Agenda

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

7:00 AM - 8:30 AM

Breakfast                                                                                                    

7:30 AM – 5:00 PM

Meeting Registration

Scientific Session I - 8:00 AM - 10:00 AM
Bridging the Gap: Challenges and Collaborative Solutions for Diagnosing and Treating Inborn Errors
of Metabolism in Under-Resourced Communities

8:00 AM – 8:20 AM

Metabolic Medicine on the Island: Systemic Gaps in Screening, Diagnosis,
and Treatment
Frances Velez-Bartolomei, MD

8:20 AM – 8:40 AM

Newborn Screening for Inborn Errors of Metabolism in Puerto Rico:
Barriers and Opportunities
Cristel Chapel-Crespo, MD

8:40 AM – 9:00 AM

Current Status of Neonatal Screening in Latin America
Gustavo Borrajo, PhD

9:00 AM – 9:20 AM

Characterization of Neurological Features in a Cohort of Patients
with GLUT1 Deficiency Syndrome in Chile 
Carolina Arias, MD

9:20 AM - 9:40 AM

From Afar but Not Apart: How Can We Learn From Each Other?
Amarilis Sanchez-Valle, MD 

9:40 AM - 10:00 AM

Q&A

10:00 AM – 11:00 AM

AM Coffee Break-Posters and Exhibits open                                                                                   

Scientific Session 2 - 11:00 AM - 12:00 PM
What’s New in Neurometabolic Disorders?

11:00 AM – 11:25 AM

SSADH deficiency and the role of neurophysiologic outcome measures  
Phillip Pearl, MD

11:25 AM – 11:50 AM

Evolving Therapies: From Current Treatments to Emerging Innovations
in Lysosomal Disorders
Irene Chang, MD

11:50 AM - 12:00 PM

Discussion

12:00 PM – 1:00 PM

Lunch                                                                                                                          
   

Scientific Session 3 - 1:00 PM - 3:00 PM
Oral presentations from Travel Award winners, Shapira Award winner and the JSIMD Young Investigator winner

3:00 PM – 4:00 PM

PM Coffee Break-Posters and Exhibits open                                                         
   

Scientific Session 4 - 4:00 PM - 5:30 PM
Selected abstract presentations

5:30 PM – 7:00 PM

Dinner on Own                                                                                                   
   

Scientific Session 5 - 7:00 PM - 10:00 PM
Poster Session and Reception with Exhibits open  

  • Posters will be attended by authors from 7:00 PM to 9:00 PM
    • 7:00 PM - 8:00 PM  Even numbered posters attended
    • 8:00 PM - 9:00 PM Odd numbered posters attended
    • 9:00 PM - 10:00 PM Feel free to visit all posters and exhibits
       
  • Poster presentations from Travel Award Winners will be 7:00 PM to 8:00 PM
    • 10 min presentation at each poster from travel award winners attended
      by SIMD Founders Award Committee 
       
  • Awards Committee review will be 8:00 PM to 8:15 PM

7:00 AM - 8:30 AM

Breakfast

7:30 AM – 1:00 PM

Meeting Registration                                                                                               

Scientific Session 6 - 8:00 AM - 9:00 AM
Biochemical Genetics Laboratories: Where are We Now and Where Can We Go?

8:00 AM - 8:25 AM

*Introduction to SIMD Laboratory Working Group
Marcus Miller, PhD

Medications and Other Recurrent Interferences in Metabolic Data
Marcus Miller, PhD

8:25 AM – 8:50 AM

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

8:50 AM – 9:00 AM

Discussion

9:00 AM – 9:10 AM

Break                                                                                                                           
 

                                                                                 

Scientific Session 7 - 9:10 AM - 10:00 AM
Lysosomal Disorders: Challenges in Diagnosis and Management

9:10 AM – 9:30 AM

Navigating Challenges in Newborn Screening for Lysosomal Disorders      
Christina Grant, MD, PhD

9:30 AM – 9:50 AM

Pseudodeficiency: A poorly defined and misunderstood term in an era
of precision medicine
Jennifer Goldstein, PhD, MS, CGC

9:50 AM - 10:00 AM

Discussion
   

10:00 AM – 11:00 AM

AM Coffee Break - Posters and Exhibits open                                                      
 

                                                                                 

Scientific Session 8 - 11:00 AM - 12:30 PM
From Traditional Therapy to Precision Medicine: Urea Cycle Disorders (UCDs)as Models for other IEMs[]

11:00 AM – 11:20 AM

Dietary Strategies in the Management of Citrin Deficiency
Ilona Ginevic, MS, RD, CDN

11:20 AM – 11:40 AM

The Goldilocks Principle in Liver Transplantation for IEMs: Balancing           
Neuroprotection, Timing, and Benefit
Daniel Leung, MD, FAASLD

11:40 AM – 12:00 PM

Personalized gene editing for Urea Cycle Disorders
Rebecca Ahrens-Niklas, MD, PhD

12:00 PM - 12:20 PM

Genetic Therapies for OTC Deficiency
Cary Harding, MD

12:20 PM - 12:30 PM

Discussion

12:30 PM – 7:00 PM

Free afternoon - Lunch and dinner on your own                                                 
   

5:30 PM – 7:00 PM

NAMA Reception

7:00 PM – 8:00 PM

Unknowns and Challenging Clinical Conundrums (NON CME)

  • 7:00 PM - 7:05PM 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)

7:00 AM - 8:30 AM

Breakfast

7:30 AM – 1:00 PM

Meeting Registration                                                                                                         

Scientific Session 9 - 8:00 AM - 9:30 AM
Congenital Disorders of Glycosylation (CDG) 

8:00 AM - 8:20 AM

200 and Counting: Identification of New CDG Types, Biomarkers, and Basic
Science Insights
Hudson Freeze, PhD

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

8:40 AM – 9:00 AM

Clinical Perspectives on CDG
Andrew Edmondson, MD, PhD

9:00 AM – 9:20 AM

Developing novel treatments in congenital disorders of glycosylation
Eva Morava, MD

9:20 AM – 9:30 AM

Discussion
   

9:30 AM - 10:00 AM

AM Coffee Break                                                                                                                    
 

                                                                                                         

Scientific Session 10 - 10:00 AM - 11:30 AM
Emerging Issues for the Management of Aging Patients with Inborn Errors of Metabolism

10:00 AM - 10:20 AM

Metformin therapy to facilitate weight loss in adults with classic Maple Syrup
Urine Disease
Grace Meier, MD

10:20 AM – 10:40 AM

Reproductive Healthcare for Women with IMD
Jessica Gold, MD, PhD

10:40 AM – 11:00 AM

Brains in Transition: Neurocognitive Care Across the Lifespan in IEM
Kuntal Sen, MD, FACMG

11:00 AM – 11:20 AM

Metabolic reprogramming in cancer: mechanisms and therapeutic relevance
Ralph DeBerardinis, MD, PhD

11:20 AM – 11:30 AM

Discussion

11:30 AM - 12:00 PM

Wrap Up

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