Young Investigators Abstract Submissions

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SalutationNameCredentials OrganizationCategoryBioCVAbstract TitleKeywordsEmailPhone/MobileAddressAbstract
Dr.Christina TiseMD, PhDStanford UniversityPostdoc StudentBio PDFCV PDFRegions of Homozygosity: Finding the Needle in the Haystack Efficiently & Effectivelyregions of homozygosity (ROH), chromosomal microarray, autosomal recessive, homozygous variant, diagnosiscgtise@stanford.edu3026502006105 Paul Avenue, Mountain View, CA, 94041, United States (US)Abstract PDFG2MC 6th IC
Eduardo Pérez-PalmaPhDCentro de Genética y Genómica, Universidad del DesarrolloJunior FacultyBio PDFCV PDFThe Dravet Prediction tool: predicting patient’s phenotypic outcome by combined modeling of SCN1A genetic effects with clinical featuresSCN1A, Dravet Syndrome, GEFS+, clinical genetics, Neurodevelopmental disorderseperezpalma@gmail.com950731971Avenida Las Condes 12641, Santiago, Metropolitana de Santiago, 7590943, ChileAbstract PDFG2MC 6th IC
Mr.K. L. Jeewantha HasarangaMscUniversity of ColomboGraduate StudentBio PDFCV PDFIdentification of genetic variants associated with Deep Vein Thrombosis in the Sri Lanka population.Deep Vein Thrombosis, Sri Lankan population, T-ARMS PCR, CYP4V2, Factor 5hasaranga@hotmail.com+94773561687Ranga Sri, No. 189/C, Edmond mawatha,, Eluwila, Panadura, 12500, Sri LankaAbstract PDFG2MC 6th IC
MsThillainathan KobikaBSc, MSc (Reading)University of JaffnaLecturerBio PDFCV PDFA study of the clinically important CYP2C19 gene variants in the Sri Lankan PopulationCYP2C19, variants, Sri Lankan population, T-ARMS-PCR, pharmacogenomicskosthima@gmail.com6/1, 2/1, Dr. E. A. Cooray Mawatha,, Colombo 06, Sri LankaAbstract PDFG2MC 6th IC
Megan LynchB.S.University of Maryland, BaltimoreGraduate StudentBio PDFCV PDFImpact of Genetic Relatedness of Parents on Reproductive OutcomesReproductive Health, Kinship, Genetic Association, Founder Effect, Recessivemlynch@som.umaryland.edu4842418719807 West Barre St., Baltimore, Maryland, 21230, United States (US)Abstract PDFG2MC 6th IC
MsDeepthi EdirisingheBSc (Hons.)University of ColomboGraduate StudentBio PDFCV PDFDesign and implementation of a novel assay for a selected SERPINC1gene variant in a cohort of Portal Vein Thrombosis patients in the Sri Lankan population.PVT, Thrombosis, SERPINC1, Anti-thrombin, T-ARMS PCRemdtharika@gmail.com+94703564549463/2, Weera Mawatha, Depanama, Pannipitiya,, Colombo, Western Province, 10230, Sri LankaAbstract PDFG2MC 6th IC
DrSaman PEDURU HEWAMDColombo South Teaching HospitalSenior Investigators new to Genomic Medicine (within past 2 years)Bio PDFCV PDFDESIGN AND IMPLEMENTATION OF A NOVEL PCR ASSAY FOR A SELECTED PCSK9 VARIANT ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLAEMIAFamilial Hypercholesterolemia, PCSK9, allele, genotypesamanchempath@gmail.com18/2, Wickrama mawatha, Panadura, Western, 25000, Sri LankaAbstract PDFG2MC 6th IC
MsCatalina LagosMScUniversidad del DesarrolloGraduate StudentBio PDFCV PDFDiagnosis rate of Clinical Exome Sequencing and Whole Exome Sequencing in rare diseases: A comparative approachGenetic testing, Rare variants, Exomecatalinalagos@udd.cl+56974929025Avenida Las Condes 12438, Santiago, Región Metropolitana, 7710162, ChileAbstract PDFG2MC 6th IC
DrEmma Rey-JuradoPh.DUniversidad del DesarrolloJunior FacultyBio PDFCV PDFProposed algorithm for primary immunodeficiency disordersprimary immunodeficiency disorders, genetic diagnosis, next generation sequencingemmarey@udd.clAv. las condes 12461, Santiago, ChileAbstract PDFG2MC 6th IC
DrAtanu DuttaM.DAll India Institute of Medical Sciences, KalyaniJunior FacultyBio PDFCV PDFEstimating the burden of Inborn Errors of Metabolism in South AsiaInborn Error of Metabolism, gnomAD, ClinVar, Birth prevalence, Carrier frequencyatanu.biochem@aiimskalyani.edu.in+918967369455Department of Biochemistry; Second Floor; Medical College Building, All India Institute of Medical Sciences, Kalyani; Basantapur, Kalyani, West Bengal, 741245, IndiaAbstract PDFG2MC 6th IC
MsFernanda MartinM.D.Hospital Clínico Universidad de ChileGraduate StudentBio PDFCV PDFTemple syndrome as a differential diagnosis in Chilean population with suspected Silver Russell syndromeTemple syndrome, Silver Russell syndrome, MS-MLPA, 14q32, UPD14fda.martinm@gmail.com56991296216Avenida Holanda 1860, depto 405, Santiago, Región Metropolitana, ChileAbstract PDFG2MC 6th IC
DrFrancyne KubaskiPh.D.UFRGS/HCPA/INAGEMPPostdoc StudentBio PDFCV PDFApproaching Clusters of Mucopolysaccharidoses in Latin America with Population Medical Genetics ToolsPopulation medical genetics, mucopolysaccharidoses, clusters, lysosomal storage disorders, inborn errors of metabolism.fkubaski@udel.edu+55519957406732350 Ramiro Barcelos, Medical Genetics Service, Porto Alegre, BrazilAbstract PDFG2MC 6th IC
DrTania Vasquez LoarteMD MPHUniversity of WashingtonPostdoc StudentBio PDFCV PDFETHICAL CONCERNS ABOUT IN UTERO GENE EDITING FOR PEOPLE WITH HEMOPHILIAgene therapy, gene editing, bioethics, hemophiliataniavasquezloarte@gmail.com20669813672622 169th St, none, Flushing, NY, 11358, United States (US)Abstract PDFG2MC 6th IC
MsNethme WickramarathneBscHuman Genetics Unit, Faculty of Medicine, University of Colombo, Sri LankaGraduate StudentBio PDFCV PDFDesign and Implementation of an assay for genetic variants associated with Non deletion Alpha Thalassemia in a cohort of Sri Lankan populationT-ARMS PCR, Non-deletion Alpha-thalassemia, HBA2:c.377 T>C, HBA2:c.179 G>A,nethmi.chamathka@gmail.com+94 77052124199/81c, park avenue,, Ivory Gardens, Kandana, Western, 11320, Sri LankaAbstract PDFG2MC 6th IC
MsEvelin GonzálezB.S.Universidad del DesarrolloSenior Investigators new to Genomic Medicine (within past 2 years)Bio PDFCV PDFA Chilean population database of exon-level genetic variability.population genetics, variant database, crowdsourcing, whole-exome sequencingevefeliu@gmail.com94916063228 oriente 6 sur, Talca, 07 Región del Maule, 3460000, ChileAbstract PDFG2MC 6th IC
MrsMaría Isabel Matute-WillemsenMPHUniversidad del DesarrolloGraduate StudentBio PDFCV PDFQuality of life and self-perceived needs in informal caregivers of patients with rare diseases: generating evidence for public policies in Chile.Rare Diseases, Caregivers, Public Health Policy, Quality of Lifemimatute@udd.cl+56983963103Las Condes 12438, Santiago, Lo Barnechea, 7690000, ChileAbstract PDFG2MC 6th IC
Tania Vasquez LoarteMD MPHNAPostdoc StudentBio PDFCV PDFImpact of COVID19 on the access to healthcare services for children with Down SyndromeDown Syndrome, Health Services, Covid19, inequalitytaniavasquezloarte@gmail.com1206698136726-22 169th St, Flushing, NY, 11358, United States (US)Abstract PDFG2MC 6th IC
Boris Rebolledo-JaramilloPh.D.Universidad del DesarrolloAssistant ProfessorBio PDFCV PDFContribution of mitonuclear mismatch to disease in Latin- American admixed patients.mitonuclear ancestry LatinAmerica mitochondriabrebolledo@udd.clAv. Las Condes 12438, Santiago, Región Metropolitana, 7710162, ChileAbstract PDFG2MC 6th IC
DoctorSok Kun TaeMBBS, RCPCHUniversity MalayaLecturerBio PDFCV PDFDevelopment and Acceptability Testing of a Patient Decision Aid for Prenatal Testing Amongst Asian Women and Their Spouses in the ASEAN regionpatient decision aid, prenatal screening test, prenatal diagnostic test, Asian women, spousesokkun@ummc.edu.my+60129816742Department of Paediatrics, Faculty of Medicine, University of Malaya, Jln Professor Diraja Ungku Aziz, Kuala Lumpur, Kuala Lumpur, WILAYAH PERSEKUTUAN KUALA LUMPUR, 50603, MalaysiaAbstract PDFG2MC 6th IC
DrRodrigo AndaurPh.DComisión Chilena de Energía NuclearPostdoc StudentBio PDFCV PDFRBBP5 protein is associated with poor survival in breast invasive carcinoma through desregulation of DNA damage genesRBBP5, breast cancer, DNA damage, methyltransferase, predict genes expressionrandaur@med.uchile.clNueva Bilbao 12501, Las Condes., Santiago, ChileAbstract PDFG2MC 6th IC
DraMaria Jesus Zavala AbrahamM.DHospital Universidad de ChileGraduate StudentBio PDFCV PDFThe importance of the clinical reanalysis of whole exome sequencing data: discovery of a pathogenic variant in the SETD1A geneKeywords: Reanalysis, exome, sequencing, variant of uncertain significancemjesus.89@gmail.com+56977284261Dr. Carlos Lorca Tobar 999, Santiago de Chile, ChileAbstract PDFG2MC 6th IC
DrJoselito SobreiraMDDASASenior Investigators new to Genomic Medicine (within past 2 years)Bio PDFCV PDFRapid whole genome sequencing in the neonatal intensive care unit of Brazilian hospitals.Rapid whole genome sequencing; intensive care unitsobreira.joselito@gmail.com55 81 99969-1177Rua Paula Ney, 480, São Paulo, São Paulo, 04107-021, BrazilAbstract PDFG2MC 6th IC
MsREMYA SYAMALAMScUniversity of ColomboGraduate StudentBio PDFCV PDFComprehensive study on molecular characterization of somatic genomic variants, circulating tumor DNA and gut microbiota associated with colorectal cancerColorectal Cancer, Bio marker, ctDNA, Micro biota, somatic variationsremiyakrish@gmail.com+94768706609Human Genitics Unit, Faculty of Medicine, Kynsey Road, Colombo, Western Province, Sri LankaAbstract PDFG2MC 6th IC
MsCarla CampañaMsCUniversidad del DesarroGraduate StudentBio PDFCV PDFTherapeutic trajectories of patients and families with rare diseases: a narrative literature reviewRare disease, patient trajectory, patient odyssey, health system.cacampanac@udd.clAvenida Las Condes 12.461, Santiago, ChileAbstract PDFG2MC 6th IC
DrMehul MistriPh.DNeuberg Centre for Genomic MedicinePostdoc StudentBio PDFCV PDFClinical, biochemical and molecular characterizations of lysosomal storage disorders (LSDs) in India: The initiative to implement NGS based screening for LSDs.Lysosomal storage disorder, Whole-exome sequencingmistrimehul@yahoo.co.in+91-99133451944th Floor, Kedar building, Near Parimal Garden, Ahmedabad, Gujarat, 380006, IndiaAbstract PDFG2MC 6th IC
DrEduardo Pérez-PalmaPh.DCentro de Genética y Genómica, Universidad del DesarrolloJunior FacultyBio PDFCV PDFGenomic medicine in motion – Expanding genomic medicine awareness in Latin America using dynamic motion graphics capsules for patients and their families.genomic medicine, patient education, motion graphics, genetic counselingeperezpalma@gmail.com950731971Apoquindo 6797, Depto 606, Torre 2, Las Condes, Santiago, Metropolitana de Santiago, 7570003, ChileAbstract PDFG2MC 6th IC
DrMomodou Wuri JallowPh.D.Regeneron Genetic CenterPostdoc StudentBio PDFCV PDFThe impact of common TMPRSS6 gene variants on iron status of pregnant women from rural GambianTMPRSS6 SNPs, Iron biomarkers, Pregnant women, Anemiamomodou.jallow@alumni.lshtm.ac.uk+2207710693777 Old Saw Mill River Road, Tarrytown, New York, United States (US)Abstract PDFG2MC 6th IC
MrsConstanza VargasM.DUniversity of Technology SydneyJunior FacultyBio PDFCV PDFValues and preferences for the development of a funding model for rare and rare undiagnosed diseasesgenetic testing, health technology assessment, funding modelsconstanza.vargas@chere.uts.edu.au+6145036272354 Meeks st, Sydney, NSW, 2032, AustraliaAbstract PDFG2MC 6th IC
Dr.POORNI FERNANDOMBBSUniversity of Colombo, Sri LankaGraduate StudentBio PDFCV PDFA descriptive study of the genetic aetiology of rare undiagnosed disorders in a cohort of Sri Lankan patients.Rare undiagnosed disorders, Whole Exome Sequencing, novel variants.poornisfernando@gmail.com+94766090180No. 104/10A, De Mel Watta Road,, Koswatta,, Rajagiriya, Western Province, Sri LankaAbstract PDFG2MC 6th IC