2024 Society for Inherited Metabolic Disorders Annual Meeting
Children’s Hospital of Philadelphia (CHOP) will be represented at the 45th Annual Meeting of the Society for Inherited Metabolic Disorders. This year’s meeting will be held April 14-17 at the Sheraton/Le Meridien Charlotte Hotel Complex in Charlotte, NC. This page details CHOP speakers and presentations at the conference, poster abstracts and more.
Meet our experts
Two physicians from CHOP will be featured speakers at this year’s SIMD conference.
Scientific Session 4: Selected Abstract Presentations
Monday, April 15, 4-5:30 p.m., Carolina Ballroom, first floor
Adeline Vanderver, MD, will present on “Interferon Signaling Gene Expression as a Diagnostic Biomarker” from 5:15-5:30 p.m.
Scientific Session 5: Poster presentations from Travel Award Winners
Monday, April 15, 7-8 p.m., Symphony Ballrooms 4-7, first floor
Rebecca Ahrens-Nicklas, MD, PhD, will present Poster #1: “Advancing Therapeutic Genome Editing for Phenylketonuria” from 7-7:10 p.m.
Scientific Session 8: ALD NBD: When it’s not …
Tuesday, April 16, 11 a.m.-12:45 p.m., Carolina Ballroom, first floor
Adeline Vanderver, MD, will present on “Aicardi Goutières Syndrome” from 11-11:30 a.m.
SIMD 2024 abstracts from CHOP
Poster abstracts and presentations will be available to view in the Symphony Ballrooms 4-7 on the first floor from 10-11 a.m. and 3-4 p.m. on Monday, April 15, as well as 10-11 a.m. Tuesday, April 16. Poster presentations from CHOP staff members are included below.
12 – Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria: Latest Findings from the COMPOSE® Phase 1/2 Trial.
Author: Can Ficicioglu MD, PhD
95 – The Natural History of Variable Subtypes in Pediatric-onset TuBB4A-related Disorders
Author: Adeline Vanderver, MD
168 – Manifestations of OXCT1 Heterozygosity
Author: Herodes Guzman, MD, MPH
486 – A Global Delphi Consensus Approach to Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis
Author: Can Ficicioglu MD, PhD
More about CHOP
Learn more about inherited metabolic disorders and programs available at CHOP through our related centers, programs and clinics:
- Congenital Orders of Glycosylation Clinic
- Division of Genomic Diagnostics
- Epilepsy Neurogenetic Initiative (ENGIN)
- Lysosomal Storage Disease (LSD) Center
- Mitochondrial Medicine Program
- Roberts Individualized Medical Genetics Center (IMGC)
Biochemical Genetics Training Program
CHOP is proud to offer both clinical and medical biochemical genetics training programs. We offer a Medical Biochemical Genetics Fellowship and Clinical Biochemical Genetics Residency. Learn more about biochemical genetics training at CHOP.
Looking to expand your career?
Children’s Hospital of Philadelphia has multiple openings for roles with the Division of Human Genetics. Learn more about the available roles and the specific programs they support.
Resources
Diagnostic testing at CHOP
The Department of Pathology and Laboratory Medicine at CHOP uses state-of-the-art technology to provide comprehensive diagnostic services to clinicians, hospitals and outside laboratories. Our work helps ensure children everywhere lead healthier lives. View our test directory.
Website for healthcare professionals
As a pediatric healthcare provider, you are essential to what we do every day here at CHOP and across our CHOP Care Network. Your collaboration and feedback directly shapes the training, tools and resources you’ll find at CHOP. Learn about our professional resources to support your practice.
Online educational opportunities
CHOP’s Online Pediatric Education Network (OPEN) provides pediatric medical education to healthcare professionals from around the world. Register to access free online lectures, including 30+ presentations on human genetics and hundreds more in various pediatric subspecialties. Check out the offerings available on CHOP Open.
Professional e-newsletters from CHOP
Healthcare professionals are invited to subscribe to any of the email newsletters published by Children’s Hospital of Philadelphia. These newsletters provide information on our clinical programs, research, clinical trials, educational opportunities and other updates important to providers who refer patients to CHOP.