Tuesday, 11 April 2017

Research news and commentary #3 for 2017

Urine test may be able to diagnose obstructive sleep apnea in children with Down Syndrome
 Massachusetts General Hospital, 7 April 2017
A study from Massachusetts General Hospital (MGH) investigators raises the possibility of identifying children with Down syndrome who may also have obstructive sleep apnea (OSA) without the need for expensive and inconvenient sleep studies ...
  • Ibrahim Elsharkawi et al, Urinary Biomarkers and Obstructive Sleep Apnea in Patients with Down SyndromeSleep Medicine, abstract published online 7 March 2017
  • The abstract is available to read online without charge. The full text of the original study report is available for purchase online.
Case Western Reserve University Researchers Turn Urine into Research Tools
Case Western Reserve University School of Medicine, 28 March 2017
One of the biggest challenges in studying Down syndrome is finding the right research model. Animals and established cell lines are limited in their ability to mimic human disease, and results don’t always translate to patient populations. Stem cells hold enormous potential as research tools that can be collected directly from patients and grown into innumerable cell types. But harvesting stem cells can be tricky and invasive—a tough sell to institutional review boards when dealing with children or patients with intellectual disability.

Now, researchers from Case Western Reserve University School of Medicine have developed a breakthrough technique to harvest cells directly from urine, and grow them into durable, clinically relevant stem cells to study Down syndrome ...

Crnic scientists publish groundbreaking leukemia research in the journal 'Cell’
Global Down Syndrome Foundation, February 2017
Nationally renowned Crnic scientists, Dr. Joaquin Espinosa— the associate director for science at the Linda Crnic Institute for Down Syndrome, a Global affiliate— and Dr. Kelly Sullivan, teamed up with Northwestern University scientists and published findings that can lead to novel therapeutic approaches for the treatment of a specific subset of leukemias ..

My Friend Lovey (15m 21s audio file)
Mary-Ann Allen, Global Down Syndrome Foundation/Story Collider, July 2016
Mary Ann Allen is a Sie post-doctoral fellow at the Crnic Institute for Down Syndrome— a Global affiliate. In this 15 minute story Allen takes listeners through the journey that led her to studying Down syndrome today. The researcher shares how she was mainly inspired by her childhood friend, Lovey, who has Down syndrome. When the opportunity to study Down syndrome crossed Allen’s path a couple years back she said she jumped at the chance because she “loved Lovey.” But, once Allen started her research what she discovered wasn’t was she was expecting.

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