Projects Archive - Foundation for Prader-Willi Research | Genetic Therapy

The Functional Development of Hunger Neurons in Prader-Willi Syndrome

Funding Summary AgRP ('hunger') neurons are found in the hypothalamus and control feeding, metabolism and compulsive behaviors. There is evidence that AgRP neurons may be overactive during development in PWS, which might lead to some of the characteristics of PWS. In this project, Dr. Dietrich will use a cutting edge technology developed in his false

CRISPR-mediated molecular dissection of Prader-Willi syndrome

Funding Summary The PWS region of chromosome 15 consists of several genes. While we know the loss of all these genes together will lead to the characteristics of PWS, we still don’t know exactly what is the contribution of each gene. In this project, Dr Talkowski's team will use CRISPR technology (a very precise way to cut out parts of the genome) false

Targeting SMCHD1 to address the underlying cause of PWS and SYS

Funding Summary Associate Professor Blewitt and her research team study how genes shift between ‘sleeping’ to ‘awake’ states, and how this impacts a range of diseases.  “A protein called SMCHD1 keeps many genes in their sleeping state,” Associate Professor Blewitt said. “We discovered that SMCHD1’s targets include some of the maternal genes that false

CRISPR-mediated 3D modeling, molecular dissection and epigenetic profiling of PWS

Deletions on chromosome 15 in the bands labeled 15q11.2-q13 on the chromosome inherited from a subject’s father cause Prader-Willi syndrome (PWS). The unique nature of this causative genetic event has been known for many years, but the precise manner in which it causes the developmental abnormalities of PWS is not completely understood since the false

Therapeutic Potential of Blocking Zinc Finger Protein 274 Binding to the PWS Locus

Our goal is to understand the molecular pathways disrupted in Prader-Willi syndrome (PWS) and to develop therapeutic interventions for this disorder. Through the biological process called genomic imprinting, the chromosome 15 that is inherited from the father has a set of genes that is switched on while the same set of genes on the chromosome 15 false

The molecular mechanism of SNORD116 action and possible SNORD116 substitution strategies

The loss of two snoRNAs, SNORD115 and SNORD116, plays a central role in the development of Prader-Willi syndrome. However, the normal function of SNORD116 is still unclear, making it difficult to understand what goes wrong when SNORD116 is lost. Dr. Stamm’s group is exploring how SNORD116 influences other genes, and their preliminary studies false

Preclinical studies of a novel epigenetic therapy for Prader-Willi syndrome

Despite the significant progress in understanding the molecular basis underlying Prader-Willi syndrome, little advance has been achieved in developing the treatment specifically targeting to the molecular defect. The SNORD116 between the SNRPN and UBE3A genes is important for the major features of PWS. The host transcripts and SNORD116 in the false

Reactivation of the PWS locus via disruption of the ZNF274 silencing complex (year 2)

Through a normal biological process called genomic imprinting, the chromosome 15 that is inherited from the father has a set of genes that are switched on while the same set of genes on the chromosome 15 inherited from the mother are switched off. In Prader-Willi syndrome (PWS), there is no normal copy of the paternal chromosome 15 so patients false

Activation of silenced genes in Prader-Willi syndrome

The genetic causes of Prader-Willi syndrome (PWS) are known, including as a complex disorder involving imprinted genes that normally only function after inheritance from the father. A dozen genes contribute to the clinical problems in PWS, although what most of these genes do is poorly understood. Additionally, although numerous mouse models that false

Reactivation of the PWS locus via disruption of the ZNF274 silencing complex

Through a normal biological process called genomic imprinting, the chromosome 15 that is inherited from the father has a set of genes that are switched on while the same set of genes on the chromosome 15 inherited from the mother are switched off. In Prader-Willi syndrome (PWS), there is no normal copy of the paternal chromosome 15 so patients false

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