Journal of Blood Research & Hematologic Diseases

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Modeling Neuro Developmental Disorders in a Dish

The leading manifestation of brain dysfunction is intellectual disability, affecting approximately 3% of the general population. Given the uniqueness and the complexity of human cognition and behavior, studies in humans are essential to understand the role of the multitude of genes involved in these processes. We previously developed IPSC from patients with MECP2 duplication syndrome carrying different duplication sizes, to study the impact of increased MePC2 dosage in human neurons. MECP2 duplication syndrome is a severe neurodevelopmental disorder in males, characterized by severe neurodevelopmental delay with onset at birth, limited or absent speech, hypotonia, epilepsy, autism and motor dysfunction.

Special Features

Full Text

View

Track Your Manuscript

Scheduled supplementary issues

View More »

Media Partners

GET THE APP