Projects

Pig Models of Prader-Willi Syndrome for Pathophysiologic and Therapeutic Interventions

Overcoming the strong drive to overeat and obesity with negative impacts on life expectancy and life quality is of upmost and crucial importance for individuals with Prader-Willi syndrome (PWS) and their families. Despite advances in understanding the genetic causes of PWS and the establishment of different mouse models that mimic some clinical false

Evaluating endosomal recycling pathways in primary neurons from PWS individuals

Abstract MAGEL2 is a gene frequently deleted or mutated in individuals affected with PWS. Furthermore, mice lacking MAGEL2 display symptoms similar to those seen in PWS children. However, a critical barrier to our understanding of MAGEL2’s link to PWS has been determining its function within cells. Recently, my group has solved this enigmatic false

The gut microbiome in Prader-Willi syndrome

Abstract Prader-Willi syndrome individuals show impaired social behaviors and altered oxytocin levels in the brain, but the reason for this remains unknown. Here we will test whether changes in the gut bacterial content in PWS could perturb social behaviors and related changes in oxytocin. In addition, we will examine whether a probiotic bacteria false

The molecular mechanism of SNORD116 action (year 2)

Abstract SNORD116 is a C/D box small nucleolar RNA that is critical for the etiology of PWS, as microdeletions encompassing only SNORD116 cause a PWS-like phenotype. The molecular functions of SNORD116 have been elusive, preventing therapy design. We showed that SNORD116 is not a typical snoRNA, as it associates with different proteins and has a false

A transcriptome-wide approach to identifying RNA targets of the Prader-Willi locus snoRNAs (year 2)

Abstract Prader-Willi syndrome (PWS) traits are genetically determined by the loss of expression of genes from the paternally inherited small region located on chromosome 15. These genes are transcribed to brain-specific small nucleolar RNAs (snoRNAs) whose function is still unknown. snoRNAs were traditionally assigned a role in ribosomal RNA false

Improving social functioning in Prader-willi syndrome (year 2)

Abstract Social isolation and impaired social cognition underpins loneliness, depression and anxiety, contributes to poor health and reduced longevity. They also are associated with such cognitive consequences as impaired executive functioning, cognitive decline, a bias towards negative, depressive thinking, and oversensitivity to perceived social false

Cellular role of MAGEL2 in Prader-Willi and Schaaf-Yang syndromes

Abstract PWS is caused by the loss of function of a set of genes. One of these genes, named MAGEL2, produces a protein that is important for the normal development of the brain, muscles and the endocrine system. Loss of function of MAGEL2 alone causes a disorder that is related to PWS, called Schaaf-Yang syndrome (SYS). To date, researchers have false

Consequences of targeted SNORD116 deletion in human and mouse neurons

Abstract The role of the brain in controlling food intake is increasingly apparent, with studies finding that genes related to obesity often play a role in brain regions crucial for feeding, appetite, and satiety. Prader-Willi syndrome, one of the most common forms of genetic obesity, results increased food intake (hyperphagia) leading to severe false

ComuFaces: The perception of communicative faces by infants with Prader-Willi syndrome (year 2)

Neuropsychological studies have detailed several cognitive deficits in Prader-Willi Syndrome (PWS), among which the observation of altered social interactions, with notable difficulty in interpreting and responding to social information. The integration of the information from the face and the voice is important for our social communication as false

Comufaces: The Perception of Communicative Faces by Infants with PWS (Year 2)

Neuropsychological studies have detailed several cognitive deficits in Prader-Willi Syndrome (PWS), among which the observation of altered social interactions, with notable difficulty in interpreting and responding to social information. The integration of the information from the face and the voice is important for our social communication as false

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