The Undiagnosed Diseases Network at ACMG 2017

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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

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Finding the New Normal

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Finding the New Normal, by Chad Smith

Introduction

My name is Chad Smith, also known as “Chad the Dad.” My wife, Becky, and I are the proud parents of two wonderful children, Aleah who is eight years old, and Blake, who is five years old. Blake has a long list of medical challenges, which continue to plague his life. Throughout the past five years our family has grown and learned many different tricks in dealing with the trials that come with being Parents of a Medically Challenged Kid. Continue Reading →

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UDN Webinar Recording and Transcript

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We recently held a webinar, hosted by the National Organization for Rare Disorders (NORD), to provide an overview of the UDN, discuss the application and evaluation process, and review financial considerations. Listeners also had the opportunity to hear from a patient who has been through the UDN clinical and research evaluation. Below is a video recording of this webinar along with an interactive transcript.
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The Long Road: A Pemphigus Patient’s Journey to Diagnosis

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Pemphigus and pemphigoid (P/P) are rare, autoimmune blistering diseases that affect the skin and mucous membranes, causing lesions that do not heal. Like many suffering from a rare disorder, the diagnostic journey for a P/P patient is complicated and stressful. On average, this journey involves five different doctors over a period of ten months before a patient receives a correct diagnosis. (Source: pemphig.us/diagnostic-data ) Once a correct diagnosis is received, P/P patients begin the long process of managing disease activity. There is no cure for P/P. Many patients are able to achieve a state of remission; however, insurance regulations make it difficult for some patients to receive the most effective treatments.

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“Together We Are Strong” Comes to Life

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Running for Rare Diseases Team Dinner

“Living with a rare disease, for us, means living with the resilient spirit of Bug. It means never giving up and constantly facing the unknown with great bravery and great joy,” Kelly De Angelis said, as she ended her moving speech to the teary-eyed audience filling the atrium at Harvard Medical School on the evening of Saturday, April 16.

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Running for Rare Diseases 2016 Kickoff

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Running for Rare Diseases, also known as Running4Rare, kicked off its 2016 marathon season with a fun-filled event at the beautiful Harpoon Brewery on March 22, inviting runners, patient partners, and family members to come together and get excited for the upcoming races.

This group is unlike any other charity organization that runs in the Boston Marathon. In last year’s race, over 200 non-profit organizations raised upwards of $28.3 million for charity, but Running4Rare has a unique angle appropriate for its rare patients it supports: each marathoner in Running4Rare is matched with a patient partner who has a rare disorder.
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What Do You Do When N=1?

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Precision medicine is generating a lot of enthusiasm, and in the long run, rightly so. Using genomics to understand and treat disease at its core will up end traditional notions of diagnosis, prognosis and medicine. There’s a lot of talk of how to deliver “the right drug to the right patient at the right time.”
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