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80069579 - Advances in Genetic and Genomic Medicine Conference

  • Overview
  • 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 4:45:00 PM America/New_York For More Details: https://hopkinscme.cloud-cme.com/course/courseoverview?EID=63539 Description: DESCRIPTIONThe Advances in Genetic and Genomic Medicine conference will be a presential, multiple-speaker, one-day CME-accredited 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 resea... Johns Hopkins School of Medicine, Turner Auditorium false MM/DD/YYYY


Date & Location
Wednesday, December 10, 2025, 8:30 AM - 4:45 PM, Johns Hopkins School of Medicine, Turner Auditorium, Baltimore , MD

Target Audience
Specialties - Academic/Research, Multiple Specialties, Nurse Practitioner, Nursing, Physician Assistant
Professions - Non-Physician, Nurse, Nurse Practitioner, Physician, Physician Assistant, Student

Overview

DESCRIPTION

The Advances in Genetic and Genomic Medicine conference will be a presential, multiple-speaker, one-day CME-accredited 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.

WHO SHOULD ATTEND

This activity is intended for Department of Genetic Medicine faculty, staff, residents, fellows, graduate students, alumni, and many from the outside genetics community.


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.

Registration

REGISTRATION

December 10, 2025 – 8:00 AM

 LOCATION

Turner Auditorium

Thomas B. Turner Building

Johns Hopkins School of Medicine

720 Rutland Avenue

Baltimore, Maryland 21205

The Turner Building is located on Rutland Avenue at Monument Street.  Directions and campus parking information are available on our website under the Contact Us tab at https://HopkinsCME.cloud-cme.com. Handicapped parking is available in the nearby Rutland Garage.  Johns Hopkins is smoke-free.

FEES

Physicians $950

Non-Physicians $950

Alumni and Retirees $50

Residents/Fellows and Students - $0

REGISTRATION CUT-OFF DATE: December 3, 2025

Register Online: https://hopkinscme.cloud-cme.com/aph.aspx?P=5&EID=63539

Methods of Payment:  Learners must register and submit full payment prior to the start of the activity.  On-site payments can only be accepted if made by learners via credit card through the online portal by 5:00 p.m. ET on the first day of the activityThe registration fee includes instructional materials, continental breakfast, refreshment breaks and lunch.

You will receive a confirmation by e-mail.  If you have not received it by December 3, 2025, call (410) 502-9636 to confirm that you are registered.  A transcript of attendance will be available upon attestation of your credit hours and submission of the post activity online evaluation.   


Additional Information

ACCREDITATION STATEMENT

The Johns Hopkins University School of Medicine is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

CREDIT DESIGNATION STATEMENT

The Johns Hopkins University School of Medicine designates this live activity for a maximum of 5.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

POLICY ON PRESENTER AND PROVIDER DISCLOSURE

It is the policy of Johns Hopkins School of Medicine that the presenter and provider globally disclose conflicts of interest. The Johns Hopkins School of Medicine OCME has established policies in place to mitigate relevant conflicts of interest prior to this educational activity. Detailed disclosure will be made prior to presentation of the education.

OTHER CREDITS

American Academy of Nurse Practitioners National Certification Program accepts AMA PRA Category 1 Credit™ from organizations accredited by the ACCME.

 American Nurses Credentialing Center (ANCC) accepts AMA PRA Category 1 CreditTM from organizations accredited by the ACCME.

 National Commission on Certification of Physician Assistants (NCCPA) PAs may claim a maximum of 5.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 Credit™ from organizations accredited by ACCME or a recognized state medical society.

 The Johns Hopkins University has approved this activity for 5.75 contact hours for non-physicians. 



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
Postdoctoral research fellow
Johns Hopkins University
Madeline Aldridge, BS
PhD Candidate
Johns Hopkins University School of Medicine Department of Neurology
Rama Alhariri, Other
Johns Hopkins University
Dan Arking, PhD
Mary Armanios, MD, PhD
JHU SOM
Gabriel Avelar Colozza Gama, PhD
Ph.D.
Johns Hopkins University
Nelson Barrientos
Doctoral Candidate in Human Genetics
Johns Hopkins University
Michael Beer, PhD
Johns Hopkins University
Jhanay M Davis, Other
Human Genetics
Kimberly F Doheny, PhD
Professor of Genetic Medicine
Johns Hopkins University
Johannes Dohr, MD
Postdoctoral Research Fellow
Department of Genetic Medicine
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
Johns Hopkins University
Elena Gallo, PhD
Faculty Photos
Ada Hamosh, MD, MPH
Professor of Pediatrics, Dr. Frank V. Sutland Professor of Pediatric Genetics
Johns Hopkins University School of Medicine
Zitong He
Doctoral Candidate in Human Genetics
Julie Hoover-Fong, MD, PhD
Professor
Johns Hopkins University
Julia Johansson, BS/BA
Johns Hopkins SOM
Lisa Kratz, PhD
Lab Director
Kennedy Krieger Institute
Hungoo Lee, PhD
Assistant Professor
Johns Hopkins School of Medicine
Eric D Liu, MS
Medical Student
Johns Hopkins School of Medicine
Wui Wang (Edward) Lui
PhD Sstudent
jhu
Yajing Lyu
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
Weiyi Mu, ScM
Assistant Professor
Johns Hopkins School of Medicine
Gregory A Newby, PhD
Assistant Professor
Johns Hopkins University
Fujr Osman, BS
Johns Hopkins School of Medicine
Amy Patterson, MS, CGC
Genetic Counselor
Johns Hopkins University
Karen Raraigh, MGC
Assistant Professor
Johns Hopkins University
Madison Santizo, BA
Human Genetics
Krista Schatz, MS, Certified Genetic Counselor
Johns Hopkins University School of Medicine
Neeraj Sharma, PhD
Valeria A Silva, BS
Graduate Student
Johns Hopkins University
Christy H Smith, ScM, CGC
Genetic Counselor
Johns Hopkins University
Nara Lygia M Sobreira, MD, PhD
Associate Professor
Winston Timp, PhD
Associate Professor
Johns Hopkins University
Ana Topasna, BA in Neuroscience
Johns Hopkins
David Valle, MD, PhD
Professor
Johns Hopkins University School of Medicine
Patricia Varela Calais, PhD
Hilary Vernon, MD, PhD, FACMG
Professor
Johns Hopkins University School of Medicine
Tao Wang, MD, PhD
Nadav I Weinstock, MD, PhD
Resident Physician
Johns Hopkins
Noah Workman, Other
Johns Hopkins
Abdoulaye Yalcouye Sr., MD, PhD, Postdoc
Postdoc Fellow
Johns Hopkins University
Shira G Ziegler, MD, PhD
Johns Hopkins

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
Dan Arking, PhD

Introduction to 2025 Morning Keynote Speaker
8:45AM - 8:50AM
Kimberly F Doheny, PhD

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

Discussion / Question & Answer - Moderator
9:20AM - 9:30AM
Andrew S McCallion, PhD

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

Discussion / Question & Answer - Moderator
9:55AM - 10:00AM
Weiyi Mu, ScM

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

Discussion / Question & Answer - Moderator
10:10AM - 10:15AM
Elena Gallo, PhD

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

Discussion / Question & Answer - Moderator
10:25AM - 10:30AM
Cesar Fortes-Lima, PhD

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

Discussion / Question & Answer - Moderator
10:40AM - 10:45AM
Hungoo Lee, PhD

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

Discussion / Question & Answer - Moderator
10:55AM - 11:00AM
Tao Wang, MD, PhD

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

Discussion / Question & Answer - Moderator
11:25AM - 11:30AM
Christy H Smith, ScM, CGC

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 - Moderator
11:40AM - 11:45AM
Amy Patterson, MS, CGC

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

Discussion / Question & Answer - Moderator
11:55AM - 12:00PM
Lisa Kratz, PhD

Clonal hematopoiesis is adaptive and convergent
12:00PM - 12:10PM
Eric D Liu, MS

Discussion / Question & Answer - Moderator
12:10PM - 12:15PM
Neeraj Sharma, PhD

HIF-1–mediated PPME1 expression promotes breast cancer via AKT/Beta-Catenin
12:15PM - 12:25PM
Yajing Lyu

Discussion / Question & Answer - Moderator
12:25PM - 12:30PM
Kimberly F Doheny, PhD

Deep learning prediction of transposable element exonization in human genomes
1:30PM - 1:40PM
Zitong He

Discussion / Question & Answer - Moderator
1:40PM - 1:45PM
Michael Beer, PhD

CRISPRi/a transgenic lines in zebrafish for systemic biological exploration of genes implicated in diseases
1:45PM - 1:55PM
Nelson Barrientos

Discussion / Question & Answer - Moderator
1:55PM - 2:00PM
Shira G Ziegler, MD, PhD

SpliSync: Genomic language model-driven splice site correction of long RNA sequencing reads
2:00PM - 2:10PM
Wui Wang (Edward) Lui

Discussion / Question & Answer - Moderator
2:10PM - 2:15PM
Winston Timp, PhD

Novel EV-based biomarkers derived from iPSC neurons for Alzheimer’s disease diagnostics
2:15PM - 2:25PM
Waqar Ahmed, PhD

Discussion / Question & Answer - Moderator
2:25PM - 2:30PM
Krista Schatz, MS, Certified Genetic Counselor

Expanding CFTR function and RNA sequencing for genetically unresolved cases of cystic fibrosis
2:30PM - 2:40PM
Ana Topasna, BA in Neuroscience

Discussion / Question & Answer - Moderator
2:40PM - 2:45PM
Karen Raraigh, MGC

Allele-specific genome editing
3:00PM - 3:10PM
Johannes Dohr, MD

Discussion / Question & Answer - Moderator
3:10PM - 3:15PM
Vasiliki Machairaki, PhD

Hepatic targeting of AAV8-hOAT normalizes plasma ornithine in a mouse model of gyrate atrophy
3:15PM - 3:25PM
Julia Johansson, BS/BA

Discussion / Question & Answer - Moderator
3:25PM - 3:30PM
Gregory A Newby, PhD

Effects of HIF1A and VHL variants in patients with Ollier disease and Maffucci syndrome
3:30PM - 3:40PM
Patricia Varela Calais, PhD

Discussion / Question & Answer - Moderator
3:40PM - 3:45PM
Julie Hoover-Fong, MD, PhD

Base and prime editing methods to correct GNE myopathy
3:45PM - 3:55PM
Noah Workman, Other

Discussion / Question & Answer - Moderator
3:55PM - 4:00PM
David Valle, MD, PhD

Logic-gated CAR-T cells for the treatment of relapsed AML post-transplant
4:00PM - 4:10PM
Nikita Marcou, PhD

Discussion / Question & Answer - Moderator
4:10PM - 4:15PM
Mary Armanios, MD, PhD

Use of a small molecule and modulators to circumvent NMD of nonsense CFTR variants
4:15PM - 4:25PM
Jhanay M Davis, Other

Discussion / Question & Answer - Moderator
4:25PM - 4:30PM
Ada Hamosh, MD, MPH

Closing Remarks
4:30PM - 4:35PM
Nara Lygia M Sobreira, MD, PhD

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

link to disclosure form

New Activity Request Form

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