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80069579 - Advances in Genetic and Genomic Medicine Conference

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  • Register
  • Faculty
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Add to Calendar Advances in Genetic and Genomic Medicine Conference 12/10/2025 8:30:00 AM 12/10/2025 4:30:00 PM America/New_York For More Details: https://hopkinscme.cloud-cme.com/course/courseoverview?EID=63539 Description: The Advances in Genetic and Genomic Medicine conference will be a presential, multiplespeaker, oneday CMEaccredited course. In attendance will be all DGM faculty, residents, fellows, postdoctoral students, graduate students, and others from the Johns Hopkins School of Medicine interested in learning more about genetics and genomics. The topics will cover both clinical and basic research interests ... Johns Hopkins School of Medicine, Turner Auditorium false MM/DD/YYYY


Date & Location
Wednesday, December 10, 2025, 8:30 AM - 4:30 PM, Johns Hopkins School of Medicine, Turner Auditorium, Baltimore , MD

Target Audience
Specialties - Multiple Specialties, Nurse Practitioner, Nursing, Physician Assistant

Overview
The Advances in Genetic and Genomic Medicine conference will be a presential, multiplespeaker, oneday CMEaccredited course. In attendance will be all DGM faculty, residents, fellows, postdoctoral students, graduate students, and others from the Johns Hopkins School of Medicine interested in learning more about genetics and genomics. The topics will cover both clinical and basic research interests in genetic and genomic medicine.

Objectives
  1. Interpret whole exome and whole genome sequencing reports to diagnose rare genetic disorders and assess individual risk for complex diseases, based on current best practices in clinical genomics.
  2. Compare and evaluate current gene therapy approaches, including CRISPR based genome editing, viral vector systems, and RNA therapeutics, and identify appropriate clinical contexts for their application.
  3. Analyze how artificial intelligence tools are being used to enhance variant classification and genotypephenotype correlations, and assess their potential utility and limitations in clinical genomics workflows.


Keywords: LIVEgeneticsgenomicsgenetic testingmitophagypopulation genomicsSpliSync

Mitigation of Relevant Financial Relationships


Johns Hopkins University adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Waqar Ahmed, PhD
Madeline Aldridge, BS
PhD Candidate
Johns Hopkins University School of Medicine Department of Neurology
Rama Alhariri, Other
Dan Arking, phd
Mary Armanios, MD
JHU SOM
Nelson Barrientos
Doctoral Candidate in Human Genetics
Jhanay Davis, Other
Johannes Dohr, PhD
Postdoctoral Research Fellow
Jefferson Doyle, MD, PhD, MHS, MA
Assistant Professor of Ophthalmology and Genetic Medicine
Johns Hopkins University School of Medicine
Seyed Ali Fatemi, MD
Chief Medical Officer
Kennedy Krieger Institute
Liliana Florea, PhD
Johns Hopkins University
Cesar Fortes-Lima, PhD
Instructor in Genetic Medicine
Johns Hopkins University
Gabriel Avelar Colozza Gama, Other
Zitong He
Doctoral Candidate in Human Genetics
Julia Johansson, Other
Wui Wang (Edward) Lui
PhD Sstudent
jhu
VASILIKI Machairaki, PhD
JOHNS HOPKINS SCHOOL OF MEDICINE
Nikita Marcou, PhD
Johns Hopkins University
Andrew S McCallion, PhD
Associate Professor
Johns Hopkins University School of Medicine
Gregory A Newby, PhD
Assistant Professor
Johns Hopkins University
Fujr Osman, PhD
Madison Santizo, BA
Human Genetics
Neeraj Sharma, PhD
Valeria A Silva, PhD
Nara Lygia M Sobreira, MD, PhD
Associate Professor
Charlotte Sumner, MD
Professor of Neurology and Neuroscience
Johns hopkins
Ana Topasna, Other
Patricia Varela Calais, PhD
Hilary Vernon, MD, FACMG
Associate Professor
Johns Hopkins University School of Medicine
Maria Viskadourou, PhD
Postdoctoral Researcher
Nadav I Weinstock, MD, PhD
Resident Physician
Johns Hopkins
Ambroise Wonkam, MD, PhD
Professor, and Director
Johns Hopkins University School of Medicine
Noah Workman, Other
Abdoulaye Yalcouye Sr., MD, PhD, Postdoc
Postdoc Fellow
Johns Hopkins University

Wednesday, December 10, 2025

Welcome and Conference Goals
8:30AM - 8:35AM
Nara Lygia M Sobreira, MD, PhD

Annual Department Synopsis
8:35AM - 8:45AM

Introduction to 2025 Morning Keynote Speaker
8:45AM - 8:50AM

2025 Morning Keynote Address: Elamipretide: A new approved small molecule therapy for Barth syndrome
8:50AM - 9:20AM
Hilary Vernon, MD, FACMG

Discussion / Question & Answer
9:20AM - 9:30AM

Myelin lipid composition in adrenoleukodystrophy
9:45AM - 9:55AM
Nadav I Weinstock, MD, PhD

Discussion / Question & Answer
9:55AM - 10:00AM

Cell death pathways in lower motor neurons in Spinal Muscular Atrophy (SMA)
10:00AM - 10:10AM
Madeline Aldridge, BS

Discussion / Question & Answer
10:10AM - 10:15AM

Mitophagy as a developmental pathology in the cardiac phenotype of Barth Syndrome
10:15AM - 10:25AM
Madison Santizo, BA

Discussion / Question & Answer
10:25AM - 10:30AM

Identifying methylation signatures in IDH1-mutated enchondromas
10:30AM - 10:40AM
Gabriel Avelar Colozza Gama, Other

Discussion / Question & Answer
10:40AM - 10:45AM

Mitophagy and bioenergetic dysfunction in muscle cell differentiation in Barth syndrome
10:45AM - 10:55AM
Valeria A Silva, PhD

Discussion / Question & Answer
10:55AM - 11:00AM

Uncovering genetic predictors of kidney dysfunction in sickle cell disease
11:15AM - 11:25AM
Fujr Osman, PhD

Discussion / Question & Answer
11:25AM - 11:30AM

Genetic studies of hearing loss in African populations
11:30AM - 11:40AM
Cesar Fortes-Lima, PhD
Abdoulaye Yalcouye Sr., MD, PhD, Postdoc

Discussion / Question & Answer
11:40AM - 11:45AM

Uncovering the nuclear genetic basis of mitochondrial DNA heteroplasmy
11:45AM - 11:55AM
Rama Alhariri, Other

Discussion / Question & Answer
11:55AM - 12:00PM

TITLE TBA
12:00PM - 12:10PM

Discussion / Question & Answer
12:10PM - 12:15PM

Deep learning prediction of transposable element exonization in human genomes
1:15PM - 1:25PM
Zitong He

Discussion / Question & Answer
1:25PM - 1:30PM

CRISPRi/a transgenic lines in zebrafish for systemic biological exploration of genes implicated in diseases
1:30PM - 1:40PM
Nelson Barrientos

Discussion / Question & Answer
1:40PM - 1:45PM

SpliSync: Genomic language model-driven splice site correction of long RNA sequencing reads
1:45PM - 1:55PM
Wui Wang (Edward) Lui

Discussion / Question & Answer
1:55PM - 2:00PM

Novel EV-based biomarkers derived from iPSC neurons for Alzheimer’s disease diagnostics
2:00PM - 2:10PM
Waqar Ahmed, PhD

Discussion / Question & Answer
2:10PM - 2:15PM

Expanding CFTR function and RNA sequencing for genetically unresolved cases of cystic fibrosis
2:15PM - 2:25PM
Ana Topasna, Other

Discussion / Question & Answer
2:25PM - 2:30PM

Allele-specific genome editing
2:45PM - 2:55PM
Johannes Dohr, PhD

Discussion / Question & Answer
2:55PM - 3:00PM

Hepatic targeting of AAV8-hOAT normalizes plasma ornithine in a mouse model of gyrate atrophy
3:00PM - 3:10PM
Julia Johansson, Other

Discussion / Question & Answer
3:10PM - 3:15PM

Effects of HIF1A and VHL variants in patients with Ollier disease and Maffucci syndrome
3:15PM - 3:25PM
Patricia Varela Calais, PhD

Discussion / Question & Answer
3:25PM - 3:30PM

Base and prime editing methods to correct GNE myopathy
3:30PM - 3:40PM
Noah Workman, Other

Discussion / Question & Answer
3:40PM - 3:45PM

Logic-gated CAR-T cells for the treatment of relapsed AML post-transplant
3:45PM - 3:55PM
Nikita Marcou, PhD

Discussion / Question & Answer
3:55PM - 4:00PM
Mary Armanios, MD

Use of a small molecule and modulators to circumvent NMD of nonsense CFTR variants
4:00PM - 4:10PM
Jhanay Davis, Other

Discussion / Question & Answer
4:10PM - 4:15PM

Closing Remarks
4:15PM - 4:20PM
Nara Lygia M Sobreira, MD, PhD

Contact Us:
410-955-2959
Or by email: [email protected]

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