Presentations

Upcoming presentations

Mapping parent-of-origin methylation pattern during development by long-read 5-base HiFi sequencing reveals novel imprinting motifs and insight into human disease
Elin Grundberg
American Society of Human Genetics Annual Meeting, Denver, CO
November 9th, 2024 

Genomic Answers for Kids: Advancing rare disease research through collaborative innovation
Scott Younger
Annual Convention, Missouri Hospital Association, Kansas City, MO
November 14th, 2024

Recent presentations

High Resolution Assessment of Rare Genetic Disease
Tomi Pastinen
Event LRUA 24, Long Read Sequencing Uppsala, Uppsala, Sweden
October 22nd, 2024

Mapping Parent-of-Origin Methylation by long-read sequencing reveals novel imprinting and insight into disease
Elin Grundberg
Long Read Sequencing Uppsala Meeting, Uppsala, Sweden
October 21st , 2024

Preclinical development of personalized ASO therapeutics using patient-derived organoid systems
Scott Younger
Annual Meeting, Oligonucleotide Therapeutics Society, Montreal, QC, Canada
October 6th, 2024

Rural Rare Healthcare (panel)
Ana Cohen
Global Genes, RARE Health Equity Forum, Kansas City, MO

Complete placental genome sequencing: functional signatures and developmental determinants of disease
Elin Grundberg
Annual Conference of the International Federation of Placenta Associations

Scalable approaches for modeling rare disease in patient-derived organoid systems
Scott Younger
Precision Child Health: from Technology to Translation, Nature Conferences, SickKids Research Institute, Toronto, ON, Canada

A Genetic Counselor’s Guide to Long-Read Sequencing: Preparing for the Future of Genomic Medicine
Emily Farrow, Cassandra Barrett, Courtney Berrios
Plenary Session, 2024 National Society of Genetic Counselors Annual Conference, New Orleans, LA

Rare Voices: Engaging the Community to Inform the Development of Research
Courtney Berrios and Annette Campbell (Rare Voices advisory group member)
Society for Craniofacial Genetics and Developmental Biology Annual Meeting, Kansas City, MO

Expanding Access to Genetic Testing to Rural Populations
Anna Sequerra Amram Cohen
Podcast: Transformational Pediatrics

Bringing Genome Sequencing to Rural Populations
Ana Sequerra Amram Cohen
Podcast: RARECast 

Large-scale HiFi-GS for Pediatric Rare Disease
Tomi Pastinen
Genetics Grand Rounds at the SickKids Hospital with joint expert panel discussion hosted by the SickKids Precision Child Health (PCH) initiative as part of the PCH Thought Leadership Series, Toronto, ON, Canada
June 20th, 2024

Unveiling the Power of HiFi Genome Sequencing as a First-Line Clinical Test
Isabelle Thiffault
The Festival of Genomics and Biodata, Boston, MA
June 12th to 13th, 2024

Transforming Pediatric Medical Genomics: HiFi Sequencing’s Impact at Children’s Mercy
Tomi Pastinen
Invited Keynote Address at PacBio Prism Asia, Bangkok, Thailand
June 11th, 2024

Empowering Precision Medicine: The Paradigm shift of HiFi Genome Sequencing as a First-Line Clinical Test
Isabelle Thiffault
PacBio Prism 2024, Boston, MA
May 21st, 2024

Scalable approaches for modeling rare disease in patient-derived organoid systems
Scott Younger
Science Collective Webinar Series, MRI Global
May 17th, 2024

Identifying and Overcoming the Obstacles That Limit the Rate of Diagnosis: The Impact of HiFi Long-Read Sequencing on the Diagnosis and Discovery of Rare Diseases
Isabelle Thiffault
L’hopital pour enfants Ste-Justine, Universite de Montreal, Scientific Reunion de Medicine Genetique 
May 14th, 2024

Keynote Lecture – Clinical Impact of HiFi-GS
Tomi Pastinen
2024 JAX Long-Read Sequencing Workshop
May 13th to 16th, 2024

Patient-derived Cellular Models at CMRI
Scott Younger
Research Month at Children’s Mercy
May 10th, 2024

Panels vs Exomes vs Genomes: Different Perspectives
Tricia Zion
Curating the Clinical Genome, ClinGen Conference, Baltimore, MD
May 9th -10th, 2024

Genomics in Kids by HiFi-GS
Tomi Pastinen
PacBio Prism 2024, Houston, TX
May 8th, 2024

Keynote Lecture – Genomic Answers for Kids: From Research to Clinical Implementation
Tomi Pastinen
2024 Center for Genomic Medicine Symposium, University of Utah, Salt Lake City, UT
May 6th, 2024

Tapping into Emerging Technologies
Tomi Pastinen
Identifying Research Priorities to Accelerate Genetic Diagnosis Workshop, NIH/NHGRI, Bethesda, MD
April 16th, 2024

Genomic Answers for Kids – data, tools, and analytical strategies enabling continued diagnostic discovery
Craig Smail
Genomics of Rare Disease Conference, Wellcome Connecting Science, poster presentation
March 25th to 27th, 2024

How Many Lost Diagnoses? Addressing Inequitable Access to Genomic Testing for Rare Diseases in Rural Populations
Ana Cohen
2024 ACMG Annual Clinical Genetics Meeting, poster presentation
March 15th, 2024

Unveiling the power of HiFi genome sequencing: one test to rule them all?
Emily Farrow
American College of Medical Genetics Annual Meeting
March 13th to 15th, 2024

Expanding Genomic Testing to Underserved Pediatric Populations
Ana Cohen
2024 Frontiers Research Symposium
March 6th, 2024

Panel Discussion: Key opinion leaders in DNA sequencing
Tomi Pastinen
44th TD Cowen Annual Health Conference
March 4th, 2024

Empowering Precision Medicine: The Pradigm Shift of of HiFi Genome Sequencing as a First-Line Clinical Test
Isabelle Thiffault
Advances in Genome Biology and Technology General Meeting, Marco Island, FL
February 8th, 2024

Contemporary Solutions for Diagnostic Odysseys and Beyond
Tomi Pastinen
Institute of Human Genetics, Hannover School of Medicine, Hannover, Germany
November 16, 2023

Rapid and scalable preclinical evaluation of personalized antisense oligonucleotides using organoids derived from rare disease patients
Scott Younger
Midwest Symposium on Oligonucleotide Therapeutics
November 12, 2023

First Comprehensive Genetic Test: The Impact of HiFi Sequencing on Diagnoses and Variant Discovery
Tomi Pastinen
Developments in Genome Analysis: Research and Clinical Applications, University of Toronto Medical Genomics Mini-Conference
November 7, 2023

Genomics for Childhood Rare Disease
Tomi Pastinen
UNMC Child Health Research Institute Conference Keynote / Grand Rounds Children’s Nebraska Presentation
November 3, 2023

Integrating polygenic scores and long-read genome sequencing to identify clinically-relevant structural variants in rare diseases
Cas LeMaster
American Society of Human Genetics Annual Meeting
November 1-5, 2023

Simplifying Clinical Genetic Testing: The Impact of HiFi Sequencing on Diagnoses and Variant Discovery 
Emily G Farrow
American Society of Human Genetics Annual Meeting
November 1-5, 2023

Driving Diagnostic Advancements in Rare Diseases: Genomic Answers for More Kids 
Ana SA Cohen
American Society of Human Genetics Annual Meeting
November 1-5, 2023

Modeling and characterizing development of transposition of the great arteries using patient-derived iPSC cardiac organoids
Marissa Keever-Keigher
American Society of Human Genetics Annual Meeting
November 1-5, 2023

Engaging Communities from the Beginning: Developing a Community-Led Pediatric Rare Disease Research Agenda
Courtney Berrios
World Congress on Genetic Counselling, Wellcome Genome Campus and Virtual
Oct. 26, 2023

Scalable approaches for modeling rare disease in organoid systems
Scott Younger, PhD
Pacific Northwest Research Institute Seminar
Oct. 18, 2023

Driving Diagnostic Advancements: Updates from Genomic Answers for Kids Study
Isabelle Thiffault
Collaborate2Cure
August 3rd, 2023

Insight from Genomic Answers for Kids: A single center experience on mitochondrial disorders
Isabelle Thiffault
HCMM Mitochondrial Meeting
July 25th, 2023

Sequencing: At a Momentous Point – What Happens Next?
Tomi Pastinen
2nd Annual Tools / Dx Revolution
June 27th, 2023

Environmental trigger or genetic predisposition: reading disease risk from the genome 
Elin Grundberg
Three decades of genomics: From PCR to Precision Medicine
April 25-26, 2023

Systematic assessment of polygenic score associations in a large-scale, phenotypically diverse pediatric rare disease cohort
Craig Smail, PhD
Genomics of Rare Disease Conference, Cambridge, UK
Apr. 26, 2023

Genomics of Rare and Functional Variants in Childhood Disease
Tomi Pastinen
UTHealth Houston, Obstetrics & Gynecology and Pediatrics Grand Rounds
May 16, 2023

Preclinical evaluation of personalized ASOs using patient-derived organoid models
Scott Younger, PhD
Children’s Hospital of Orange County and UC Irvine Rare Disease Symposium and Family Conference
Mar. 10, 2023

Rare and Functional Variants in Disease
Tomi Pastinen, MD, PhD
8th McGill-Kyoto Training Course and Symposium, Kyoto, Japan
Mar. 4th, 2023

Patient-Centered Research in Rare Disease
Courtney Berrios
Impact of Rare Disease – Patient and Family Voices, Collaborate2Cure
Feb. 28th, 2023

Genomics of rare and functional variants in disease
Tomi Pastinen, MD, PhD
University of Washington, Department of Genome Sciences webinar
Jan. 4, 2023

Scalable approaches for modeling rare disease in organoid systems
Scott Younger, PhD
Johns Hopkins McKusick-Nathans Institute for Genetic Medicine webinar
Jan. 18, 2023

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren Cheung, PhD, MSc
ASHG Genetics and Genomics Digital Forum
Nov. 15-16, 2022

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Tomi Pastinen, MD, PhD
Association for Molecular Pathology Annual Meeting
Nov. 4, 2022

The Role of Host Genomics and Transcriptomics in Infectious Disease Outcomes
Elin Grundberg, PhD
Association for Molecular Pathology Annual Meeting
Nov. 4, 2022

Navigating the complex genetic landscape of neurodevelopmental disorders
Craig Smail, PhD, Session Moderator
American Society of Human Genetics Annual Meeting
Oct. 27, 2022

Pangenome graphs for the analysis of rare genetic diseases
Cristian Groza
Platform Presentation (top 10% of abstracts), American Society of Human Genetics Annual Meeting, Los Angeles, Calif.
Special recognition: ASHG Epstein Award Predoctoral Semifinalist for Presenting author Groza (collaborative work with McGill University led by CMKC)
Oct. 25-29, 2022

Rapid and scalable preclinical evaluation of personalized antisense oligonucleotides using organoids derived from rare disease patients
Scott Younger, PhD
Featured Plenary (top 1% of abstracts), American Society of Human Genetics Annual Meeting, Los Angeles, Calif.
Oct. 25-29, 2022

Insurance Denials and Diagnostic Rates in a Pediatric Genomic Research Cohort
Tricia Zion, MS, CGC
Platform Presentation (top 10% of abstracts), American Society of Human Genetics Annual Meeting, Los Angeles, Calif.
Oct. 25-29, 2022

All-inclusive genetic test: 5-base sequencing of complete patient genomes
Tomi Pastinen, MD, PhD
Weekly Seminar Series, Division of Medical Genetics, University of Washington, Seattle, Wash.
Oct. 7, 2022

Metabolic Insights from Single-Cell Studies: Clinical Implications
Elin Grundberg, PhD
European Association for the Study of Diabetes Annual Meeting
Sept. 19-23, 2022

Inclusive and Comprehensive Genomic Medicine for Rare Diseases – the GA4K Experience
Ana Cohen, PhD
Innovation Festival’s Mechanisms of Disease Research and Recruitment Conference
Aug. 4-5, 2022

Systematic Identification of Pathogenic Genetic Variants in Rare Disease Genomes
Scott Younger, PhD
University of Kansas Cancer Center, Cancer Biology Research Program
Aug. 3, 2022