Browsing Archive: August, 2012

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Epigenetics refer to inheritable changes beyond DNA sequence that control cell identity and morphology. Epigenetics play key roles in development and cell fate commitments and highly impact the etiology of many human diseases. A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. Despite the fact that MeCP2 was discovered about 20 years ago, our current knowledge about its molecular function is ...
Continue reading ...
 

Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Pediatr Neurol. 2012 Jul;47(1):25-9.

Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.

Source

Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.

Abstract

Consistently observed "strong eye gaze" has not been validated as a means of communication in girls with Rett syndrome, ubiquitously affected by apraxia, unable to reply either verbally...


Continue reading ...
 

RTT-specific Growth Charts

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Rett Syndrome Growth Analysis. Alan Percy, MD

I am pleased to announce that the growth analysis emanating from the Natural History Study has been accepted for publication in the journal, Neurology. It should appear in paper form later this year, but will be published online in the near future. The full citation will include the following: Tarquinio D, Motil K, Hou W, Lee H, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth Failure in Rett Syndr...
Continue reading ...
 

Neuren Pursues New Drug for RTT

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Pursuing the first Investigational New Drug (IND) for Rett syndrome. Neuren Pharmaceuticals announces a program to the FDA about a proposed Rett syndrome clinical trial.

In May 2012 Neuren Pharmaceuticals Ltd held a pre-IND meeting with the FDA Division of Neurology Products to discuss clinical development plans for the NNZ-2566 Rett Syndrome program. The company requested the meeting to seek input and guidance from the FDA for the first clinical trial in older patients with Rett syndrome. The...
Continue reading ...
 
 

Categories

free templates

Make a free website with Yola