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:10/29/2014)... been blamed for increasing the risk of a ... history of schizophrenia, are widely accepted. Others, such ... parasite transmitted by soil, undercooked meat and cat ... new study by Gary Smith, professor of population ... School of Veterinary Medicine, used epidemiological modeling methods ...
(Date:10/29/2014)... York City on September 19, 2014, leading geneticist and ... of Genome Sciences and Medicine at the University of ... of Tel Aviv University, was awarded the 2014 Lasker-Koshland ... to her honorary degree from TAU, Prof. King was ... Medicine, and for the past 18 years she has ...
(Date:10/29/2014)... An innovative workflow reveals new research potential of the ... recently published article in the Biodiversity Data ... BOLD in tabular format and imported these into a ... Writting Tool (PWT). Data were used to study ... wasps from the Microgastrinae subfamily. , BOLD is originally ...
Breaking Biology News(10 mins):Penn vet professor investigates parasite-schizophrenia connection 2Penn vet professor investigates parasite-schizophrenia connection 3Geneticist and humanitarian: Prof. Mary-Claire King receives Lasker Award 2Go straight and publish: From Barcode of Life Data Systems to scholarly publishing systems 2
... latest-generation DNA sequencing technology to become the first explorers ... "This project is one of the first attempts to ... than a single organism," says Nicole Gerardo, assistant professor ... we can understand how these ants have evolved to ...
... the Centers for Disease Control and Prevention (CDC) found ... by age of menarche and total number of lifetime ... over the course of a woman,s lifetime may influence ... this study are published in Cancer Epidemiology, Biomarkers ...
... We see the face of the Virgin Mary staring up ... portion of our meal for $37,000 on eBay. We believe in ... science offers a wealth of rational explanations for natural phenomena, we ... And we,ll even go to war to protect our delusions against ...
Cached Biology News:Landmark project to map genomics of complex ant systems 22 reproductive factors are important predictors of death from ovarian cancer 22 reproductive factors are important predictors of death from ovarian cancer 3Our 'caveman logic' embraces ESP over evolution 2
(Date:10/30/2014)... October 30, 2014 Investor-Edge has ... (NYSE MKT: ONVO), Medivation Inc. (NASDAQ: MDVN ... Biologics Inc. (NYSE MKT: SYN), and Ironwood Pharmaceuticals Inc. ... be accessed at: http://investor-edge.com/register . On ... 4,549.23, down 0.33%, the Dow Jones Industrial Average declined ...
(Date:10/30/2014)... Global polyvinyl chloride (PVC) demand registered a significant ... especially in North America and Europe. However, the global ... a growing trend. , The largest chunk of the ... segment. In 2013, the key PVC application spheres included ... film. Moreover, the PVC was consumed in the production ...
(Date:10/30/2014)... October 30, 2014 On October ... Medicine Showcase in Chicago, leading applied stem cell ... Dr. Wade McKenna presented talks on New Techniques ... Surgical Applications For Stem Cells. , Dr. Riordan ... and the properties of AlphaGEMS that include: wound ...
(Date:10/30/2014)... 2014 Rancho BioSciences , the ... manually curated public data source TCGA for ... the data is now available for other oncology groups. ... and internal data sources for their Pharma, Government and ... the data that becomes more easily accessible. Rancho ...
Breaking Biology Technology:Biotech Equities Movers and Shakers - Organovo Holdings, Medivation, Pharmacyclics, Synthetic Biologics, and Ironwood Pharma 2Biotech Equities Movers and Shakers - Organovo Holdings, Medivation, Pharmacyclics, Synthetic Biologics, and Ironwood Pharma 3Biotech Equities Movers and Shakers - Organovo Holdings, Medivation, Pharmacyclics, Synthetic Biologics, and Ironwood Pharma 4Biotech Equities Movers and Shakers - Organovo Holdings, Medivation, Pharmacyclics, Synthetic Biologics, and Ironwood Pharma 5Global Polyvinyl Chloride Demand Is on Upward Trend Now, Says Merchant Research & Consulting in Its Topical Study 2Global Polyvinyl Chloride Demand Is on Upward Trend Now, Says Merchant Research & Consulting in Its Topical Study 3Riordan-McKenna Institute Founders, Neil Riordan, PhD and Orthopedic Surgeon, Dr. Wade McKenna Present at the Mid American Regenerative and Cellular Medicine Showcase 2Riordan-McKenna Institute Founders, Neil Riordan, PhD and Orthopedic Surgeon, Dr. Wade McKenna Present at the Mid American Regenerative and Cellular Medicine Showcase 3Riordan-McKenna Institute Founders, Neil Riordan, PhD and Orthopedic Surgeon, Dr. Wade McKenna Present at the Mid American Regenerative and Cellular Medicine Showcase 4Rancho BioSciences Manually Curated TCGA Data Sets Available 2
... VEGAS, Oct. 21 Altogen Biosystems announced the release ... reagent ( http://www.altogen.com/mirna.php ) in the company,s popular in ... Kit. This reagent is also compatible for in vivo ... and small proteins. The company also offers custom encapsulation ...
... Mass., Oct. 21 Sermo ( http://www.sermo.com ), the ... Sermo Report titled, " Physician Participation in the ESA ... participation rates in the FDA-required Erythropoiesis-Stimulating Agents (ESAs) risk ... to the results, 83% of Hematologists/Oncologists view the ESA ...
... Oct. 21 Cord Blood America, Inc . ( ... umbilical cord blood stem cell preservation company focused ... nationwide and internationally, is pleased to announce that Chairman, CEO ... Operations, will appear for one hour live on "Go Rogue ...
Cached Biology Technology:PEG-Liposome siRNA In Vivo Transfection Kit From Altogen Biosystems 2Sermo Report Indicates Possible Decline in Prescribing of Erythropoiesis-Stimulating Agents 2Cord Blood America Management Team to Appear on National VoiceAmerica Radio Network 2
This issue concentrated on the purification of proteins for specific purposes (i.e. large-scale purification, purification for therapeutic use, etc.)...
... Dunbar (1994) • This book describes ... methods for preparing samples for protein ... radiometric and bioluminescence-enhanced detection systems are ... the detection and characterization of glycoprotein ...
All serum is collected from U.S.D.A. fryers and broilers. Pricing: $15/unit for 1 - 10 units; $12/unit for 11 - 50 units...
Human HAPLN1 MAb (Clone 316119) Protein Family: Hyaluronan (HA) & HA Binding Proteins, Proteoglycan Regulators...
Biology Products: