Age-related macular degeneration (AMD) is the leading cause of blindness among the
elderly in developed countries. AMD is classified as either neovascular (NV-AMD) or non …

Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an
epigenetic process by which genes are expressed in a parent-of-origin specific manner …

Background As stem cells of the early embryo mature and differentiate into all tissues, the
mitochondrial complement undergoes dramatic functional improvement. Mitochondrial …

The umbilical cord and placenta are extra-embryonic tissues of particular interest for
regenerative medicine. They share an early developmental origin and are a source of vast …

Background Directed differentiation of human induced pluripotent stem cells (hiPSC) into
functional, region-specific neural cells is a key step to realizing their therapeutic promise to …

Harry Angelman, an English pediatrician, reported three cases of “Puppet Children” in 1965
(Angelman, 1965). These individuals displayed severe intellectual disability, ataxia, absent …

Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes
Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause …

Genomic imprinting is an epigenetic phenomenon resulting in parent-of-origin-specific gene
expression that is regulated by a differentially methylated region. Gene mutations or failures …

Precision medicine is the treatment of patients with therapy targeted to their specific
pathophysiology. This lofty ideal currently has limited application in clinical practice …

Stem cells hold promise to revolutionize modern medicine by the development of new
therapies, disease models and drug screening systems. Standard cell culture systems have …