMAP.GR: A genomic reference map of Greece. Studying the structure and history of Greek sub-populations and the Hellenic diaspora was recently funded under the "ARISTEIA II" programme (EXCELLENCE AWARD). The programme "ARISTEIA II" is co-financed by the European Social Fund and National Funds in the framework of the Operational Programme "Education and Lifelong Learning".  

The structure and demographic history of the Greek population is very complex depicting a mosaic of historical events and including Greek sub-groups that maintain distinct traditions and private dialects. This rich history must have contributed to substantial heterogeneity, which remains until now unexplored and is the focus of this study. In collaboration with Dr. George Stamatoyannopoulos, Professor of Genome Sciences at the University of Washington, and Dr. Petros Drineas, Associate Professor of Computer Science at Rensselaer University, XXX will coordinate the creation of a detailed genomic reference map of Greek sub-populations. Analyzing genomewide data,  this study will help document and preserve the history of self-defined Hellenic sub-groups, that are culturally and linguistically unique, but are being lost due to panmixia and population movements. Furthermore, results will have great importance for understanding the history of human migrations into Europe, while the biobank that will be established will prove an invaluable resource for the study of the genetic etiology of complex human disorders in Greece with a potential major impact on public health.

Our study of ancient DNA sheds light into the origin of the Minoans

May 14, 2013

XXX played a central role in a study which appeared today in Nature Communications. Comparing more than 14,000 mitochondrial DNA sequences of 135 ancient and modern populations to ancient samples from the Minoan era (5,000 years before present) the team showed that the Minoans are most closely related to Europeans and not African populations. XXX , who led statistical analysis in collaboration with Dr. Petros Drineas at the Rensselaer Polytechnic Institute, underlines: "The fact that modern day inhabitants of Crete still carry the maternal genetic signature of the Minoans is quite striking." and continues "This study is an excellent example of the power of interdisciplinarity for the study of population genetics." The study was led by Prof. George Stamatoyannopoulos of the University of Washingthon.

XXX joins the Editorial Board of PLOS ONE!

July 1, 2012

XXX just joined the Editorial Board of PLOS ONE as Academic Editor. PLOS ONE is an international, peer-reviewed journal that pioneered open-access and online scientific publications. It welcomes reports on primary research from any scientific discipline, providing they contribute significantly to the base of science. From the position of Academic Editor, XXX would like to invite you to submit your original work and enjoy fast publication times, and a broad audience.

TS-EUROTRAIN: Our proposal for a Marie Curie Initial Traning Network for Tourette Syndrome is successful!

June 16, 2012

XXX is the coordinator of TS-EUROTRAIN: A Marie Curie Initial Training Network for Tourette Syndrome which was just awarded EU support of 3,000,000 Euros. There is a striking lack in structured and standardized training infrastructure for neurodevelopmental disorders across Europe. Such training will be fundamental to promoting standards of care across Europe and will ultimately lead to strategies for the promotion of childhood mental health. Gilles de la Tourette Syndrome (TS), an inherited neuropsychiatric disorder that provides an excellent paradigm for the study and training needs for neurodevelopmental disorders of childhood onset. We will establish a comprehensive interdisciplinary and intersectorial training program in the field of TS and related disorders, that will deliver the next generation of young researchers who will shape the field in Europe and around the world.

TS-EUROTRAIN is coordinated by XXX at the Dept. of Molecular Biology and Genetics, Democritus University of Thrace and the interdisciplinary team includes academic experts from the University of Ulm, the Hannover Medical School, Utrecht University, University Medical Center Groningen, Semmelweis University, and the Kennedy Center. Building bridges between academia and industry, the participation of three partners from the private sector who are leading experts in their fields, will be instrumental in the training that the Early Stage Researchers (ESRs) will receive, providing the insight of the private sector to our ITN (deCODE Genetics, SENSA BV, and Boehringer Ingelheim Pharma GmbH & Co. KG.

The European Society for the Study of TS and COST Action BM0905 host a Tourette Syndrome Awareness Week in Catania, Italy

June 6, 2012

ESSTS and COST Action BM0905, both chaired by XXX , welcome you at a TS Awareness week in the beautiful city of Catania in Sicily, kindly hosted by Prof. Renata Rizzo and the University of Catania. Join us for a Traning School on TS Clinical Instruments, the 2012 ESSTS Annual Meeting and COST International Conference for TS, highlighting the most recent scientific developments in the field of TS. This year, our meetings are open to TS patient groups and the 1st International Meeting of TS Support and Advocacy Groups, is also taking place on Saturday, June 9, bringing together 10 patient groups from across Europe in order to coordinate outreach activities for TS and raise public awareness.

The GR-DIAGENES Consortium receives funding by the EU and Greek programme "Thalis"

October 20, 2011

XXX will coordinate the GR-DIAGENES consortium, supported by the programme THALIS (ESPA and EU funding). The title of the project is "The Genetic Architecture of Type 2 Diabetes in the Greek Population" and the study will aim to establish a large biobank of T2DM as well as a national database for the disorder. The team will aim to elucidate the genetic basis of T2DM susceptibility as well as personalized management and prognosis. Participating insititutions include, the Democritus University of Thrace, the Aristotle University of Thessaloniki, the University of Patras, as well as the Rensselaer Polytechnick Institute and McGill University.

Our work on replicating SLITRK1 association with Tourette Syndrome to appear in Molecular Psychiatry

October 13, 2011

This large scale study represents the collaborative effort of the TSGeneSEE consortium as well as collaborators from Germany and Canada. We find significant association with a SLITRK1 haplotype in a sample of 376 trios with TS (Karagiannidis et al in press). Molecular Psychachiatry is the top journal in the field of Psychiatry and number 4 in Neurosciences.

EMTICS proposal funded by FP7 HEALTH

May 10, 2011

In this largescale multinational effort, which was funded with 6,000,000 Euros, and is coordinated by Pieter Hoekstra from Groningen University, Peristera Paschou will be Head of the Genetics Work Package. She will be leading the efforts to elucidate the genetic background and environmental interactions that lead to the onset of Tourette Syndrome.

Peristera Paschou on sabbatical at the National Institutes of Health

April 10, 2011

XXX will hold a position as an Adjunct Inverstigator at the  National Institute for Child Health and Human Development from April 1 to September 30 2011. Hosted by the NICHD Director, Dr. Constantine Stratakis, she will undertake the analysis of data generated by next generation sequencing technologies, encompassing the whole genome of studied individuals. 

Transferring our algorithms beyond human genetics. Lewis et al. paper appears in PLoS ONE

April 7, 2011

Our algorithms for the identification of population structure informative markers through PCA have received considerable attention from the economically important field of genetics applied on livestock production. In this PLoS ONE paper, Lewis et al. show how our methods can be applied on the bovine HapMap genomewide data in order to select ancestry informative markers. These markers can inform the design of breeding programs and efforts to conserve biodiversity. Furthermore, the SNPs that we have identified can provide a reliable solution for the traceability of breed-specific branded products.

Peristera Paschou is elected the new Chair of the European Society for the Study of Tourette Syndrome

March 29, 2011

At the 2011 Annual Meeting of ESSTS in London (May 13-14), Peristera Paschou was elected Chair of the Society for the next three years. Our sincere thanks to the previous Chair, Hugh Rickards, for his important contributions in bringing the field forward during his presidency.

European clinical guidelines for the diagnosis, assessment and management of Tourette Syndrome published at ECAP

March 29, 2011

As a result of a multinational collaboration, fostered by the European Society for the Study of Tourette Syndrome and the COST Action "European Network for the Study of GTS", this series of four papers that appeared in the Journal of European Child and Adolescent Psychiatry, are an important first step towards the standardization and harmonization of clinical practices for Tourette Syndrome across Europe.

Peristera Paschou receives award for best platform presentation at the 61st Annual Meeting of the Hellenic Society for Biochemistry and Molecular Biology

October 17, 2010

At the 61st Annual Meeting of HSBMB held in Alexandroupoli on October 15-17, XXX received an award for best platfotm presentation, for presenting our results on the genetic structure of the Greek population in relation to the HapMap European reference samples.

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