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Small molecules and therapeutic potential for PWS

A publication resulting from this project was highlighted in an FPWR Research Blog post “Promising First Steps Towards Genetic Therapy for Prader-Willi Syndrome” (December 2016) Like most genetic disorders, there is no specific therapeutic intervention targeted to the molecular...

The role of SNORD116 in Prader-Willi syndrome (year 2)

Prader-Willi syndrome (PWS) is caused by a loss of genes normally expressed only from the paternal chromosome 15. About 70% of PWS cases arise from Type 1 and Type 2 deletions, which are about 5 million DNA base pairs...

Role of the lipid-derived satiety factor, oleoylethanolamide, in PWS

Prader-Willi Syndrome (PWS) is a complex genetic disorder characterized by an insatiable feeling of hunger and an irrepressible urge to overeat. If left uncontrolled, hunger and overeating can lead to morbid obesity, diabetes, cardiovascular disease and premature death. Why PWS causes...

Genome-wide survey of DNA methylation in PWS

Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder caused by an abnormality in the PWS critical region (PWSCR), a particular region of 15th chromosome (15q11-q13). Genomic imprinting refers to a phenomenon in which genes from specific parent can...

Evaluation of autism-like behaviors in mice deficient for Magel2

MAGEL2 is one of five genes in the Prader-Willi syndrome (PWS) critical domain on chromosome 15 that encodes a protein. Our group recently described a group of patients with mutations of MAGEL2 causing Prader-Willi features and autism. Autism spectrum disorder is...

Gut microbiome in individuals with PWS

Prader-willi syndrome is a genetic disorder caused by loss of a portion of a copy of chromosome 15.  Common features include early problems with muscle weakness and feeding followed by occult weight gain without an increase in food consumption...