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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.

Madeline Aldridge, BS
PhD Candidate
Johns Hopkins University School of Medicine Department of Neurology
Nelson Barrientos
Doctoral Candidate in Human Genetics
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
Cesar Fortes-Lima, PhD
Instructor in Genetic Medicine
Zitong He
Doctoral Candidate in Human Genetics
Wui Wang (Edward) Liu
PhD Sstudent
Madison Santizo, BA
Human Genetics
Nara Lygia M Sobreira, MD, PhD
Associate Professor
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

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
Ambroise Wonkam, MD, PhD

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

2025 Morning Keynote Address
8:50AM - 9:20AM

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

Mitophagy as a developmental pathology in the cardiac phenotype of Barth Syndrome
9:45AM - 9:55AM
Madison Santizo, BA

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

Myelin lipid composition in adrenoleukodystrophy
10:15AM - 10:25AM
Nadav I Weinstock, MD, PhD

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

TBA - Rare Disease
10:30AM - 10:40AM

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

TBA - Rare Disease
10:45AM - 10:55AM

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

Population genomics and evolutionary history of human populations in Africa and the African Diaspora
11:15AM - 11:25AM
Cesar Fortes-Lima, PhD

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

Genomic determinants of hematological trais in sickle cell disease in African ancestry populations
11:30AM - 11:40AM

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

Uncovering genetic predictors of kidney dysfunction in sickle cell disease
11:45AM - 11:55AM

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

Genetic studies of hearing loss in African populations
12:00PM - 12:10PM

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

Introduction to Distinguished Alumni Lecture
1:15PM - 1:20PM

Distinguished Alumni Lecture
1:20PM - 1:50PM

Discussion / Question & Answer
1:50PM - 2:00PM

Deep learning prediction of transposable element exonization in human genomes
2:00PM - 2:10PM
Zitong He

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

CRISPRi/a transgenic lines in zebrafish for systemic biological exploration of genes implicated in diseases
2:15PM - 2:25PM
Nelson Barrientos

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

SpliSync: Genomic language model-driven splice site correction of long RNA sequencing reads
2:30PM - 2:40PM
Wui Wang (Edward) Liu

Discussion / Question & Answer
2:40PM - 2:45PM

TITLE TBA
3:00PM - 3:10PM
Johannes Dohr, PhD

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

TITLE TBA
3:15PM - 3:25PM
Maria Viskadourou, PhD

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

TITLE TBA
3:30PM - 3:40PM

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

TITLE TBA
3:45PM - 3:55PM

Discussion / Question & Answer
3:55PM - 4:00PM

Closing Remarks
4:00PM - 4:05PM
Nara Lygia M Sobreira, MD, PhD

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

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