Navigation Links
Rare genetic disease successfully reversed using stem cell transplantation
Date:9/17/2009

LA JOLLA, CA September 17, 2009 A recent study by Scripps Research Institute scientists offers good news for families of children afflicted with the rare genetic disorder, cystinosis. In research that holds out hope for one day developing a potential therapy to treat the fatal disorder, the study shows that the genetic defect in mice can be corrected with stem cell transplantation.

"After meeting the children who suffer from this disease, like an 18-year-old who has already had three kidney transplants, and the families who are desperately searching for help, our team is committed to moving toward a cure for cystinosis, a lysosomal storage disorder," says principal investigator Stephanie Cherqui, assistant professor in the Department of Molecular and Experimental Medicine. "This study is an important step toward that goal."

In the study, which is published in the September 17, 2009 print edition of the journal Blood, the Scripps Research team used bone marrow stem cell transplantation to address symptoms of cystinosis in a mouse model. The procedure virtually halted the cystine accumulation responsible for the disease and the cascade of cell death that follows.

Cystine is a byproduct of the break down of cellular components the body no longer needs in the cell's "housekeeping" organelles, called lysosomes. Normally, cystine is shunted out of cells, but in cystinosis a gene defect of the lysosomal cystine transporter causes it to build up, forming crystals that are especially damaging to the kidneys and eyes.

A Rare But Devastating Disease

While cystinosis is rareaffecting an estimated 500 people in the United States and 2,000 worldwideit is devastating. Three types of cystinosis have been described based on the age at diagnosis and the amount of cystine in cells: infantile onset, adolescent onset, and adult onset. Children as young as six months can begin to suffer renal dysfunction, which grows progres
'/>"/>

Contact: Keith McKeown
kmckeown@scripps.edu
858-784-8134
Scripps Research Institute
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Does the desire to consume alcohol and tobacco come from our genetic makeup?
2. Diverse genetic abnormalities lead to NF-κB activation in multiple myeloma
3. Many parents at-risk for cancer disclose genetic test results to children
4. Genetics determine optimal drug dose of common anticoagulant
5. Claims of sex-related differences in genetic association studies often not properly validated
6. American College of Medical Genetics responds to new FDA labeling decision for warfarin
7. UNC study questions FDA genetic-screening guidelines for cancer drug
8. Genome study shines light on genetic link to height
9. Selexis Announces Advanced Approach to Maximize Power of Genetic Elements for Rapid Development of High Performance Cell Lines
10. Genes, Environment and Health Initiative invests in genetic studies, environmental monitoring
11. Rutgers Genetics receives $7.8 million for autism research
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/6/2014)... Baltimore, MD, November 6, 2014 - Insilico Medicine, ... in aging and age related diseases announced a ... medicine of cancer, Champions Oncology, Inc (OTC: CSBR). ... genomics for personalized medicine, but Champions Oncology,s TumorGraft ... can validate the chemotherapy regimen experimentally generating vast ...
(Date:11/5/2014)... career to understanding the Earth,s climate and communicating ... deputy director and regional climatologist for the Western ... Redmond has more than three decades of experience ... data to the general public. , At its ... December 15-19, 2014 the American Geophysical Union (AGU) ...
(Date:11/4/2014)... University of Utah engineers developed the first room-temperature fuel ... electricity without needing to ignite the fuel. These new ... off-grid power and sensors. , A study of the ... Society journal ACS Catalysis . , Fuel cells ... a fuel and an oxygen-rich source such as air. ...
Breaking Biology News(10 mins):Insilico Medicine, Inc announces research collaboration with Champions Oncology, Inc 2Nevada climatologist to be honored at AGU Fall Meeting for lifetime of public outreach 2Jet-fueled electricity at room temperature 2
... Riverside-led team of biomedical scientists has found that a readily ... skin infections, can be used to treat Fragile X ... and the most common cause of autism. The study,s ... a new clinical trial in Toronto, Canada, that will test ...
... species, filling such an important niche in ocean communities ... finding, however, that sea otters can have even farther-reaching ... behavior of another top predator: the bald eagle. ... heights of 250 feet and function much like trees ...
... of the Union Address on January 23, 2007, President Bush ... "We must increase the supply of alternative fuels, by setting ... renewable and alternative fuels in 2017." This mandate ... 2008 Farm Bill and a $45 subsidy per ton of ...
Cached Biology News:UCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome 2UCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome 3Decline in Alaskan sea otters affects bald eagles' diet 2Decline in Alaskan sea otters affects bald eagles' diet 3Mandate for biofuels production requires science-based policy and global perspective 2
(Date:11/15/2014)... The "Operating Room Management Market ... Application (Perioperative, Preoperative, operating room Scheduling), by Component ... Global Forecast to 2019.” defines and segments the ... forecast of value by product, such as data ... the value and volumes of operating room management ...
(Date:11/15/2014)... 2014 The report “Laboratory ... End-User - Global Forecasts to 2019”, defines ... an analysis and forecast of value by ... Osmosis. Along with this, the value of ... regions are also discussed in the report. ...
(Date:11/15/2014)... 2014 Anthera Pharmaceuticals, Inc. (NASDAQ: ... for the third quarter ended September 30, 2014. ... September 30, 2014 was $7.0 million, compared to $5.8 ... in net loss is mainly driven by higher research ... progress in both our Phase 3 systemic lupus erythematosus ...
(Date:11/12/2014)... , 12. November 2014 /PRNewswire/ ... RaySafe, ist weltweit führend in der ... biomedizinische Tests und Simulationen und diagnostische ... Nach dem erfolgreichen ... nun branchenweit in Hinsicht auf Produktqualität, ...
Breaking Biology Technology:Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 2Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 3Operating Room Management Market Worth $4,551.1 Million by 2019 - New Report by MarketsandMarkets 4Laboratory Filtration Market worth $2,532.6 Million by 2019 - New Report by MarketsandMarkets 2Laboratory Filtration Market worth $2,532.6 Million by 2019 - New Report by MarketsandMarkets 3Laboratory Filtration Market worth $2,532.6 Million by 2019 - New Report by MarketsandMarkets 4Anthera Pharmaceuticals Reports 2014 Third Quarter Financial Results and Operational Update 2Anthera Pharmaceuticals Reports 2014 Third Quarter Financial Results and Operational Update 3Anthera Pharmaceuticals Reports 2014 Third Quarter Financial Results and Operational Update 4Anthera Pharmaceuticals Reports 2014 Third Quarter Financial Results and Operational Update 5Anthera Pharmaceuticals Reports 2014 Third Quarter Financial Results and Operational Update 6Fluke Biomedical/Unfors RaySafe rüstet sich für Wachstum in EMEA-Region 2Fluke Biomedical/Unfors RaySafe rüstet sich für Wachstum in EMEA-Region 3Fluke Biomedical/Unfors RaySafe rüstet sich für Wachstum in EMEA-Region 4Fluke Biomedical/Unfors RaySafe rüstet sich für Wachstum in EMEA-Region 5
... Scholarship Award to Middletown High School SophomoreBRISTOL, R.I., March ... commitment of encouraging young women to pursue careers in ... announced a full-scholarship award for one participant during the ... Mersina Simanski, sophomore at Middletown High School, was presented ...
... with Major Biopharmaceutical CompanyBELGIUM, Wis., March 6 ... to announce that its subsidiary, Modular Process Constructors ... to better reflect its vision, and announces that ... major global biopharmaceutical and consumer health company. The ...
... is available in French . , Montreal ... which includes Dr. Irma Lopez from the Research Institute of ... role in the international collaboration that led to the discovery ... and retinitis pigmentosa (RP), two devastating forms of childhood blindness. ...
Cached Biology Technology:GRRL Tech Participant Offered Full Tuition Four-Year Scholarship to Roger Williams University 2GRRL Tech Participant Offered Full Tuition Four-Year Scholarship to Roger Williams University 3Mach One Subsidiary Modular Process Constructors LLC Changes Name to MPS BioPharm to Better Reflect its Vision 2Discovery of a new retinal gene involved in childhood blindness 2
Glucagon-like peptide-1 (GLP-1 (1-36) amide)...
Complement factor B (human)...
... JNK (c-Jun NH2-terminal kinase) signal transduction ... MAP kinase pathways in mammals. JNK ... environmental stress, is associated with the ... is implicated in the immune response, ...
... mid-, near- and far-infrared range FT-IR spectrometers ... in their class. Yet all this comes ... Highest-energy throughput: Having a larger and ... to other conventional FT-IRs provides 300%,larger solid ...
Biology Products: