Navigation Links
Researchers 'grow Rett syndrome' in a Petri dish

(Cincinnati, OH) A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field.

The article, titled 'A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells,' describes how the team used a newly-devised procedure to reprogram the skins cells - literally winding back their developmental clock to an earlier state and transforming them into stem cells. The researchers then employed a second novel technique, taking the newly-formed stem cells and driving them along a developmental path to form nerve cells. When Dr. Muotri and his team examined these new nerve cells closely, they observed characteristic hallmarks of nerve cells with Rett syndrome, including fewer synapses, smaller cell bodies and changes in the cells' signaling capabilities. The group then took their work a step further; testing several drugs previously shown to be effective in mouse models of Rett syndrome, they provided evidence of functional rescue, using human cells. In 1999, the laboratory of Dr. Huda Zoghbi at Baylor College of Medicine, made a seminal discovery, identifying a causative link between mutations in the gene methyl-CpG-binding protein 2 (MeCP2) and Rett syndrome. This led to further work showing the MeCP2 protein is critical for the proper functioning of nerve cells. In 2007 another study in the laboratory of Dr. Adrian Bird at the University of Edinburgh, Scotland showed that restoration of MeCP2 function in a mouse model of the disease reverses the neurological symptoms in adult mice. This finding provided a critical proof of concept that symptoms of the disorder may be reversible in humans. However, to date, no effective pharmacological treatments have been developed.

The main limitation for human studies and thus, drug development, has been the inaccessibility of live neurons from human patients. To get around this issue, the use of induced pluripotent stem cells (iPSCs) to establish a human cell-based model of Rett syndrome is key to the development of high throughput drug screens and therefore has been an area of the highest priority for IRSF who provided a post-doctoral fellowship Award to Dr. Cassiano Carromeu, a member of the team and a co-author of the current study. The study's principal author, Dr. Alysson Muotri, said, "Dr. Bird's data shows that you can reverse symptoms in a mouse model, now we've shown that this could be done using human cells." "I think the future is to push this in a high throughput screening platform to develop new drugs," he continued.

IRSF recently provided funding to support a new program for Rett syndrome-specific drug development, titled the "Selected Molecular Agents for Rett Therapeutics" (SMART) Initiative. The SMART Initiative will assemble a collection of brain-specific drugs that target select biological mechanisms important in RTT and make the compound collection available to researchers worldwide. IRSF's Chief Scientific Officer, Dr. Antony Horton said "IRSF has been proactive in moving iPSC technology forward for the purpose of drug screening, which is aligned well with the new SMART Initiative." "With the publication of this study, a major hurdle has been overcome in our quest to develop and test new medicines for the benefit of people living with Rett syndrome." added Dr. Horton.


Contact: Stephen Bajardi
International Rett Syndrome Foundation

Related biology news :

1. U of A researchers can predict heart transplant patients health earlier
2. UCLA researchers discover a potential target for therapy for patients with a deadly prostate cancer
3. Jefferson researchers receive W.W. Smith Charitable Trust
4. Studying the metabolome of smokers, Lombardi researchers find early signs of damage
5. Johns Hopkins researchers reshape basic understanding of cell division
6. Researchers unlock the secret of bacterias immune system
7. Missouri Botanical Garden researchers discover 8 new species in Boliva national parks
8. University of Illinois researchers discover potential new virus in switchgrass
9. NYU Courant researchers develop algebraic model to monitor cellular change
10. Researchers developing real-time electronic monitoring for coastal waters
11. Researchers could use plants light switch to control cells
Post Your Comments:
(Date:11/20/2015)... 2015 NXTD ) ("NXT-ID" or ... growing mobile commerce market and creator of the Wocket® ... was recently interviewed on The RedChip Money Report ... weekend on Bloomberg Europe , Bloomberg Asia, Bloomberg ... NXTD ) ("NXT-ID" or the "Company"), a biometric ...
(Date:11/18/2015)... , Nov. 18, 2015  As new scientific discoveries ... doctors and other healthcare providers face challenges in better ... and patients. In addition, as more children continue to ... patient,s adulthood and old age. John M. ... Children,s Hospital of Philadelphia (CHOP) . --> ...
(Date:11/17/2015)... Paris , qui ... Paris , qui s,est tenu du ... leader de l,innovation biométrique, a inventé le premier scanner ... sur la même surface de balayage. Jusqu,ici, deux scanners ... les empreintes digitales. Désormais, un seul scanner est en ...
Breaking Biology News(10 mins):
(Date:11/30/2015)... DIEGO , Nov. 30, 2015  HUYA Bioscience ... China,s pharmaceutical innovations, today announced it ... Drug Development Fund (KDDF) to foster collaboration between KDDF ... development and commercialization of healthcare products for the global ... as an important source of new innovative preclinical and ...
(Date:11/30/2015)... NORTH CHICAGO, Ill. , Nov. 30, 2015 /PRNewswire/ ... an all-inclusive program that focuses on a daily routine ... how patients take their medication can affect the way ... establish and follow to their a daily routine are ... is to help patients better manage their hypothyroidism ...
(Date:11/30/2015)... , Nov. 30, 2015  Northwest Biotherapeutics (NASDAQ: ... DCVax® personalized immune therapies for solid tumor cancers, announced ... additional independent director, and the Company welcomes Neil ... in a recent anonymous internet report on NW Bio.  ... Linda Powers stated, "We agree with ...
(Date:11/30/2015)... and PETACH TIKVAH, Israel , Nov. ... BCLI ), a leading developer of adult stem cell ... Brainstorm Cell Therapeutics Ltd., has been awarded an additional grant ... of the Chief Scientist (OCS). This grant, the second this ... 2015 activities to approximately $1.8 million (approximately NIS7 million).  ...
Breaking Biology Technology: