Potential of Epigenetic Therapy for Prader-Willi Syndrome

Publication date: Available online 25 July 2019Source: Trends in Pharmacological SciencesAuthor(s): Sung Eun Wang, Yong-hui JiangPrader-Willi syndrome (PWS) is a neurobehavioral and epigenetic disorder caused by the deficiency of paternally expressed genes in the chromosome 15q11-q13. This unique molecular defect renders PWS an exciting opportunity to explore epigenetic therapy. Here, we briefly highlight recent findings from small molecule screening and CRISPR/Cas9-mediated epigenome editing that offer promising therapeutic options along with the challenges that remain in developing a successful epigenetic therapy for PWS in humans.
Source: Trends in Pharmacological Sciences - Category: Drugs & Pharmacology Source Type: research

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Osian Llewellyn, from South Wales, was diagnosed with Prader-Willi syndrome when he was two-and-a-half. This caused him to have weak muscles, which provide his spine with 'no support'
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
CONCLUSIONS: Rearing a chilld with PWS may lead to decreased QOL. Psychological status of caregivers should be highlighted and social support should be given to families with PWS children. PMID: 31520366 [PubMed - as supplied by publisher]
Source: World Journal of Pediatrics : WJP - Category: Pediatrics Authors: Tags: World J Pediatr Source Type: research
Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Trinity Leonard, from Washington state is convinced her son Peter has Prader-Willi syndrome, which is thought to affect one in every 15,000 people.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Authors: Demir K, Konakçı E, Özkaya G, Kasap Demir B, Özen S, Aydın M, Darendeliler F Abstract Many new features have recently been incorporated to ÇEDD Çözüm / Child Metrics, an online and freely accessible scientific toolset. Various auxological assessments can now be made with data of children with genetic diseases (Prader Willi syndrome, Noonan syndrome, Turner syndrome, Down syndrome, and Achondroplasia) and preterm and term newborns. More detailed reports for height, weight, and body mass index (BMI) data of a given child are now available. Last but not least, office...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Binge eating (BE) is a heritable trait associated with eating disorders and involves episodes of rapid, large amounts of food consumption. We previously identified cytoplasmic FMR1-interacting protein 2 (Cyfip2) as a genetic factor underlying compulsive-like BE in mice. CYFIP2 is a homolog of CYFIP1 which is one of four paternally-deleted genes in patients with Type I Prader-Willi Syndrome (PWS), a neurodevelopmental disorder whereby 70% of cases involve paternal 15q11-q13 deletion. PWS symptoms include hyperphagia, obesity (if untreated), cognitive deficits, and obsessive-compulsive behaviors. We tested whether Cyfip1 hap...
Source: G3: Genes Genomes Genetics - Category: Genetics & Stem Cells Authors: Tags: Genetics of Sex Source Type: research
A, Ragusa L, Rutigliano I, Sacco M, Salvatoni A, Scarano E, Stagi S, Tornese G, Trifirò G, Wasniewska M, Fischetto R, Giordano P, Licenziati MR, Delvecchio M, Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology Abstract Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid poten...
Source: Growth Hormone and IGF Research - Category: Endocrinology Authors: Tags: Growth Horm IGF Res Source Type: research
Condition:   Prader-Willi Syndrome Interventions:   Other: Placebo;   Drug: Guanfacine extended release (GXR) Sponsors:   NYU Langone Health;   Winthrop University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Prader-Willi Syndrome Interventions:   Other: Placebo;   Drug: Guanfacine extended release (GXR) Sponsors:   NYU Langone Health;   Winthrop University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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