Unexpected function of small nucleolar RNAs explains cause of some diseases
Scientists have discovered unexpected functions of small nucleolar RNAs (snoRNAs) that explain the cause of some diseases. They found that snoRNAs not only modify ribosomes, but can also regulate alternative splicing. Through this second function, they regulate protein function and inhibit the generation of wrong protein variants. Thus, upon the loss of snoRNAs the formation of wrong protein variants can no longer be prevented, leading to diseases like Prader-Willi syndrome and several cancers, report scientists. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - June 7, 2016 Category: Science Source Type: news
Scientists find new roles for old RNAs
Scientists have discovered unexpected functions of small nucleolar RNAs (snoRNAs) that explain the cause of some diseases. The loss of small nucleolar RNAs is associated with a number of diseases, including Prader-Willi syndrome and several forms of cancers; and genetic duplications of some snoRNAs could play a role in autism. However, it is not clear how the change in snoRNA expression could lead to these diseases. Using RNA sequencing and molecular biology techniques, the researchers found that snoRNAs not only modify ribosomes, but can also regulate alternative splicing. Through this second function, they regulate prote...
Source: ScienceDaily Headlines - June 6, 2016 Category: Science Source Type: news
Unexpected function of small nucleolar RNAs explains cause of some diseases
(The Hebrew University of Jerusalem) Scientists have discovered unexpected functions of small nucleolar RNAs (snoRNAs) that explain the cause of some diseases. They found that snoRNAs not only modify ribosomes, but can also regulate alternative splicing. Through this second function, they regulate protein function and inhibit the generation of wrong protein variants. Thus, upon the loss of snoRNAs the formation of wrong protein variants can no longer be prevented, leading to diseases like Prader-Willi syndrome and several cancers. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - June 6, 2016 Category: Cancer & Oncology Source Type: news
Beloranib reduces weight in Prader-Willi syndrome, but concerns remain
BOSTON – Prader-Willi syndrome patients lost more than 4% of their body weight over a 26-week period with the investigative antiobesity drug beloranib, compared with a similar gain in patients taking... (Source: Clinical Endocrinology News)
Source: Clinical Endocrinology News - May 17, 2016 Category: Endocrinology Source Type: news
Beloranib reduces weight in Prader-Willi syndrome, but concerns remain
BOSTON – Prader-Willi syndrome patients lost more than 4% of their body weight over a 26-week period with the investigative antiobesity drug beloranib, compared with a similar gain in patients taking... (Source: Family Practice News)
Source: Family Practice News - May 17, 2016 Category: Primary Care Source Type: news
Zafgen and the fight against obesity
Presented at the annual conference of the Endocrine Society, a novel drug may offer hope in Prader-Willi Syndrome and obesity.
Medscape (Source: Society for Endocrinology)
Source: Society for Endocrinology - April 7, 2016 Category: Endocrinology Source Type: news
Novel Drug May Offer Hope in Prader-Willi Syndrome, ObesityNovel Drug May Offer Hope in Prader-Willi Syndrome, Obesity
Beloranib reduces weight and hyperphagia in Prader-Willi syndrome and may also hold promise for other severe obesity conditions, but first the company must prove that it doesn't raise thrombotic risk. Medscape Medical News (Source: Medscape Diabetes Headlines)
Source: Medscape Diabetes Headlines - April 6, 2016 Category: Endocrinology Tags: Diabetes & Endocrinology News Source Type: news
Rare disorder causes constant hunger
Peggy Ickenroth photographed Suzanne, a 12-year-old with Prader-Willi syndrome. The genetic disorder's most prominent symptom is an insatiable appetite -- you never feel full. (Source: CNN.com - Health)
Source: CNN.com - Health - March 14, 2016 Category: Consumer Health News Source Type: news
Zafgen's Phase III trial of obesity drug Beloranib shows efficacy
Biopharmaceutical company Zafgen announced that the Phase III trial of its experimental obesity drug Beloranib in Prader-Willi syndrome (PWS) has achieved co-primary efficacy endpoints. (Source: Drug Development Technology)
Source: Drug Development Technology - January 21, 2016 Category: Pharmaceuticals Source Type: news
What Types of Hand Stereotypies are Associated with Rett Syndrome?
Discussion
Lady MacBeth and patients with Rett Syndrome (RS) are obviously not alike other than in making similar hand motions. In Shakespeare’s MacBeth (5.1.25-30), Lady MacBeth was driven into madness because of her murderous guilt and tries to wash the blood off her hands as she sleepwalks.
Doctor. What is it she does now? Look, how she rubs/ her hands.
Gentlewoman. It is an accustomed action with her, to seem thus/ washing her hands. I have known her continue in this/ a quarter of an hour.
In 1954, Dr. Andreas Rett observed 2 girls who were also making repetitive handwashing motions and later published a cas...
Source: PediatricEducation.org - January 11, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Second patient dies during clinical trial for obesity drug
Stephen FellerWASHINGTON, Dec. 2 (UPI) -- A second patient has died in a clinical trial for the drug beloranib, which is being tested for use with a rare obesity disorder called Prader-Willi syndrome. (Source: Health News - UPI.com)
Source: Health News - UPI.com - December 2, 2015 Category: Consumer Health News Source Type: news
Aliya Saleem is one of the heaviest girls in the world 'due to genetic condition'
Aliya Saleem, 18 months, of Jharkhand, eastern India, may be suffering from Prader-Willi syndrome, a rare disorder characterised by obsessive eating and learning difficulties. (Source: the Mail online | Health)
Source: the Mail online | Health - December 2, 2015 Category: Consumer Health News Source Type: news
