Sunday, April 3, 2016

1:00 PM - 6:00 PM

Meeting Registration – Masters Registration Desk

1:00 PM – 6:00 PM

Poster board and vendor set up – Tournament Hall

3:00 PM - 6:00 PM

SIMD Board meeting – Gallery A

3:00 PM – 6:00 PM

NAMA Board meeting – Gallery B

7:00 PM – 10:00 PM

Opening Reception – Sawgrass Pool

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Monday, April 4, 2015

7:00 AM – 8:00 AM

Breakfast – Champions Ballroom E

7:30 AM – 5:00 PM

Meeting Registration – Masters Registration Desk

Scientific Session 1

(7:55 AM –10:00 AM)

Everything Old is New Again - New and old IEM

Masters Ballroom

Moderator – Nicola Longo and Cindy Freehauf

7:55 AM – 8:00 AM

Opening Remarks -  President Marshall Summar, M.D.

8:00 AM - 8:30 AM

Hyperammonemia: new surprises from research into an old problem

Mendel Tuchman. M.D.

Children’s National Medical Center, Washington, DC

8:30 AM – 9:00 AM

Causes of 3-methylglutaconic aciduria

Saskia Wortmann, M.D., Ph.D.

University Children’s Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria

9:00 AM – 9:30 AM

Congenital and acquired disorders of the pyruvate dehydrogenase complex

Peter Stacpoole, Ph.D., M.D.

University of Florida, Gainesville, FL 

9:30 AM – 10:00 AM

ROBERT GUTHRIE MEMORIAL LECTURE

Considerations in next-generation sequencing applications in newborn screening: supporting, supplementing, and expanding current approaches

Sean Hofherr, Ph.D., FACMG

Children’s National Medical Center, Washington, DC

10:00 AM –11:00 AM

AM Coffee break  - Poster and  Exhibits open – Tournament Hall

Scientific Session 2

(11:00 AM –12:30 PM)

The Rare Disease Consortia – Making the Rare Common

STAIR – The Sterol and Isoprenoid Research Consortium

INFORM – The Fatty Acid Oxidation Research Consortium

Masters Ballroom

Moderators – Cate Walsh Vockley and Shawn McCandless

11:00 AM-11:45 AM

What’s new in the STAIR Consortium

Bill Rizzo. M.D.

University of Nebraska Medical Center, Omaha, NE 

11:45 AM – 12:30 PM

INFORM – The Linkage Between Fatty Acid Oxidation, Mitochondrial Dysfunction and Disease

Jerry Vockley, M.D., Ph.D.

University of Pittsburgh/Children's Hospital of Pittsburgh, Pittsburgh, PA 

12:30 PM –1:30 PM

Box Lunch – Masters Foyer

Scientific Session 3

(1:30 PM – 4:00 PM)

Travel Award Oral and Young Investigator Presentations

Masters Ballroom

Moderators – Marzia Pasquali and Fernando Scaglia

1:30 PM – 1:45 PM

Phenylalanine hydroxylase screening. Pharmacological chaperones for phenylketonuria treatment

Oscar Aubi

University of Bergen, Bergen, Norway

1:45 PM – 2:00 PM

Diagnosis of genetically unresolved subjects with functional pyruvate dehydrogenase complex deficiencies using advanced genomic technologies with functional confirmation

Jirair K. Bedoyan, M.D., Ph.D.

University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH

2:00 PM – 2:15 PM

Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking

Sean Froese, Ph.D.

University Children’s Hospital Zurich, Zurich, Switzerland

2:15 PM – 2:30 PM

Flunarizine rescues short lifespan of CLN3 knockout caenorhabditis elegans model of Batten Disease

Young Joon (Fred)  Kwon

The Children’s Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, PA

2:30 PM – 2:45 PM

Neurometabolic disorders: potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior

Lisa Pan, M.D.

University of Pittsburgh, Pittsburgh, PA

2:45 PM – 3:00 PM

The diagnostic utility of aerobic exercise testing in Mitochondrial Myopathies

Zarazuela Zolkipli Cunningham, M.B.,Ch.B., MRCP

The Children’s Hospital of Philadelphia, Philadelphia, PA

3:00 PM – 3:15 PM

JSIMD Young Investigator award for best presentation at 2015 JSIMD meeting

pH-responsive pharmacological chaperones for lysosomal storage disease

Dr. Aya Narita, M.D

Tottori University, Nishi-cho, Yonago City, Tottori, Japan

3:15 PM – 3:30 PM

Presentation from the SIMD Hyperion Fellow

iPS cell-based modeling of galactosemia

Didem Demirbas, Ph.D.

Boston Children’s Hospital, Boston, MA

3:30 PM – 4:00 PM

PM coffee break – Poster and  Exhibits open – Tournament Hall

Scientific Session 4

(4:00 PM – 5:30 PM)

Session 4: Late Breaking Science – New and exciting work of interest

Masters Ballroom

Moderators Marshall Summar and Georgianne Arnold

4:00 PM – 4:15 PM

First presentation of pivotal PRISM 302 data: A phase 3, randomized, double-blind clinical trial evaluating efficacy and safety of pegvaliase for the treatment of adults with PKU

Cary Harding, M.D.

Oregon Health & Sciences University, Portland, OR

4:15 PM – 4:30 PM

Clinical Outcomes of Infants with Abnormal Newborn Screens for Krabbe Disease in New York State

Melissa Wasserstein, M.D.

Icahn School of Medicine at Mt. Sinai, New York, NY

4:30 PM – 5:30 PM

The SIMD and Newborn Screening for LSD

Marshall Summar, M.D.

Children’s National Medical Center, Washington, DC

5:30 PM - 7:00 PM

Optional Dinner to purchase (ticket required) – Island Green Pavilion

Scientific Session 5

(7:30 PM – 9:30 PM)

Presidential Talk and Poster Session

7:00 PM – 7:30 PM

Presidential Address  - Masters Ballroom

May you live in interesting times

Marshall Summar, M.D.

Children’s National Medical Center, Washington, DC

7:30 PM – 10:00 PM

Posters Attended by Authors and Exhibits open

Beer, Wine and dessert served  - Tournament Hall

7:30 – 8:30 – Even number posters attended

8:30 – 9:30 – Odd number posters attended

7:50 PM – 8:50 PM

Travel Award Poster Presentations (5 minute presentation at each poster from travel award winners attended by SIMD Founders Award Committee

7:50 PM – 8:00 PM

Poster #7

Combinatorial application of functional omics testing uncovers mitochondrial deficiency in Smith-Magenis syndrome

Joseph T. Alaimo, Ph.D

Baylor College of Medicine, Houston, TX

8:00 PM – 8:10 PM

Poster #38

L-aspartate as potential treatment for citrullinemia type 1 patients

Carmen Diez Fernandez, Ph.D.

University Children’s Hospital Zurich, Zurich, Switzerland

8:10 PM  - 8:20 PM

Poster #44

Functional studies remain the best strategy to confirm the diagnosis of primary carnitine deficiency

Marta Friegeni, M.D.

University of Utah, Salt Lake City, UT

8:20 PM – 8:30 PM

Poster #60

Organic cation transporter 1 (OCT1) effluxes carnitine and acylcarnitines from the liver to blood

Hyu In Kim, Ph.D. Candidate

University of Pennsylvania, Philadelphia, PA

8:30 PM – 8:40 PM

Poster #70

In vitro functional studies in patient derived dermal fibroblasts reveal salvage pathways that might rescue glycosylation defects in classical galactosaemia

Ashwini Maratha, Ph.D., Post Doctoral Researcher

National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital,  Dublin, Ireland

8:40 PM – 8:50 PM

Poster #116

Generating A Murine Model For Hermansky-Pudlak Syndrome Using CRISPR-Cas9

Nathanial Tolman, B.A.

Undiagnosed Disease Program NHGRI/NIH, Bethesda, MD

8:00 PM – 8:30 PM

Ask the Experts Table

Urea Cycle – Marshall Summar, M.D.

Peroxisome – Nancy Braverman, M.S., M.D.

MMA/PA – Charles Venditti, M.D., Ph.D.

FAOD – Jerry Vockley , M.D., Ph.D.

8:30 PM – 9:00 PM

Ask the Experts Table

Mitochondrial Disorders – Sumit Parikh, M.D.

GSD – Areeg El-Gharbawy. M.D.

Newborn Screening – Dieter Matern, M.D., Ph.D.

Lysosomal Disorders – Priya Kishnani, M.D.

Tuesday, April 5, 2016

7:00 AM – 8:00 AM

Breakfast –  Champions Ballroom E

7:30 AM –12:00 PM

Meeting Registration – Masters Registration Desk

Scientific Session 6

(8:00 AM – 10:00 AM)

Rethinking Diet and Medical Food Therapy

Masters Ballroom

Moderators Chuck Venditti and Melanie Gilingham

8:00 AM - 8:30 AM

Diet therapy in GSD

Priya Kishnani, M.D.

Duke University Medical Center, Durham, NC

8:30 AM - 9:00 AM

Nutrition, dietary supplements and medical food therapy in mitochondrial diseases

Marni Falk, M.D.

Children’s Hospital of Philadelphia, Philadelphia, PA 

9:00 AM -9:30 AM

Medical food and the brain

Kevin Strauss, M.D.

Clinic for Special Children, Strasburg, PA 

9:30 AM – 10:00 AM

Rethinking the role of medical food in MMA

Irini Manoli, M.D., Ph.D.

NHGRI/NIH, Medical Genomics and Metabolic Genetics Branch, Bethesda, MD

10:00 AM –11:00 AM

AM Coffee break  - Poster and  Exhibits open – Tournament Hall

Scientific Session 7

(11:00 AM –12:30 PM)

Metabolomics and Inborn Errors of Metabolism

Masters Ballroom

Moderators – Melanie Gillingham and Penelope Bonnen

11:00 AM – 11:30 AM.

Human hepatocyte biochemistry in a differentiated stable system. 

Kim Chapman, M.D., Ph.D.

Children’s National Medical Center, Washington, DC

11:30 AM – 12:00 PM

Targeted and untargeted metabolomics

Mike Milburn, Ph.D.

METABOLON, Inc., Research Triangle Park, NC

12:00 PM – 12:30 PM

Metabolomics in molecular diagnostics, matched metabolomics-exome data

Penelope Bonnen, Ph.D.

Baylor College of Medicine, Houston, TX

12:30 PM – 7:00 PM

Lunch and dinner on your own – Free Afternoon

1:00 PM – 6:00 PM

Optional tour to St. Augustine’s – additional fee - ticket required

5:00 PM – 7:00 PM

NAMA Reception – invitation only – Cascades Deck

7:00 PM – 8:00 PM

Diagnostic Unknowns – six pre-submitted cases, four slides each presented to a panel

Masters Ballroom

8:00 PM – 9:30 PM

SIMD Business Meeting and Award Presentations

Masters Ballrooom

Emmanuel Shapira SIMD Award (First Author of Best Publication in MGM)

SIMD Founders Award (Best Oral Presentation by a Trainee)

Wednesday, April 6, 2016

7:00 AM – 8:00 AM

Breakfast - Champions Ballroom E

7:30 AM – 12:00 PM

Meeting Registration – Masters Registration Desk

Scientific Session 8

(8:00 AM – 8:45AM)

Invited Talks

Moderators – Mike Bennett and Michael Geraghty

8:00 AM – 8:15 AM

Presentation from the 2015 Emmanuel Shapira Award Winner:
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
Curtis R.Coughlin II, MS, MBe
University of Colorado School of Medicine, Aurora, CO

8:15 AM – 8:45 AM

Building infrastructure for IEM in Latin America

Juan F. Caballo, M.D.

Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile

Past President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN)

Scientific Session 9

(8:45 AM – 10:00 AM)

Selected abstracts of Broad General Interest

Moderators – Klaas Wierenga and Gerry Berry

8:45 AM – 9:00 AM

The genotypic spectrum of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis Coughlin, MS, MBe

University of Colorado School of Medicine, Aurora, CO

9:00 AM – 9:15 AM

Quantitation of acyl-coenzyme A and acyl-carnitine in primary human hepatocytes from propionic acidemia patients

Matthew Olson, Ph.D.

HemoShear Therapeutics, LLC, Charlottesville,VA

9:15 AM – 9:30 AM

Functional characterization of NAGS protein using gene therapy

Parthasarathy Sonaimuthu, Ph.D.

Children’s National Medical Center, Washington, DC

9:30 AM – 9:45 AM

Novel approach for the treatment of six mucopolysaccharidoses by targeting NDST1

Ilona Tkachyova, M.Sc.

The Hospital for Sick Children, Toronto, Ontario, Canada

9:45 AM – 10:00 AM

Characterizing the molecular architecture of mitochondrial energy metabolism apparatus and its importance to clinical pathophysiology

Yudong Wang, Ph.D.

University of Pittsburgh, Pittsburgh, PA

10:00 AM -10:30 AM

AM Coffee Break  - Poster and  Exhibits open – Tournament Hall

Scientific Session 10

10:30 AM -12:30 PM

Evidence Based Medicine (or, what do we do now?)

Masters Ballrooom

Moderators – Amarilas Sanchez-Valle and Dwight Koeberl

10:30 AM – 11:00 AM

Eminence vs Evidence Based Medicine  

Georgianne Arnold, M.D.

University of Pittsburgh, Pittsburgh, PA

11:00 AM -11:30 AM

Making Decisions:  The Role of Condition Review for the Advisory Committee on Heritable Disorders in Newborns and Children

Alex Kemper. M.D., M.P.H., M.S.

Duke University Medical Center, Durham, NC

11:30  AM -12:00 PM

Evidence Based Protocols in practice, the PKU experience

Wendy Smith, M.D.

Maine Medical Center, Portland, ME

12:00 PM -12:30 PM

Consensus based Protocols as Evolving Tools, The Urea Cycle Disorders Experience

Marshall Summar. M.D.

Children’s National Medical Center, Washington, DC

12:30 PM – 12:45 PM

ICIEM 2017 – Presentation by Jose Abdenur, M.D.