A new genetic
discovery found that children who suffer from symptoms like liver disease
irregular tear production and developmental delays have NGLY1 deficiency as an
inherited genetic disorder according to the CNN article. In 2014, eight
patients were confirmed to share these symptoms and genetic mutations. However,
this is a rare condition, which makes it extremely difficult for scientists to
study the DNA of patients with this condition. Yet, the Human Genome Project
essentially has facilitated scientists with easier access to identifying new or
unknown genetic mutations for further research. The deficiency of NGLY1 is
caused by two mutations in the NGLY1 gene.
A child by the name of Grace Wilsey
was born with NGLY1 deficiency. Though she visited approximately 100 doctors,
only a scientist by the name of Matthew Bainbridge was able to sequence Grace’s
genome and find the mutation of the NGLY1 gene to be the destructive gene to be
causing Grace not to produce many tears and to be suffering from other symptoms.
He compared the sequence to other genome sequences and mutations that were
signaled out by other scientists and with this he concluded the mutation to be
the cause of the symptoms. It is incredible how much geneticists can do for us
in a stressful time like Gracie experienced. The fact that the sequence of our
DNA allows scientists to denote any abnormalities or better said destructive
mutations (not all are bad) just amazes me!
The title of your post made me want to read your article. I thought about how I usually never cry so maybe i might have NGLY1 deficiency. It's very intriguing knowing that scientists can figure out problems or deficiencies in basically any trait a human has.
ReplyDeleteI bet some parents hoped their kids had NGLY1 deficiency haha but this article is really cool. Never knew someone can actually not be able to cry.
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