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Presentations

Genomic Answers for Kids

The Genomic Answers for Kids team regularly makes presentations about the program and its results. This helps disseminate our findings for other researchers and health care providers to apply to their work.

Upcoming presentations


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

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

Recent presentations


Navigating the Rare Disease Journey in the Pediatric Population

Ana Cohen, PhD
Stanford Clinical Genomics Quarterly Meeting
June 15, 2022

Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository
Courtney Berrios, MSc, ScM, CGC
The 5th ELSI Congress
May 31-June 3, 2022

Will Genetics and Genomics Deliver Precision Health?
Tomi Pastinen, MD, PhD
US News and World Report Webinar Series: Healthcare of Tomorrow
May 19, 2022

Clinical genome negative: Genomic Answers for Kids
Tomi Pastinen, MD, PhD
Children’s Hospital of Philadelphia Research Institute: Genes, Genomes and Pediatric Disease RAG Seminar Series
May 18, 2022

Research using CRISPR-Cas9 technology at CMRI
Scott Younger, PhD; Jasmine McQuerry; Jacquelyn Nemechek
Research at Children’s Mercy Month – Lunch and Learn
May 17, 2022

On the Verge of Diagnosis: Applying New Technologies, Dynamic Analysis and Investigation for New Leukodystrophy Genes
Isabelle Thiffault, PhD
ELA Families-Scientists Meeting
March 26, 2022

Clinical Applications of Long-Read Sequencing: Ending the diagnostic odyssey and increasing diagnostic yield
Emily Farrow, PhD
American College of Medical Genetics and Genomics Annual Meeting
March 22, 2022

Children’s Mercy on Ending Diagnostic Odysseys
Ana Cohen, PhD
PhenoTips Speaker Series
Jan. 18, 2022

Genomic Answers for Kids – Solutions for Undiagnosed Disease
Tomi Pastinen, MD, PhD
NYU Grossman School of Medicine, Genetic Medicine Colloquium
Oct. 26, 2021

Genomic Answers for Kids View of Pediatrics and Precision Medicine
Tomi Pastinen, MD, PhD
MedCity Invest: Precision Medicine
June 9, 2021

Posters


Posters presented at the American Society of Human Genetics 2021 Annual Meeting:

  • Thiffault I, Farrow E, Saunders C, Cohen A, Alaimo J, et al. The knowns and unknowns: Challenges of genes of uncertain significance in the era of high-throughput sequencing and lessons from matching tools. *Reviewers Choice Award.

  • Berrios C, Donis de Miranda E, Pina K, Hurley EA. Divergent perceptions of meaning and utility of genetic testing results between families, clinicians, and laboratory directors.