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:3/2/2015)... This year, the National Multiple Sclerosis Society’s annual awareness ... people across the country to unite, raise awareness, ... their best lives. MS Awareness Week is a special week ... the Society’s vision of a world free of MS. ... the central nervous system, interrupts the flow of information within ...
(Date:3/2/2015)... 02, 2015 Four Seasons Resort Maui at ... 25th anniversary this year, having officially opened its doors on ... resort is honoring over 70 employees who started on Day ... amongst the approximately 400 original employees. The celebration will ... Lawn. , This Four Seasons flagship resort, the ...
(Date:3/2/2015)... Houston, TX (PRWEB) March 02, 2015 ... CV? How should physicians request references? When are interviews ... physicians analyze employment opportunities?, Both training and practicing physicians ... answers to these questions and more at the PracticeLink ... March 18. The drop-in Job Fair is from 5:30 ...
(Date:3/2/2015)... Éminence Organic Skin Care, the leader ... to announce the launch of the Balance Collection, an ... solution for those with combination skin. The Balancing Masque ... jar to separate the products, consists of the Charcoal ... Moisturizer Duo, also in a divided jar, contains both ...
(Date:3/1/2015)... (PRWEB) March 02, 2015 Security ... the ancillary benefits market, announced the addition of ... PrimeStar Individual Vision Insurance launched today, complete with ... plan will utilize the VSP® Vision Care network ... the private practice space. The PrimeStar Select Vision ...
Breaking Medicine News(10 mins):Health News:Every Connection Counts During MS Awareness Week 2Health News:Every Connection Counts During MS Awareness Week 3Health News:Every Connection Counts During MS Awareness Week 4Health News:Celebrating Four Seasons Resort Maui’s 25th Anniversary 2Health News:PracticeLink to Host a Career Advancement Workshop and Job Fair in Houston 2Health News:Éminence Organic Skin Care Launches Innovative Collection for Combination Skin 2Health News:Éminence Organic Skin Care Launches Innovative Collection for Combination Skin 3Health News:Security Life Insurance Company Launches Individual Vision Insurance Product 2
... ENT and ... “Holes in My Shoes.” The film made its broadcast premier last Holiday Season on ... at 10pm. , ... (Vocus) June 25, 2010 -- ENT and Allergy Associates, LLP (ENTA) is proud to ...
... ... in Certain Populations , ... Valencia, CA (PRWEB) June 25, 2010 -- The United States (U.S.) Centers for ... Mycobacterium tuberculosis infections, the causative agent of tuberculosis (TB). In these landmark guidelines, CDC ...
... Ross ... to Membership organizations that will help increase member retention, reduce cost and grow revenues. ... Atlanta, GA (PRWEB) ... MRM software and services to the American Automobile Association, announced today a strategic partnership ...
... Days ... the reports from northeastern Brazil where up to 100,000 people are feared to have lost ... Lakewood Ranch, ... towns “wiped off” the map. These are the reports from northeastern Brazil where up to ...
... York, June 25, 2010 Cardiac allograft vasculopathy (CAV), ... transplantation, occurs when blood vessels in a transplanted heart ... muscle or sudden death. Ascertaining benefit from appropriate treatment ... of the lack of a standard nomenclature. In an ...
... ... method that allows for significant risk reduction for index investing. Investors can ... limited or capped while reinvesting index gains accrued to lock in both ... of the principal value is invested and backed by FDIC insured bank ...
Cached Medicine News:Health News:ENT and Allergy Associates Sponsors Award Winning PBS Documentary 2Health News:TB Claims One Life Every 17 Seconds; Almost Two Million People Each Year 2Health News:TB Claims One Life Every 17 Seconds; Almost Two Million People Each Year 3Health News:Ross Group Inc Expands Offerings to Membership Clients 2Health News:Ross Group Inc Expands Offerings to Membership Clients 3Health News:ShelterBox Response Team Leaving for Flood Struck Brazil 2Health News:ShelterBox Response Team Leaving for Flood Struck Brazil 3Health News:New ISHLT cardiac allograft vasculopathy standardized nomenclature 2Health News:Principal Protected Index Investing Provides Innovative Method to Significantly Reduce Stock Market Loss and Risk 2Health News:Principal Protected Index Investing Provides Innovative Method to Significantly Reduce Stock Market Loss and Risk 3
(Date:3/2/2015)... March 2, 2015 Isis Pharmaceuticals, Inc. (NASDAQ: ... $15 million milestone payment from GSK related to advancing the ... familial amyloid polyneuropathy (FAP).  "We are very ... , and plan to report data from the Phase 2/3 ... fifteen months of dosing and are now receiving ISIS-TTR Rx ...
(Date:3/2/2015)... BETHESDA, Md. , March 2, 2015 /PRNewswire/ ... treating and preventing autoimmune diseases, announced today that it ... 714) from Amgen (NASDAQ: AMGN ). Under ... the rights to develop, manufacture and commercialize AMG 714 ... . Concurrently, Amgen has been granted an exclusive option ...
(Date:3/2/2015)... Texas , March 2, 2015   Lexicon ... biopharmaceutical company focused on developing breakthrough treatments for human ... 2014 financial results on Wednesday, March 4, 2015 before ... conference call and webcast to discuss clinical development progress ... end of 2014 at 10:00 a.m. Eastern Time on ...
Breaking Medicine Technology:Isis Pharmaceuticals Earns $15 Million From GSK for Advancing ISIS-TTR Rx 2Isis Pharmaceuticals Earns $15 Million From GSK for Advancing ISIS-TTR Rx 3Celimmune Announces Anti-IL-15 Antibody Licensing and Option Agreements with Amgen 2Celimmune Announces Anti-IL-15 Antibody Licensing and Option Agreements with Amgen 3Lexicon To Report Fourth Quarter And Year End 2014 Financial Results On March 4, 2015 2
... Part D beneficiaries who enter the "donut hole," where ... prescription costs, are twice as likely to discontinue  their ... or generic medications, a new study published today in ... The study conducted by researchers from Harvard ...
... Aug. 16, 2011 BD (Becton, Dickinson and Company) ... technology company, today announced the completion of its acquisition ... the PhaSeal® System, the leading closed-system drug transfer device ... packaged in vials.  The acquisition expands the scope of ...
Cached Medicine Technology:CVS Caremark, Harvard and Brigham and Women's Researchers Say Medicare 'Donut Hole' Can Lead to a Decrease in Medication Adherence 2CVS Caremark, Harvard and Brigham and Women's Researchers Say Medicare 'Donut Hole' Can Lead to a Decrease in Medication Adherence 3BD Completes Acquisition of Carmel Pharma 2BD Completes Acquisition of Carmel Pharma 3
Bougie Urethrotomes for slitting the female urethra and for meatus stenosis in males...
... Elite System™ and USA ... utilized for incision of ... neck contractures under direct ... converts the visual urethrotome ...
... Elite System™ and USA ... utilized for incision of ... neck contractures under direct ... converts the visual urethrotome ...
ACMI urethrotomes are available in two distinct styles to meet your specific professional needs. The Classic Series™ Otis Urethrotome consists of a blade, straight tip, and ball tip, with an av...
Medicine Products: