Global Genomic Medicine Consortium (G2MC)
Young Investigators Abstract Submissions
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| Salutation | Name | Credentials | Organization | Category | Bio | CV | Abstract Title | Keywords | Phone/Mobile | Address | Abstract | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dr. | Christina Tise | MD, PhD | Stanford University | Postdoc Student | Bio PDF | CV PDF | Regions of Homozygosity: Finding the Needle in the Haystack Efficiently & Effectively | regions of homozygosity (ROH), chromosomal microarray, autosomal recessive, homozygous variant, diagnosis | cgtise@stanford.edu | 3026502006 | 105 Paul Avenue, Mountain View, CA, 94041, United States (US) | Abstract PDF | G2MC 6th IC |
| Eduardo Pérez-Palma | PhD | Centro de Genética y Genómica, Universidad del Desarrollo | Junior Faculty | Bio PDF | CV PDF | The Dravet Prediction tool: predicting patient’s phenotypic outcome by combined modeling of SCN1A genetic effects with clinical features | SCN1A, Dravet Syndrome, GEFS+, clinical genetics, Neurodevelopmental disorders | eperezpalma@gmail.com | 950731971 | Avenida Las Condes 12641, Santiago, Metropolitana de Santiago, 7590943, Chile | Abstract PDF | G2MC 6th IC | |
| Mr. | K. L. Jeewantha Hasaranga | Msc | University of Colombo | Graduate Student | Bio PDF | CV PDF | Identification of genetic variants associated with Deep Vein Thrombosis in the Sri Lanka population. | Deep Vein Thrombosis, Sri Lankan population, T-ARMS PCR, CYP4V2, Factor 5 | hasaranga@hotmail.com | +94773561687 | Ranga Sri, No. 189/C, Edmond mawatha,, Eluwila, Panadura, 12500, Sri Lanka | Abstract PDF | G2MC 6th IC |
| Ms | Thillainathan Kobika | BSc, MSc (Reading) | University of Jaffna | Lecturer | Bio PDF | CV PDF | A study of the clinically important CYP2C19 gene variants in the Sri Lankan Population | CYP2C19, variants, Sri Lankan population, T-ARMS-PCR, pharmacogenomics | kosthima@gmail.com | 6/1, 2/1, Dr. E. A. Cooray Mawatha,, Colombo 06, Sri Lanka | Abstract PDF | G2MC 6th IC | |
| Megan Lynch | B.S. | University of Maryland, Baltimore | Graduate Student | Bio PDF | CV PDF | Impact of Genetic Relatedness of Parents on Reproductive Outcomes | Reproductive Health, Kinship, Genetic Association, Founder Effect, Recessive | mlynch@som.umaryland.edu | 4842418719 | 807 West Barre St., Baltimore, Maryland, 21230, United States (US) | Abstract PDF | G2MC 6th IC | |
| Ms | Deepthi Edirisinghe | BSc (Hons.) | University of Colombo | Graduate Student | Bio PDF | CV PDF | Design 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 PCR | emdtharika@gmail.com | +94703564549 | 463/2, Weera Mawatha, Depanama, Pannipitiya,, Colombo, Western Province, 10230, Sri Lanka | Abstract PDF | G2MC 6th IC |
| Dr | Saman PEDURU HEWA | MD | Colombo South Teaching Hospital | Senior Investigators new to Genomic Medicine (within past 2 years) | Bio PDF | CV PDF | DESIGN AND IMPLEMENTATION OF A NOVEL PCR ASSAY FOR A SELECTED PCSK9 VARIANT ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLAEMIA | Familial Hypercholesterolemia, PCSK9, allele, genotype | samanchempath@gmail.com | 18/2, Wickrama mawatha, Panadura, Western, 25000, Sri Lanka | Abstract PDF | G2MC 6th IC | |
| Ms | Catalina Lagos | MSc | Universidad del Desarrollo | Graduate Student | Bio PDF | CV PDF | Diagnosis rate of Clinical Exome Sequencing and Whole Exome Sequencing in rare diseases: A comparative approach | Genetic testing, Rare variants, Exome | catalinalagos@udd.cl | +56974929025 | Avenida Las Condes 12438, Santiago, Región Metropolitana, 7710162, Chile | Abstract PDF | G2MC 6th IC |
| Dr | Emma Rey-Jurado | Ph.D | Universidad del Desarrollo | Junior Faculty | Bio PDF | CV PDF | Proposed algorithm for primary immunodeficiency disorders | primary immunodeficiency disorders, genetic diagnosis, next generation sequencing | emmarey@udd.cl | Av. las condes 12461, Santiago, Chile | Abstract PDF | G2MC 6th IC | |
| Dr | Atanu Dutta | M.D | All India Institute of Medical Sciences, Kalyani | Junior Faculty | Bio PDF | CV PDF | Estimating the burden of Inborn Errors of Metabolism in South Asia | Inborn Error of Metabolism, gnomAD, ClinVar, Birth prevalence, Carrier frequency | atanu.biochem@aiimskalyani.edu.in | +918967369455 | Department of Biochemistry; Second Floor; Medical College Building, All India Institute of Medical Sciences, Kalyani; Basantapur, Kalyani, West Bengal, 741245, India | Abstract PDF | G2MC 6th IC |
| Ms | Fernanda Martin | M.D. | Hospital Clínico Universidad de Chile | Graduate Student | Bio PDF | CV PDF | Temple syndrome as a differential diagnosis in Chilean population with suspected Silver Russell syndrome | Temple syndrome, Silver Russell syndrome, MS-MLPA, 14q32, UPD14 | fda.martinm@gmail.com | 56991296216 | Avenida Holanda 1860, depto 405, Santiago, Región Metropolitana, Chile | Abstract PDF | G2MC 6th IC |
| Dr | Francyne Kubaski | Ph.D. | UFRGS/HCPA/INAGEMP | Postdoc Student | Bio PDF | CV PDF | Approaching Clusters of Mucopolysaccharidoses in Latin America with Population Medical Genetics Tools | Population medical genetics, mucopolysaccharidoses, clusters, lysosomal storage disorders, inborn errors of metabolism. | fkubaski@udel.edu | +5551995740673 | 2350 Ramiro Barcelos, Medical Genetics Service, Porto Alegre, Brazil | Abstract PDF | G2MC 6th IC |
| Dr | Tania Vasquez Loarte | MD MPH | University of Washington | Postdoc Student | Bio PDF | CV PDF | ETHICAL CONCERNS ABOUT IN UTERO GENE EDITING FOR PEOPLE WITH HEMOPHILIA | gene therapy, gene editing, bioethics, hemophilia | taniavasquezloarte@gmail.com | 2066981367 | 2622 169th St, none, Flushing, NY, 11358, United States (US) | Abstract PDF | G2MC 6th IC |
| Ms | Nethme Wickramarathne | Bsc | Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka | Graduate Student | Bio PDF | CV PDF | Design and Implementation of an assay for genetic variants associated with Non deletion Alpha Thalassemia in a cohort of Sri Lankan population | T-ARMS PCR, Non-deletion Alpha-thalassemia, HBA2:c.377 T>C, HBA2:c.179 G>A, | nethmi.chamathka@gmail.com | +94 770521241 | 99/81c, park avenue,, Ivory Gardens, Kandana, Western, 11320, Sri Lanka | Abstract PDF | G2MC 6th IC |
| Ms | Evelin González | B.S. | Universidad del Desarrollo | Senior Investigators new to Genomic Medicine (within past 2 years) | Bio PDF | CV PDF | A Chilean population database of exon-level genetic variability. | population genetics, variant database, crowdsourcing, whole-exome sequencing | evefeliu@gmail.com | 949160632 | 28 oriente 6 sur, Talca, 07 Región del Maule, 3460000, Chile | Abstract PDF | G2MC 6th IC |
| Mrs | María Isabel Matute-Willemsen | MPH | Universidad del Desarrollo | Graduate Student | Bio PDF | CV PDF | Quality 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 Life | mimatute@udd.cl | +56983963103 | Las Condes 12438, Santiago, Lo Barnechea, 7690000, Chile | Abstract PDF | G2MC 6th IC |
| Tania Vasquez Loarte | MD MPH | NA | Postdoc Student | Bio PDF | CV PDF | Impact of COVID19 on the access to healthcare services for children with Down Syndrome | Down Syndrome, Health Services, Covid19, inequality | taniavasquezloarte@gmail.com | 12066981367 | 26-22 169th St, Flushing, NY, 11358, United States (US) | Abstract PDF | G2MC 6th IC | |
| Boris Rebolledo-Jaramillo | Ph.D. | Universidad del Desarrollo | Assistant Professor | Bio PDF | CV PDF | Contribution of mitonuclear mismatch to disease in Latin- American admixed patients. | mitonuclear ancestry LatinAmerica mitochondria | brebolledo@udd.cl | Av. Las Condes 12438, Santiago, Región Metropolitana, 7710162, Chile | Abstract PDF | G2MC 6th IC | ||
| Doctor | Sok Kun Tae | MBBS, RCPCH | University Malaya | Lecturer | Bio PDF | CV PDF | Development and Acceptability Testing of a Patient Decision Aid for Prenatal Testing Amongst Asian Women and Their Spouses in the ASEAN region | patient decision aid, prenatal screening test, prenatal diagnostic test, Asian women, spouse | sokkun@ummc.edu.my | +60129816742 | Department of Paediatrics, Faculty of Medicine, University of Malaya, Jln Professor Diraja Ungku Aziz, Kuala Lumpur, Kuala Lumpur, WILAYAH PERSEKUTUAN KUALA LUMPUR, 50603, Malaysia | Abstract PDF | G2MC 6th IC |
| Dr | Rodrigo Andaur | Ph.D | Comisión Chilena de Energía Nuclear | Postdoc Student | Bio PDF | CV PDF | RBBP5 protein is associated with poor survival in breast invasive carcinoma through desregulation of DNA damage genes | RBBP5, breast cancer, DNA damage, methyltransferase, predict genes expression | randaur@med.uchile.cl | Nueva Bilbao 12501, Las Condes., Santiago, Chile | Abstract PDF | G2MC 6th IC | |
| Dra | Maria Jesus Zavala Abraham | M.D | Hospital Universidad de Chile | Graduate Student | Bio PDF | CV PDF | The importance of the clinical reanalysis of whole exome sequencing data: discovery of a pathogenic variant in the SETD1A gene | Keywords: Reanalysis, exome, sequencing, variant of uncertain significance | mjesus.89@gmail.com | +56977284261 | Dr. Carlos Lorca Tobar 999, Santiago de Chile, Chile | Abstract PDF | G2MC 6th IC |
| Dr | Joselito Sobreira | MD | DASA | Senior Investigators new to Genomic Medicine (within past 2 years) | Bio PDF | CV PDF | Rapid whole genome sequencing in the neonatal intensive care unit of Brazilian hospitals. | Rapid whole genome sequencing; intensive care unit | sobreira.joselito@gmail.com | 55 81 99969-1177 | Rua Paula Ney, 480, São Paulo, São Paulo, 04107-021, Brazil | Abstract PDF | G2MC 6th IC |
| Ms | REMYA SYAMALA | MSc | University of Colombo | Graduate Student | Bio PDF | CV PDF | Comprehensive study on molecular characterization of somatic genomic variants, circulating tumor DNA and gut microbiota associated with colorectal cancer | Colorectal Cancer, Bio marker, ctDNA, Micro biota, somatic variations | remiyakrish@gmail.com | +94768706609 | Human Genitics Unit, Faculty of Medicine, Kynsey Road, Colombo, Western Province, Sri Lanka | Abstract PDF | G2MC 6th IC |
| Ms | Carla Campaña | MsC | Universidad del Desarro | Graduate Student | Bio PDF | CV PDF | Therapeutic trajectories of patients and families with rare diseases: a narrative literature review | Rare disease, patient trajectory, patient odyssey, health system. | cacampanac@udd.cl | Avenida Las Condes 12.461, Santiago, Chile | Abstract PDF | G2MC 6th IC | |
| Dr | Mehul Mistri | Ph.D | Neuberg Centre for Genomic Medicine | Postdoc Student | Bio PDF | CV PDF | Clinical, 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 sequencing | mistrimehul@yahoo.co.in | +91-9913345194 | 4th Floor, Kedar building, Near Parimal Garden, Ahmedabad, Gujarat, 380006, India | Abstract PDF | G2MC 6th IC |
| Dr | Eduardo Pérez-Palma | Ph.D | Centro de Genética y Genómica, Universidad del Desarrollo | Junior Faculty | Bio PDF | CV PDF | Genomic 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 counseling | eperezpalma@gmail.com | 950731971 | Apoquindo 6797, Depto 606, Torre 2, Las Condes, Santiago, Metropolitana de Santiago, 7570003, Chile | Abstract PDF | G2MC 6th IC |
| Dr | Momodou Wuri Jallow | Ph.D. | Regeneron Genetic Center | Postdoc Student | Bio PDF | CV PDF | The impact of common TMPRSS6 gene variants on iron status of pregnant women from rural Gambian | TMPRSS6 SNPs, Iron biomarkers, Pregnant women, Anemia | momodou.jallow@alumni.lshtm.ac.uk | +2207710693 | 777 Old Saw Mill River Road, Tarrytown, New York, United States (US) | Abstract PDF | G2MC 6th IC |
| Mrs | Constanza Vargas | M.D | University of Technology Sydney | Junior Faculty | Bio PDF | CV PDF | Values and preferences for the development of a funding model for rare and rare undiagnosed diseases | genetic testing, health technology assessment, funding models | constanza.vargas@chere.uts.edu.au | +61450362723 | 54 Meeks st, Sydney, NSW, 2032, Australia | Abstract PDF | G2MC 6th IC |
| Dr. | POORNI FERNANDO | MBBS | University of Colombo, Sri Lanka | Graduate Student | Bio PDF | CV PDF | A 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 | +94766090180 | No. 104/10A, De Mel Watta Road,, Koswatta,, Rajagiriya, Western Province, Sri Lanka | Abstract PDF | G2MC 6th IC |