Agenda: 2026 SIMD Annual Meeting

May 17, 2026

1:00 PM – 6:00 PM	Meeting Registration
1:00 PM – 6:00 PM	Poster Board and Vendor Set Up
3:00 PM – 6:00 PM	SIMD Board Meeting (attendance limited to board members only)
7:00 PM – 10:00 PM	Opening Reception

May 18, 2026

8:00 AM – 8:20 AM	Metabolic Medicine on the Island: Systemic Gaps in Screening, Diagnosis, and Treatment Frances Velez-Bartolomei, MD University of Puerto Rico
8:20 AM – 8:40 AM	Newborn Screening for Inborn Errors of Metabolism in Puerto Rico: Barriers and Opportunities Cristel Chapel-Crespo, MD University of Puerto Rico
8:40 AM – 9:00 AM	Current Status of Neonatal Screening in Latin America Gustavo Borrajo, PhD Fundacion Bioquimica Argentina
9:00 AM – 9:20 AM	Characterization of Neurological Features in a Cohort of Patients with GLUT1 Deficiency Syndrome in Chile Carolina Arias, MD Institute of Nutrition and Food Technology INTA , U Chile
9:20 AM - 9:40 AM	From Afar but Not Apart: How Can We Learn From Each Other? Amarilis Sanchez-Valle, MD University of South Florida
9:40 AM - 10:00 AM	Q&A

11:00 AM – 11:25 AM	SSADH deficiency and the role of neurophysiologic outcome measures Phillip Pearl, MD Boston Children’s Hospital
11:25 AM – 11:50 AM	Evolving Therapies: From Current Treatments to Emerging Innovations in Lysosomal Disorders Irene Chang, MD University of California, San Francisco (UCSF)
11:50 AM - 12:00 PM	Discussion

1:00 PM – 1:15 PM	Investigating the specificity of two novel biomarkers for pyridoxine ependent epilepsy: Implications for newborn screening, diagnosis, and treatment monitoring Jaclyn P. Souder, MD, PhD Children's Hospital Colorado/University of Colorado
1:15 PM - 1:30 PM	Insights into pediatric porphyrias from a large laboratory cohort Janet Martin, MD Mayo Clinic
1:30 PM - 1:45 PM	Biallelic variants in VPS34 are associated with a novel pediatric neurodegenerative disorder in the spectrum of NBIA Leonardo Ramos-Rodriguez, BS University of Pennsylvania; CHOP
1:45 PM - 2:00 PM	Metabolomic, lipidomic, and glycomic analysis of a human cell model of Krabbe Disease reveal treatable deficits in glycosylation and serine-ceramide metabolism Rodrigo T. Starosta, MD, PhD Oregon Health and Science University
2:00 PM - 2:15 PM	A generic core pro set for neurometabolic disorders: A qualitative study to accelerate drug trials Tom Steenbergen, MSc University Medical Center (Amsterdam UMC) / Emma Children’s Hospital
2:15 PM - 2:30 PM	Structure-guided in situ analysis of disease-causing mitochondrial complex I mutations directly in patient cells Jiying Ning, PhD University of Pittsburgh
2:30 PM - 2:45 PM	JSIMD Young Investigator Role of BOLA3 in the Mitochondrial Fe-S Cluster Clarified by Metabolomic Analysis Hiroyuki Iijima, MD, PhD National Center for Child Health and Development (Tokyo, Japan)
2:45 PM - 3:00 PM	Shapira Award Winner Feasibility of newborn screening for pyridoxine-dependent epilepsy Kristine Pauly, BS, MPH University of Colorado Anschutz

4:00 PM – 4:15 PM	Long-term morbidity and mortality following solid organ transplantation in MMUT – methylmalonic acidemia Irini Manoli, MD, PhD NIH - National Human Genome Research Institute (NHGRI)
4:15 PM - 4:30 PM	A Multi-Omics Map of DHDDS Neurodegeneration Reveals NMN as a Targeted Rescue Strategy Tamas Kozicz, MD, PhD Icahn School of Medicine at Mount Sinai
4:30 PM - 4:45 PM	In situ cryo-electron microscopy tomography reveals adipyl-D-Ala-D-His effectively ameliorates gross mitochondrial structural abnormalities and alters mitochondrial quality control biomarkers in propionic acidemia atient cells Tabitha Banks-Tibbs University of Pittsburgh
4:45 PM - 5:00 PM	Utilization of an EPIC dashboard for long-term follow-up of patients identified by newborn screening Erica L. Wright, MS, CGC University of Colorado/Children's Hospital Colorado
5:00 PM - 5:15 PM	Updated results from a pivotal, phase 3, double-blind, placebo-controlled trial of DTX401 for the treatment of patients with glycogen storage disease type 1A (GSD1A) Diva D. De León-Crutchlow, MD, MSCE Children’s Hospital of Philadelphia
5:15 PM - 5:30 PM	Glycosylation biomarkers for populational screening of hereditary fructose intolerance and fructose-1,6-bisphosphatase deficiency Miao He, PhD Children’s Hospital of Philadelphia

7:00 PM - 7:10 PM	Current status of urine organic acid testing: heterogeneous practices and targets for harmonization Bright Amankwaa, PhD[KW1.1] University of Washington
7:10 PM – 7:20 PM	Advancing Biochemical Diagnostics for Mitochondrial Diseases Through a Clinically Validated LC-MS/MS Ketone Body Panel Robin H. Kemperman, PhD Children’s Hospital of Philadelphia
7:20 PM - 7:30 PM	Combined Oxidative Phosphorylation Deficiency 13 (COXPD13): Phenotypic Heterogeneity and Variable Interferon Activation in PNPT1-Related Mitochondrial Disease Dan R. Brooks, MD Baylor College of Medicine
7:30 PM - 7:40 PM	A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl CoA hydratase (ECHS1) deficiency Christine Kong, BA Perelman School of Medicine at the University of Pennsylvania
7:40 PM - 7:50 PM	Biochemical Characterization of Adults with MADD-like Profiles: Distinguishing Inherited Disease from Medication Effects Ibrahim T. Khoja, MD Mayo Clinic
7:50 PM - 8:00 PM	A recurrent pattern of impaired oxygen consumption in PARS2 deficiency and rescue by proline supplementation in patient-derived fibroblasts Shubhnita Singh, MD, PhD Children’s Hospital of Philadelphia
8:00 PM - 8:10 PM	On the novel insights into the pathophysiology and treatment of myopathy in inherited Phosphoglucomutase 1 deficiency (PGM1-CDG) Bijina Balakrishnan, PhD University of Utah
8:10 PM - 8:30 PM	Committee Review

May 19, 2026

7:00 AM - 8:00 AM	Breakfast - SIMD interest groups Join us at the tables – Nursing/APPs, Metabolic Nutrition, Genetic Counseling, Laboratory Workgroup, Basic Science Research, Clinical Research, Adult Metabolic, Education, Public Issues, and Membership Engagement
7:30 AM – 1:00 PM	Meeting Registration

8:00 AM - 8:25 AM

*Introduction to SIMD Laboratory Working Group
Marcus Miller, PhD
Indiana University School of Medicine

Medications and Other Recurrent Interferences in Metabolic Data
Marcus Miller, PhD
Indiana University School of Medicine

8:25 AM – 8:50 AM

Biochemical Genetics in the Omics Era: We are Better Together
Ashlee Stiles, PhD, FACMG
Duke University Medical Center

8:50 AM – 9:00 AM

Discussion

9:00 AM – 9:10 AM	Break

9:10 AM – 9:30 AM	Navigating Challenges in Newborn Screening for Lysosomal Disorders Christina Grant, MD, PhD Children’s National Hospital
9:30 AM – 9:50 AM	Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine Jennifer Goldstein, PhD, MS, CGC University of North Carolina at Chapel Hill
9:50 AM - 10:00 AM	Discussion

11:00 AM – 11:20 AM	Dietary Strategies in the Management of Citrin Deficiency Ilona Ginevic, MS, RD, CDN Icahn School of Medicine at Mount Sinai
11:20 AM – 11:40 AM	The Goldilocks Principle in Liver Transplantation for IEMs: Balancing Neuroprotection, Timing, and Benefit Daniel Leung, MD, FAASLD Baylor College of Medicine/Texas Children’s Hospital
11:40 AM – 12:00 PM	Personalized gene editing for Urea Cycle Disorders Rebecca Ahrens-Nicklas, MD, PhD Children’s Hospital of Philadelphia
12:00 PM - 12:20 PM	Genetic Therapies for OTC Deficiency Cary Harding, MD Oregon Health & Science University
12:20 PM - 12:30 PM	Discussion

7:00 PM – 8:00 PM

Unknowns and Challenging Clinical Conundrums (NON CME)
Moderators: Yutaka Furuta, MD & Molly Crenshaw, MD, MPH

7:00 PM - 7:05 PM Updates on old cases
7:05 PM - 8:00 PM Six NEW pre-submitted cases

8:00 PM – 9:30 PM

SIMD Award Presentations and Business Meeting
Emmanuel Shapira SIMD Award (First Author of Best Publication in MGM)
SIMD Founders Award (Best Oral Presentation by a Trainee)

May 20, 2026

8:00 AM - 8:20 AM	200 and Counting: Identification of New CDG Types, Biomarkers, and Basic Science Insights Hudson Freeze, PhD Sanford Burnham Prebys Medical Discovery Institute
8:20 AM – 8:40 AM	Metabolic and Glycosylation-Related Mechanisms Converge to Drive Disease in a PMM2-CDG Zebrafish Model Heather Flanagan-Steet, PhD JC Self Research Institute, Greenwood Genetic Center
8:40 AM – 9:00 AM	Clinical Perspectives on CDG Andrew Edmondson, MD, PhD Children’s Hospital of Philadelphia
9:00 AM – 9:20 AM	Developing novel treatments in congenital disorders of glycosylation Eva Morava, MD Icahn School of Medicine at Mount Sinai
9:20 AM – 9:30 AM	Discussion

9:30 AM - 10:00 AM	AM Coffee Break

10:00 AM - 10:20 AM	Metformin therapy to facilitate weight loss in adults with classic Maple Syrup Urine Disease Grace Meier, MD Clinic for Special Children
10:20 AM – 10:40 AM	Reproductive Healthcare for Women with IMD Jessica Gold, MD, PhD Northwell Health
10:40 AM – 11:00 AM	Brains in Transition: Neurocognitive Care Across the Lifespan in IEM Kuntal Sen, MD, FACMG Children's National
11:00 AM – 11:20 AM	Metabolic reprogramming in cancer: mechanisms and therapeutic relevance Ralph DeBerardinis, MD, PhD UT Southwestern
11:20 AM – 11:30 AM	Discussion
11:30 AM - 12:00 PM	Wrap Up

7:00 AM - 8:00 AM	Breakfast New to SIMD, new to Rare Disease, or want to meet for breakfast? Join us at the tables labeled “New to SIMD"
7:30 AM – 5:00 PM	Meeting Registration

3:00 PM – 4:00 PM	PM Coffee Break-Posters and Exhibits open

10:00 AM – 11:00 AM	AM Coffee Break - Posters and Exhibits open

7:00 AM - 8:00 AM	Breakfast
7:30 AM – 1:00 PM	Meeting Registration