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DNA sequencing / Molecular biology / Loeys–Dietz syndrome / Exome sequencing / Genetics / Marfan syndrome / Illumina / Mutation / Medical genetics / Biology / Medicine / Health


October[removed]A Father and Daughter’s Journey Through the Genomics of Disease Illumina exome sequencing may have uncovered the mutation responsible for a young girl’s rare genetic disorder.
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Document Date: 2014-01-22 16:23:26

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City

San Francisco / Baltimore / /

Company

Illumina Inc. / Beatrice / /

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Event

Man-Made Disaster / Person Communication and Meetings / /

Facility

Washington University / University of Washington / Baylor College of Medicine / Johns Hopkins University / The Broad Institute / /

IndustryTerm

biotechnology investor / research / /

MedicalCondition

vascular disease / Rare diseases / nevus flammeus / newly described disorder / myopathy / Bea’s disorder / considerable inflammatory component / hypertelorism / muscle weakness / Beals-Hecht syndrome / disorder / mild pectus excavatum / young girl’s rare genetic disorder / disease / distal arthrogryposis / arthrogryposis / genetic connective tissue disorder / joint contractures / flat feet / Marfan syndrome / Loeys-Dietz syndrome / deficiency / inflammation / Beatrice’s rare disease / syndrome / disorders / genetic disorders / /

Organization

Harvard Medical School / University of Washington / Johns Hopkins University / Broad Institute / Baylor College of Medicine / Washington University / Stanford / /

Person

Irina Khrebtukova / Victor McKusick / Andrew Fire / Gary Schroth / Bea / Andy / David Valle / Jay / Alan Beggs / Hugh Rienhoff / Lisa Hane / /

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Position

physician / entrepreneur / one of the members of the TGF-ß superfamily / professor / President and Chief Executive Officer / pediatrician / original model / /

ProvinceOrState

California / /

Technology

Genomics / biotechnology / functional genomics / sequencing technologies / /

URL

http /

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