"Stories of Genome Sequencing in Medical Diagnoses" 16 posts Sort by created date Sort by defined ordering View as a grid View as a list

Genome Sequencing Brings Hope to La Jolla Teen

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When ten days = a lifetime: Rapid whole-genome sequencing helps critically ill newborn

It’s an ‘edge-of-your-seat’ story: The newborn’s heart had stopped multiple times in the hours since her birth. Her doctors at Lucile Packard Children’s Hospital Stanford had tried everything to help her, but her situation was dire. The baby had an unusually severe form of an inherited cardiac condition called long QT syndrome. The syndrome, which is most often diagnosed in older children or adults, can be caused by a mutation in any of several genes; until the doctors knew exactly which genetic mutation was causing the condition they wouldn’t know what drug would be most likely to help. The stakes were high: by her second day of life she’d received an implantable defibrillator and several intravenous drug infusions.

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New service to help untangle the mysteries of DNA

An athlete in both high school and college, Julie Prillinger had no idea anything was wrong with her until she went for a physical for a new job. The doctor detected something unusual in the rhythm of her heartbeat and referred her to a cardiologist.

Tests showed that Prillinger had an inherited condition of the heart called hypertrophic cardiomyopathy. It is caused by mutations in genes involved in the heart’s muscle cells. Those mutations typically disorganize those cells, altering the heart’s walls and disrupting the flow and force of blood out of the heart. It is the most common cause of sudden death in young people and one of the most common inherited cardiovascular disorders

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Finding Hope in Whole Genome Sequencing: Retta Beery at TEDxYouth@SanDiego 2013

Retta Beery's twins, Noah and Alexis, were born with a neurologic disorder. Through research and advocacy, Retta discovered that her twins were misdiagnosed and then, eight years later, would use whole genome sequencing to give an exact diagnosis with additional treatment that saved Noah and Alexis's lives.

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Medical Mystery: Monica

Scientists sequenced DNA from a young woman’s lung cancer tumor in hopes of finding the genetic changes that enabled it to keep growing.

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All in the family: getting to the heart of the matter

Rick’s gene sequencing had revealed a genetic condition called Hereditary Neuropathy with liability to Pressure Palsies (HNPP)

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“We Gained Hope.” The Story of Lilly Grossman’s Genome

ADCY5 and DOCK3 mutations was the cause of Lily's muscle spasms and muscle weakness

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Undiagnosed Diseases Program (UDP) Discovers a New Disease

New NT5E mutation discovered in 3 families, causing calcium deposits building up in the arteries of their legs and in the joints of their hands and feet, resulting in pain and cramping, poor circulation, and reduced mobility.

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Harnessing the full 'omics potential of personalized medicine

A study by Stanford University's Michael Snyder, Ph.D. which demonstrated an integrative personal omics profile (iPOP) approach to personalized medicine can identify disease risks from a genomic sequence and can monitor disease states through other molecular components

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DNA Test for Rare Disorders Becomes More Routine

DNA sequencing, more accessible than ever, opens new doors for diagnoses

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Kids who don't cry: New genetic disorder discovered

Doctors discover NGLY1 mutations in Grace Wilsey.

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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

The newly named disease is called NGLY1 deficiency has been found in eight children with mutations in the gene encoding for N-glycanase 1, an enzyme that "recycles defective products from a cellular assembly line."

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One in a Billion: A boy's life, a medical mystery

Nicholas Volker is a little boy with a rare, devastating disease. In a desperate bid to save his life, Wisconsin doctors decide to push medicine's frontier.

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Doctor Survives the Cancer He Studies

Using advanced sequencing and analysis technology, researchers at The Genome Institute and their colleagues have helped their fellow doctor, Lukas Wartman, survive the cancer he studies.

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Genome study solves twins' mystery condition

Sequencing determines SPR mutation in twins.
 

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