The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. The Rett Syndrome Research Trust, with generous support from the Rett Syndrome Research Tr...
Continue reading ...

Tekið var viðtal við foreldra Guðrúnar Sædal og stóra bróður hennar, Friðrik Sædal, og birt í Fréttatímanum þann 16. ágúst 2013 í tilefni af því að hann er að hlaupa fyrir Rannsóknarsjóð Guðrúnar í Reykjavíkurmaraþoninu þann 24. ágúst nk.

http://www.frettatiminn.is/daegurmal/draumurinn_er_ad_laekning_vid_rett_syndrome_finnist/


Continue reading ...

Rett Syndrome is a spectrum disorder with a broad range of symptom severity. Some girls can run, have some use of their hands and can speak in short sentences while others cannot even sit or manage to hold their head up. One reason for this variation is the child's own unique genetic make-up - in other words, variations in other genes that impact the severity of the Rett mutation. Identification of modifier genes has therefore been a critical component of RSRT's research program as the modif...

Continue reading ...