Navigation Links
Fast-track gene-ID method speeds rare disease search
Date:9/16/2010

sis-related ciliopathies, or NPHP-RC. Taken together, these ciliopathy disorders are the most frequent genetically caused kidney disease in the first three decades of life.

The study results mean that Hildebrandt's team and other researchers now have an efficient way to identify yet-undiscovered genes involved in NPHP-RC disorders.

Hildebrandt's goal is to identify the genes responsible for these ciliopathies and find therapies to prevent or reverse their effects.

Research details

Hildebrandt used a combination of strategies of genetic analysis to expedite the search for the faulty gene in 10 NPHP-RC families. To screen candidate genes, the team collaborated with two companies, Roche NimbleGen, Inc., and Agilent, to apply the exome capture technique.

In the cell nucleus, exons, known collectively as the exome, are chains of nucleotides, or basic compounds that make up DNA, which leave the nucleus and produce proteins vital to body processes. Messenger RNA carries exons outside the nucleus, whereas other genetic material called introns remains behind. Capturing and analyzing only the exons speeded the search.

Context

People with NPHP-RC have abnormal development or degeneration of the kidneys, retina and cerebellum. Dialysis and kidney transplant are the only treatment options available.

The search for the genetic basis of these disorders, and other rare diseases as well, has turned out to be much more complicated than researchers hoped decades ago. Scientists have found that different single genes are responsible for disease in different subgroups of affected families. Discovering a culprit gene may yield insights for screening and future treatment, but only for a limited portion of all those affected.

Collaborating with scientists worldwide, Hildebrandt's lab has discovered more than 10 gene mutations that contribute to NPHP-RC diseases. But in an estimated 70 percent of cases, the gene involved i
'/>"/>

Contact: Anne Rueter
arueter@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. New technique can fast-track better ionic liquids for biomass pre-treatments
2. OU study on genetics in fruit flies leads to new method for understanding brain function
3. New method successfully predicted how oil from Deepwater Horizon spill would spread
4. University at Buffalo symposium on in silico methods, high throughput screening
5. Cold Spring Harbor Protocols features chromosomal rearrangement, gene copy number methods
6. Half-a-loaf method can improve magnetic memories
7. Zinc finger nuclease, immunoprecipitation methods featured in Cold Spring Harbor Protocols
8. New methods, new math speed detection of drug-resistant malaria
9. Body of evidence: New fast, reliable method to detect gravesoil
10. California team to receive up to $122 million to develop method to produce fuels from sunlight
11. Mother Nature to provide an environmentally friendly method for reducing mosquitoes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/27/2015)... 2015 Profile Solutions, Inc. (OTC: PSIQ), a ... is pleased to announce that Dr Gerry Bedore ... member of its scientific advisory board. ... thought leader in technology-enhanced learning models. He was a ... published studies and books focused on online student success ...
(Date:4/14/2015)... , April 14, 2015  HYPR Corp. ... Online (FIDO ® ) Alliance tm , an ... FIDO members commit to share technology and collaborate ... that are interoperable, more secure and private, and ... biometric identity verification that protects sensitive user information ...
(Date:4/9/2015)... SAN JOSE, Calif. , April 9, 2015 /PRNewswire/ ... of human interface solutions, announced today that it will ... 2015 on Thursday, April 23, 2015, after the close ... call for analysts and investors at 2:00 p.m. PT ... information.    To participate on the live ...
Breaking Biology News(10 mins):Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 2Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 3Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 4HYPR Corp. Joins the FIDO Alliance 2HYPR Corp. Joins the FIDO Alliance 3Synaptics to Report Third Quarter Results on April 23 2
... at the atomic and molecular levels nanoscale ... this level where everything happens. Alexandra Navrotsky, ... Director of its Nanomaterials in the Environment, Agriculture, and ... nanoparticles throughout her career. She presented her findings today ...
... University researcher has identified the important role that a ... could lead to a greater understanding of stem cells. ... College of Medicine, has outlined his findings in the ... Developmental Cell . The article, "CDK5RAP2 Regulates Centriole Engagement ...
... macromolecules in cells is vital to survival. Disruption ... The research group of Professor Thomas Jentsch (Leibniz ... for Molecular Medicine, MDC, Berlin-Buch) has now succeeded ... the transport and degradation of macromolecules in endosomes ...
Cached Biology News:Nanoparticle scientist speaks on new discoveries at Goldschmidt Conference 2Florida State researcher uncovers protein's role in cell division 2Researchers identify a fundamental process in lysosomal function and protein degradation 2Researchers identify a fundamental process in lysosomal function and protein degradation 3
(Date:5/21/2015)... May 21, 2015  The EveryLife Foundation for ... (R-UT) and Amy Klobuchar (D-MN) today ... Cures & Treatments, or OPEN ACT. ... advocacy organizations, this bipartisan legislation promises to rapidly ... to rare disease patients by incentivizing drug makers ...
(Date:5/21/2015)... Patent Offering, The patent’s technology pertains to ... imaging within a body lumen (open space). Known ... low cost, single-use disposable illumination and camera module (housing). ... 2013 and the patent approval was received on January ... customize the lighting and magnification of the endoscope for ...
(Date:5/21/2015)... , May 20, 2015 Research and Markets ... addition of the "2015 Global Survey on ... offering. The primary goal of this ... cytometry instruments and reagents. Key information the survey ... selection of flow cytometers, predominantly used applications for ...
(Date:5/21/2015)... Tunnell Consulting, Inc. today ... senior statistician and Principal, a position to which she ... management and analysis of complex and large data sets ... “We’re delighted to have Julia join the Tunnell team ... Dr. Philippe Cini, Group Vice President and leader of ...
Breaking Biology Technology:Advocates Cheer Senate Leaders for Introducing Bipartisan Bill to Increase Number of Rare Disease Treatments 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 3Global Survey on Flow Cytometry Adoption Trends 2015 2Julia O’Neill Joins Tunnell Consulting’s Operational and Process Improvement Practice 2
... II on High Density Oligonucleotide , Microarrays , ... engineered to maximize yields of full-length cDNA , ... 100 ng of input RNA in a single round for GeneChip , ... cRNA synthesis powered by , ...
... Total RNA Isolation from Formalin Fixed Paraffin Embedded (FFPE) Tissues ... Phenol-free isolation of total RNA from , FFPE tissues ... <A , href="http://www.ambiondx.com/products/optimum/index.html">Optimum , ... offers a simple and rapid protocol , ...
... Trace amounts of ribonuclease (RNase) , ... ubiquitous in the laboratory environment--on your skin, in the , ... bare hands or on anything left , ... or eliminate RNase contamination. However, determining which , ...
Cached Biology Technology:Improving RNA Amplification 2Improving RNA Amplification 3Improving RNA Amplification 4Improving RNA Amplification 5Improving RNA Amplification 6Improving RNA Amplification 7Improving RNA Amplification 8Improving RNA Amplification 9Improving RNA Amplification 10Improving RNA Amplification 11Improving RNA Amplification 12Improving RNA Amplification 13Improving RNA Amplification 14Optimum FFPE RNA Isolation Kit 2Optimum FFPE RNA Isolation Kit 3Optimum FFPE RNA Isolation Kit 4Combat RNase Contamination in the Lab 2Combat RNase Contamination in the Lab 3Combat RNase Contamination in the Lab 4Combat RNase Contamination in the Lab 5
... FX P is the latest entry in ... greater positional accuracy and increased robustness, it can ... It can be configured with either one or ... the Biomek FX P sets the standard ...
... you reduce the chance of error. Thats ... Developed using Beckman Coulters extensive experience in ... technology, the CEQ 8000 is a fully ... fills the capillary array with a patented ...
... The Chemicon Detergent-OUT Kit is a ... from protein solutions. Removes detergents without ... load the protein solution on the Detergent-OUT ... solution. The Med column is suitable ...
... tissue microarrays are derived from frozen embedded ... quality control procedures to ensure the highest ... assembled in one block, sectioned at a ... coated slides. Sections are large (3-5 mm ...
Biology Products: