AGENDA

  1:00 PM –  6:00 PM

Poster Board and Vendor Set Up           

  1:00 PM –  7:00 PM

Registration/Info Desk open (badge pick-up for pre-registered attendees only;
no onsite registration)                        

 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 – 5:00 PM

Registration/Info Desk open
Badge pick-up for pre-registered attendees only; no onsite registration

 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”                      

Scientific Session I - 8:00 AM - 10:00 AM
Metabolism and the Brain
Moderators: Jamie Fraser, MD, PhD & Andrea Gropman, MD 

 8:00 AM - 8:15 AM

Enzyme Replacement Therapy for CLN2 disease 
David Hsu, MD, PhD
University of Wisconsin-Madison

 8:15 AM - 8:30 AM

Neonatal Treatment of Molybdenum Cofactor Deficiency 
April Lehman, MD 
Nationwide Children’s Hospital                 

 8:30 AM - 8:45 AM

Mitochondrial Copper Transport and Treatment of Menkes Disease                 
Vishal M. Gohil, PhD
Texas A&M University

 8:45 AM – 9:00 AM

The Use of fNIRS in Metabolic Disease 
Kosar Khaksari, PhD
St. Jude Children’s Hospital 

 9:00 AM – 9:15 AM

Advanced Metabolic Imaging
Shawn Christ, PhD
University of Missouri 

 9:15 AM – 9:30 AM

Genetic Counseling for X-linked ALD
Julie Cohen, ScM, CGC
Kennedy Krieger Institute  

 9:30 AM – 10:00 AM

Q&A

10:00 AM – 11:00 AM

Coffee Break-Posters and Exhibits open 

Scientific Session 2 - 11:00 AM - 12:00 PM
The Evolving Landscape of Newborn Screening: Technology, Translation, and Trust
Moderators: Shagun Kaur, MD & Renata Gallagher, MD, PhD

11:00 AM – 11:15 AM

Newborn Screening for Homocystinuria: Emerging Strategies
Using Total Homocysteine Measurement
Konstantinos Petritis, PhD
Centers for Disease Control and Prevention

11:15 AM – 11:30 AM

Ethical Considerations for NBS and Precision Medicine in Arizona
Indigenous Communities
Krystal Tsosie, PhD, MPH, MA
Arizona State University               

11:30 AM – 11:45 AM

Adult IMD Diagnostics as Preparation for Genomic Newborn Screening
Nina Gold, MD
Massachusetts General Hospital

11:45 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
Moderators: Jaya Ganesh, MD & Walla Al Hertani, MD

 1:00 PM – 2:30 PM

Travel Award Winners                                                                                           

 2:30 PM – 2:45 PM

JSIMD Young Investigator Winner

 2:45 PM – 3:00 PM

Shapira Award Winner
 

                                                                                  

 3:00 PM – 4:00 PM

Coffee break – Posters and Exhibits open   
Travel Award Poster Presentations                                                                            

Scientific Session 4 - 4:00 PM - 5:30 PM
Selected abstract presentations 
Moderators: Gerry Lipshutz, MD & Yutaka Furuta, MD

   

 5:30 PM – 7:00 PM

Dinner on Own (and Optional Symposia)           
See app for event and restaurant options in the area                                              

Scientific Session 5 - 7:00 PM - 9:00 PM
Poster Session and Reception with Exhibits open
Beer, wine, and dessert served   

 7:00 PM - 8:00 PM

Even numbered posters attended by authors                                                

 8:00 PM - 9:00 PM

Odd numbered posters attended        
   

 7:00 AM - 8:00 AM

Breakfast - ”SIMD interest groups:”
Join us at the tables - Nursing, Metabolic Nutrition, Genetic Counseling,
Laboratory Workgroup, Basic Science Research, Clinical Research, Education,
and Membership Engagement
 

 7:30 AM – 1:00 PM

Registration/Info Desk open                                                                                              

Scientific Session 6 - 8:00 AM - 10:00 AM
Presidential Symposium: Building the Future Metabolic Genetics Workforce: Innovations in Education and Training of Biochemical Geneticists
Moderators:  Kristina Cusmano-Ozog, MD & Mari Mori, MD

 8:00 AM - 8:05 AM

Introduction

 8:05 AM - 8:35 AM

Presidential Address 
Debra Regier, MD, PhD
Atrium Health Levine Children                                                                                        

 8:35 AM - 8:55 AM

Competency-Based Medical Education (CBME)
and Entrustable Professional Activities (EPAs) in Medical Genetics Training 
Marzia Pasquali, PhD
University of Utah/ARUP Laboratories

 8:55 AM - 9:10 AM

A Scalable National Core Curriculum for Biochemical Genetics Education
Peter Baker II, MD
Children’s Hospital Colorado/University of Colorado Anschutz       

 9:10 AM - 9:25 AM

Virtual Metabolic Laboratory Rotation: An Immersive Learning Experience
for Genetics Trainees
J. Daniel Sharer, PhD
University of Alabama at Birmingham

 9:25 AM - 9:40 AM

After-Hours Nutrition Management: Practical Strategies for the Metabolic Team
from the Registered Dietitian Perspective 
Temitope Pedro, MPH, RD, CSP and Jodi Wright, RD, CSP
Stanford Medicine Children’s Health

 9:40 AM - 10:00 AM

Discussion

 10:00 AM - 11:00 AM

Coffee Break - Posters and Exhibits open 

Scientific Session 7 - 11:00 AM - 12:15 PM
Transforming the Landscape of Creatine Metabolism Disorders: Screening, Advocacy, and Emerging Therapies
Moderators: Dwight Koeberl MD, PhD & Brandy Rawls, RD 

11:00 AM - 11:15 AM

Update on GAMT and Creatine Transporter Deficiencies: Treatment, Follow-up,
and Outcomes
Andreas Schulze, MD, PhD
The Hospital for Sick Children (SickKids) 

11:15 AM - 11:30 AM

Newborn Screening for GAMT: Process Development, Cases Identified, and Updates
Rajesh Sharma, PhD
California Department of Public Health                                                                                        

11:30 AM - 11:45 AM

Creatine Derivatives for Treatment of Creatine Transporter Deficiency:
From Promise to Reality?
Saadet Andrews, MD, PhD 
University of Alberta

11:45 AM - 12:00 PM

Gene Therapy for Creatine Deficiency Disorders
Gerry Lipshutz, MD
University of California, Los Angeles     

12:00 PM - 12:15 PM

The Experience of a Father and Now Advocate for Rare Disease Research:
Randy Allen, Winner of the Beast Games and CTD Warrior
Jeffrey Randall Allen

12:15 PM - 12:30 PM

Discussion

12:30 PM - 7:00 PM 

Free afternoon - Lunch and dinner on your own
Optional Symposia will be offered between 1:00 PM and 2:30 PM. 
See app for events and restaurant options in the area.

 5:30 PM – 7:00 PM

NAMA Reception
NAMA alumni and past class participants who RSVP on their registration form
are invited to attend the NAMA reception.

 7:00 PM – 8:00 PM

Unknowns and Challenging Clinical Conundrums 
Moderators:  Yutaka Furuta, MD with Debra Regier, MD, PhD
7:00 PM - 7:05 PM - Updates on old cases
7:05 PM - 8:00 PM - Six 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 – 12:00 PM

Registration/Info Desk Open                                                                                                         

 7:00 AM - 8:00 AM

Breakfast

Scientific Session 8 - 8:00 AM - 9:30 AM
From Biomarker Discovery to Clinical Decision-Making: Translating Laboratory Advances into Patient Care
Moderators:   Anna Scott, PhD and Ashlee Stiles, PhD

 8:00 AM - 8:15 AM

Cerebral Folate Deficiency in Autism: Clinical Applications of Folate Receptor
Autoantibody Testing and Leucovorin Therapy
Jennifer L. Harmon, MD, PhD
Wake Forest University School of Medicine

 8:15 AM - 8:30 AM

4,5-Dihydroxyhexanoic Acid: A Robust Diagnostic and Prognostic Biomarker
for Mitochondrial Disease
Rohit Sharma, MD, PhD
Massachusetts General Hospital

 8:30 AM - 8:45 AM

Laboratory Monitoring of Patients Receiving Glycerol Phenylbutyrate:
Practical Interpretation of Amino Acid and Drug Metabolite Profiles
Brandy Rawls-Castillo, MS, RD, LD -Baylor College of Medicine
Kevin Glinton, MD, PhD - Texas Children’s Hospital

 8:45 AM - 9:00 AM

Hex4 and Pompe Disease: From Newborn Screening Interpretation
to Longitudinal Disease Monitoring
Sarah Young, PhD
Duke University School of Medicine

 9:00 AM - 9:15 AM

Mass Spectrometry-Based GAG Testing in MPS I and II: Screening, Diagnosis,
and Clinical Interpretation
Patricia (Tricia) Hall, PhD 
Mayo Clinic

 9:15 AM - 9:30 AM

Discussion

 9:30 AM - 10:00 AM

Coffee Break

Scientific Session 9 - 10:00 AM - 11:30 AM
Metabolic and Mitochondrial Disorders of the Heart: From Disease Mechanisms to Emerging Therapies
Moderators:   Hilary Vernon, MD, PhD & Dawn Peck, M.S., CGC

10:00 AM – 10:15 AM

Approach to Heart Transplantation and Heart Failure Management in Metabolic
and Mitochondrial Disorders
Brian Feingold, MD
UPMC Children’s Hospital of Pittsburgh                                                                   

10:15 AM – 10:30 AM

iPSC Models of Mitochondrial Function in the Heart
Emmanouil Tampakakis, MD
John Hopkins School of Medicine

10:30 AM – 10:45 AM

PPA2 Deficiency: Clinical Presentations and Cardiac Management
Saskia Wortmann, MD, PhD 
University Children's Hospital (Salzburg, Austria)

10:45 AM – 11:00 AM

Cardiac Involvement in Glycogen Storage Disorders and Gene Therapy
for Danon Disease
Joseph Rossano, MD
Children’s Hospital of Philadelphia

11:00 AM – 11:15 AM

Pathway Targeted Therapies for Cardiomyopathy/Heart Failure in Metabolic Diseases
Kathryn Chatfield, MD, PhD
Children’s Hospital Colorado/University of Colorado Anschutz 

11:15 AM – 11:30 AM

Discussion

11:30 AM – 12:00 PM

Wrap Up

Click here for Continuing Education information

Please note: all SIMD Annual Meeting functions are limited to registered attendees only, and name badges must be worn at all times in the conference area. No family members or guests may attend any of the MEALS OR activities.