Solving Medical Mysteries
Through Team Science

The Undiagnosed Diseases Network at ACMG 2017

The Undiagnosed Diseases Network will be at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Phoenix, Arizona from March 21-25, 2017. Attendees can stop by Booth #437 to chat with UDN investigators and learn more about the study.

UDN Speaker Presentations

Thursday, March 23, 1:30 PM – 3:30 PM

48th Annual March of Dimes Clinical Genetics Conference: The Undiagnosed Diseases Network – Changing the Paradigm of Rare Disease Diagnosis, Treatment and Research (full list of speakers and topics)

Friday, March 24, 3:45 PM – 4:00 PM

Abstract 37
Presenter: Matthew Wheeler (Stanford Clinical Site)
Title: Diagnostic Yield of Research Whole Exome Sequencing in Patients with Undiagnosed Diseases and Previously Insurer-Denied Clinical Exomes

UDN Poster Presentations

Thursday, March 23, 10:00 AM – 11:30 AM (odd poster presentations)

Poster 201
Presenter: Jill Mokry (Baylor Clinical Site)
Title: 17p13.3 Microdeletions Between YWHAE and LIS1 (PAFAH1B1) Cause a Unique Leukoencephalopathy

Poster 231
Presenter: Cecilia Esteves (UDN Coordinating Center)
Title: Diversity in Genomic Research: The Undiagnosed Diseases Network Experience

Poster 359
Presenter: Kimberly Splinter (UDN Coordinating Center)
Title: Does this patient sound like someone you know? Piloting an Internet case finding strategy in the Undiagnosed Diseases Network

Poster 407
Presenter: Kelly Schoch (Duke Clinical Site)
Title: Rare and Undiagnosed Diseases: The Value of Thinking Beyond the Exome

Poster 433
Presenter: Ellen Macnamara (NIH UDP Clinical Site)
Title: The Phenotypic Spectrum of Gorlin Syndrome, as Evidenced by a Father and Son in the Undiagnosed Diseases Program

Poster 709
Presenter: Jennifer Murphy (NIH UDP Clinical Site)
Title: Compound Heterozygous Mutations in SDHA Results in Mixed Phenotype with Features of Leigh Syndrome and Hereditary Pheochromocytoma

Poster 793
Presenter: Felicitas Lacbawan (NIH UDP Clinical Site)
Title: Costing the Diagnostic Odyssey: The-NIH Undiagnosed Disease Program Five-Year Experience

Friday, March 24, 10:30 AM – 12:00 PM (even poster presentations)

Poster 266
Presenter: Nicole Walley (Duke Clinical Site)
Title: Characterizing Patient Applications Not Accepted to the Undiagnosed Diseases Network (UDN)

Poster 334
Presenter: John Phillips III (Vanderbilt Clinical Site)
Title: Precision Medicine Successes from the Undiagnosed Diseases Network (UDN)

Poster 340
Presenter: Szabolcs Szelinger (UDN Collaborator)
Title: Diagnostic Utility of Collaborative Gene Matching Databases in Delineating a Novel Neurodevelopmental Syndrome Associated with a de novo NACC1 Mutation

Poster 462
Presenter: David Murdock (NIH UDP Clinical Site)
Title: Systemic large vessel arterial calcification in Fahr’s disease patients harboring truncating mutations in SLC20A2

Poster 542
Presenter: Vandana Shashi (Duke Clinical Site)
Title: Patient Narratives from the Undiagnosed Diseases Network (UDN): The Duke Clinical Site’s Experience

Poster 580
Presenter: Chris Lau (NIH UDP Clinical Site)
Title: Investigating non-coding variants in patients’ exome data: towards the characterization of germline DNA variants as potential contributor to the dysregulation of gene expression