Navigation Links
Genetic analysis reveals range of Rett syndrome
Date:3/11/2008

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome will enable affected families to receive a more accurate indication of their childs prognosis.

The research was undertaken by an international collaboration based on information provided by families and clinicians from around the world to the InterRett online database at the Telethon Institute for Child Health Research.

The results have just been published in the March edition of the prestigious international journal Neurology.

Report co-author, Dr Helen Leonard, who heads the Australian Rett Syndrome Study, said the findings have revealed a wide variability in the effects of the syndrome.

This is the first time that weve had quality information about a sufficient number of cases to be able to do a rigorous analysis comparing specific genetic mutations with they way the disorder is manifested in affected girls, Dr Leonard said.

While Rett syndrome is caused by a mutation on the MECP2 gene on the X chromosome, variations in the mutation determine the severity of symptoms.

Our analysis of eight common mutations that account for two-thirds of cases, showed considerable variation in abilities

Dr Leonard said the information would be of great value to families, clinicians and carers.

Many parents have found the lack of information about their daughters prognosis very distressing and will welcome a clearer indication of what they might expect in the future, Dr Leonard said.

Our findings really emphasised how much variability there is in the syndrome and we hope that information will assist with earlier diagnosis.

Dr Leonard said that girls with the milder form of Rett syndrome may retain some language, hand function and the ability to walk. In contrast, those with the severe form dont show the usual pattern of regression but are affected from birth.


'/>"/>

Contact: Liz Chester
elizabeth@ichr.uwa.edu.au
61-894-897-965
Research Australia
Source:Eurekalert

Page: 1

Related medicine news :

1. Genetic research unveils common origins for distinct clinical diagnoses
2. New stem cell technique improves genetic alteration
3. Einstein researchers genetically engineer immune cells into potent weapons for battling HIV
4. Genetic Test Predicts Response to Warfarin
5. New revelations in epigenetic control shed light on breast cancer
6. Researchers identify new genetic marker for breast cancer
7. Anti-Aging/Genetic Health Leader Suracell, Inc. Expands Internationally
8. Adult stem cell changes underlie rare genetic disease associated with accelerated aging
9. Genetic Factors for Smoking Boost Chronic Bronchitis Risk
10. Genetic factors in smoking also increase risk of chronic bronchitis
11. Dr. Robert Leonard First in New England to Offer Genetic Test for Male Pattern Baldness
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... ... October 13, 2017 , ... ... Pharmacy (SOP) alumni Hannah Randall, PharmD ‘17, and Jennifer Huggins, PharmD ’17, ... guideline updates for the primary prevention of cardiovascular diseases during the 15th ...
(Date:10/13/2017)... ... October 13, 2017 , ... Apple Rehab Shelton Lakes , which ... evacuation of the facility as part of a disaster drill on October 3rd. , ... and Shelton City Emergency Manager, as well as the Connecticut Long Term Care ...
(Date:10/13/2017)... N.J. (PRWEB) , ... October 13, 2017 , ... The ... Holly Day Market. Featuring a collection of specialty vendors and unique items from across ... personalized and quality-focused health and wellness services offered by the VNA. The boutique ...
(Date:10/13/2017)... ... 2017 , ... Global Healthcare Management’s 4th Annual Kids Fun Run brought out ... free event, sponsored by Global Healthcare Management’s CEO, Jon Letko, is aimed at getting ... children of all ages; it is a non-competitive, non-timed event, which is all about ...
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... ... will be giving viewers the lowdown on sciatica in a new episode of ... that focuses on current events and innovation and investigates each subject in-depth with ...
Breaking Medicine News(10 mins):
(Date:9/23/2017)... Janssen Biotech, Inc. (Janssen) announced today that ... U.S. Food and Drug Administration (FDA) for the Biologics ... treatment of moderately to severely active rheumatoid arthritis (RA). ... needed to further evaluate the safety of sirukumab in ... "We are disappointed ...
(Date:9/22/2017)... AVACEN Medical (AVACEN) announced that its CE-Marked ... those with the widespread pain associated with fibromyalgia in ... Essex, England commented, "I had ... no sleep at all, tremendous pain, with every movement ... [the AVACEN 100] enough, how this has and is ...
(Date:9/19/2017)... 2017   ZirMed Inc ., a recognized leader in ... it has been ranked #1 by its users for the ... 2017 User Survey. ZirMed was recognized as the top-ranked end-to-end ... medical centers over 200 beds and holds one of the ... survey history. ...
Breaking Medicine Technology: