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Category: rare disease

Ice Bucket Challenge's 2nd anniversary celebrates its gene discovery

Throwback to 2014, the year of the Ellen DeGeneres Oscar selfie, Pharrell's giant hat,and the Ice Bucket Challenge.

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Google Cardboard may look like a cheap toy, but it just saved this baby's life

Google Cardboard looks like the packing material, but the gadget was just used by doctors at Nicklaus Children's Hospital in Miami to save the life of a baby who had been sent home to die.  Teegan Lexcen was born in August with heart and lung defects so rare that doctors had never before seen a...

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Posted:
Sep 4, 2015

Author:
Emily S

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Payday for Ice Bucket Challenge’s Mocked Slacktivists

When Americans were giddily drenching themselves with ice water during the “ice bucket challenge” a year ago, the cognoscenti rolled their eyes.  The aim of the ice bucket challenge was to raise money to combat A.L.S., also known as Lou Gehrig’s disease, a neurodegenerative ailment that affects...

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Posted:
Nov 7, 2014

Author:
Emily S

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Terminally Ill Woman Brittany Maynard Has Ended Her Own Life / Brittany Maynard Story Leads to Record Digital Traffic for People

People.com:  Brittany Maynard, who became the public face of the controversial right-to-die movement over the last few weeks, ended her own life Saturday at her home in Portland, Oregon. She was 29.  "Goodbye to all my dear friends and family that I love.

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Posted:
Jul 21, 2014

Author:
Maggie

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One of a Kind: What do you do if your child has a condition that is new to science?

Matt Might and Cristina Casanova met in the spring of 2002, as twenty-year-old undergraduates at the Georgia Institute of Technology. Cristina was an industrial-design major with an interest in philosophy; Matt was a shy computer geek obsessed with “Star Trek.” At first, Cristina took no notice of...

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Posted:
May 27, 2014

Author:
Maggie

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The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

We are the fathers of two patients with a newly diagnosed syndrome that is highlighted in the study by Enns et al.1 Our children are two among a handful of others in the world with this disease caused by mutations in the NGLY1 gene. It is the first recognized disorder of deglycosylation. We fully...

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