Navigation Links
Hope for children with rare genetic defect
Date:4/19/2011

This press release is available in German.

FRANKFURT, Germany. It is a rare disease with devastating consequences: Around first grade, the children start experiencing vision impairments, which two to three years later progress to complete blindness. This is the first indication of a progressive destruction of brain cells. Later on, the patients experience hallucinations, epileptic seizures, dementia and, finally, failure of all motor abilities. In this last stage, the immobile patients must be artificially ventilated. To date, there is no therapy for Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, also called Batten disease), so patients pass away in their teens or twenties. Four years ago, the working group lead by Dr. Mika Ruonala started their research at the Center for Membrane Proteomics of the Goethe University to study the consequences of the underlying genetic defect on the whole complex network of cellular proteins., In the meantime, by studying a JNCL mouse model with a novel method of fluorescence microscopy the scientists have detected several 'biomarkers' that can now be used in search for screening for potentially active drugs in cooperation with the Harvard Medical School in Boston, USA.

"A prerequisite for a large-scale screen for active ingredients is to have an understanding of the global effects that the genetic defect has on the complex network of the cells' proteins. Consequent validation of the changes in the protein networks provides new possibilities for drug-based intervention" explains Dr. Mika Ruonala. "Analogously with the gene defect it is equally important to understand the global effect a drug has on the complete protein network. A drug that solves a problem in one area may lead to serious adverse events in other areas. It is therefore important to proof the effects of a drug with as many criteria as possible." The visua
'/>"/>

Contact: Dr. Mika Ruonala
Ruonala@em.uni-frankfurt.de
49-697-982-9463
Goethe University Frankfurt
Source:Eurekalert  

Page: 1 2 3

Related medicine news :

1. Childrens doctors team up across state lines to fight disease
2. Study: Parents likely to embrace predictive genetic testing for their children if offered
3. Teachers-based intervention provides stress resistance in war-exposed children
4. Nationwide Childrens Hospital accepted to Neonatal Research Network
5. Minimally invasive thyroid surgery effective in children
6. Children victims of most eye injuries from aerosols
7. NCI awards $1.7 million to cancer specialist at Childrens Hospital Los Angeles
8. UT Southwestern pediatricians launch landmark childrens health study
9. How do life-threatening medical conditions in children impact quality of life?
10. Prenatal exposure to certain pollutants linked to behavioral problems in young children
11. Potato consumption in childrens meals leads to higher overall diet quality
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Hope for children with rare genetic defect
(Date:5/2/2015)... “ ActOn ” was featured on NewsWatch ... at the latest and coolest applications on the market for ... and technology expert, conducted the app review and shared with ... organizations to make a difference. , In this material world, ... that aren’t about money, which is why those things should ...
(Date:5/2/2015)... May 02, 2015 It’s a pattern ... natural disaster strikes anywhere on this planet, cyber scammers ... sympathy and compassion for their own personal gain. ... Emergency Readiness Team) issued an alert titled “Nepal ... email scams citing the earthquake in Nepal. The scam ...
(Date:5/2/2015)... “ Peachtree Audio ” was featured on ... features the latest and coolest technology products available to ... for NewsWatch, conducted the review and shared with viewers ... Music is an important part of people’s lives – ... the royal treatment. Peachtree Audio does just that with ...
(Date:5/2/2015)... Chicago, IL (PRWEB) May 02, 2015 Kare ... to provide support for busy caregivers. Kare Visits offers ... hospitals, and assisted living facilities. According to the ... caregivers spend an average of 20 hours a week caring ... fraction of the cost to hire a nurse, a caregiver ...
(Date:5/2/2015)... 2015 ZoomCare, the Portland-based innovator of ... to offer its new healthcare insurance to individuals and ... Health Insurance System is the nation’s first health insurance ... performance. ZOOM+ Personal Health Insurance was ZoomCare’s first such ... are subject to review and regulation by the Oregon ...
Breaking Medicine News(10 mins):Health News:An Application to Help People Make a Difference Was Featured on NewsWatch Television 2Health News:Cyber Aftershocks from Nepal’s Earthquake Can Cripple Businesses Right Here at Home 2Health News:Cyber Aftershocks from Nepal’s Earthquake Can Cripple Businesses Right Here at Home 3Health News:Cyber Aftershocks from Nepal’s Earthquake Can Cripple Businesses Right Here at Home 4Health News:Affordable High-End Audio Equipment was Featured on NewsWatch Television 2Health News:Chicagoan Seeks to Transform Industry by Launching an Innovative Elderly Care Solution 2Health News:ZoomCare Applies to be on Oregon Exchange 2
... Penn State researchers shows that diets focusing on foods that are ... people to control hunger. ,Foods that are high ... soup, lean meat, and low-fat dairy products are low in ... ,Eating a diet that is low in calorie density allows people ...
... to enter rehab for treatment for alcoholism. ... 'Bon Jovi' has revealed the news, albeit without naming the ... facility in Los Angeles. He asks that you respect he ... the representative as saying. ,The magazine also reported ...
... fever, a devastating pig disease that could also threaten ... Friday. ,"This is a dramatic development," said ... FAO, noting that the highly contagious viral disease "has ... ,Armenia, Azerbaidjan and Russia "should be on ...
... deadly H5N1 bird flu virus in Hong Kong, agricultural officials ... the bird, found dead last week in the rural New ... ,They warned of personal contact with wild birds and live ... found dead in Hong Kong this year with H5N1, which ...
... on foods that are low in calorie density can promote healthy ... ,Foods that are high in water and low in fat ... are low in calorie density and provide few calories per ... calorie density allows people to eat satisfying portions of food, and ...
... Exhausted, stressed out and thinner than she used to be, ... life this week, and she's not even 18 yet . ... hopefuls struggling through China's university placement exams, a pressure-packed, make-or-break ... or trap her down in the faceless masses. ...
Cached Medicine News:Health News:Eating Smartly- A Key to Lose Weight 2Health News:Low Calorie Diet can Promote Healthy Weight Loss and Help Control Hunger 2Health News:Make-or-break Exams Stress China Youth 2Health News:Make-or-break Exams Stress China Youth 3
(Date:5/1/2015)... May 1, 2015   Intarcia Therapeutics, Inc. ... as Vice President, Human Resources, reporting directly to ... As a new key member of the senior leadership ... and Leadership Team to assure the Company advances its ... embeds its core values and its dynamic culture. Another ...
(Date:5/1/2015)... , May 1, 2015 Hitachi Chemical Diagnostics, ... States launch of the ExoComplete™ 96-Well Plate ... easy system for exosome collection to mRNA purification.  The ... Vesicles ("ISEV") Annual Meeting, April 23 – 26, 2015, ... are intended for research use only of molecular biology ...
(Date:5/1/2015)... , May 1, 2015 Following yesterday,s release of ... D, here are five things you need to know: ... market-based structure is unique among government programs. ... D is different than other parts of Medicare and other ... that submit bids to offer prescription drug benefits to enrollees. ...
Breaking Medicine Technology:Intarcia Appoints James P. Brady Vice President, Human Resources 2Intarcia Appoints James P. Brady Vice President, Human Resources 3Intarcia Appoints James P. Brady Vice President, Human Resources 4New Products for Exosome Isolation to mRNA Purification 25 Things to Know About the CMS Part D Data Release 25 Things to Know About the CMS Part D Data Release 3
Pediatric: Binocular Balance, Tumbling "E" Monocular Acuity, Binocular Acuity, Fixation Disparity, Stereopsis...
Multi-Acuity: Letter Acuity, Tumbling E,and Allen Tests....
... antigen (PSA) is a serine protease that ... epithelial cells of the,acini and ducts. Normal ... 0.1-2.6 ng/ml. Reports have suggested that elevated,level ... the must useful tumor,markers in diagnosis of ...
Designed specifically for use with children ages,3 and up The patient is asked to distinguish between a "Raised E" and a non stereo target....
Medicine Products: