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A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder.
DOT1L is an evolutionarily conserved gene found in a broad range of species from yeast to man.
<p>A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the <a href="file:///C:/Users/rxnatara/AppData/Local/Microsoft/Windows/INetCache/Content.Outlook/DJZEC7Z1/nri.texaschildrens.org">Jan and Dan Duncan Neurological Research Institute</a> (Duncan NRI) at Texas Children’s Hospital, has discovered that gain-of-function variants in the <em>DOT1L </em>gene cause a new disorder. Further studies revealed that the majorit...
A clinical RNA sequencing platform at SickKids, the first of its kind in Canada, offers insights into complex genetic conditions and the future of precision diagnostics.
In her first 19 months, Maddie Kilner has experienced dozens of seizures, spent weeks in Toronto's SickKids hospital and braves 16 syringes of medication a day. She's among the handful of children in Canada who've been diagnosed with the rare genetic disorder SCN8A.