Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.

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Logan is an 18-year old who loves to play hockey, swim with dolphins and take the occasional spin around Orlando Speedway. As part of his recent graduation events he participated in a seven day hiking trip in the Rocky Mountains, in a trail rider with his classmates and father close by. The fact that Logan has neurodegenerative disease which severely restricts his independent mobility does not stop him. As his father, Rick, says, “We just adapt and find a way to make it happen.”

Logan Miller has an ultra-rare disease – the cause of which has, for the past 14 years, remained undiagnosed. Now researchers believe they may be close to a diagnosis. In fact, the decision to enroll Logan into the genomics study has brought the Miller family the closest they’ve been to understanding their son’s disease since it first became apparent he was not developing at the same pace as his peers. He went on to suffer memory loss, muscle weakness and eye movement problems.

“We enrolled him because Logan has always wanted a diagnosis, and we want to know, not least because his illness is progressive,” said Debbie Miller, Logan’s mother. “This study seemed a good fit.”


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