Navigation Links
New technique promises to 'lift the hood’ on autism
Date:5/18/2011

y, having inherited a deleterious mutation from a parent in addition to having a de novo mutation. The child with a FOXP1 mutation also inherited a defective copy of CNTNAP2, another gene that may be involved in language development. "It's like getting hit by lightning twice," Eichler says. That child has severe autism and the greatest language deficit of any individual in the study.

The child with the epilepsy-related SCN1A mutation also inherited from his mother a deletion that increases the risk for epilepsy; and indeed, that child has been diagnosed with epilepsy. The findings support the 'multi-hit' theory of autism, the idea that it may take a combination of mutations in the same pathway to cause severe autism or related disorders.

Studying 20 families is just a start "a teaser," as Eichler puts it. At the same time, the study offers two important proofs of principle: It provides compelling evidence that de novo point mutations may underlie many cases of autism, and it shows that exome-sequencing is an effective way to discover which of the more than 20,000 genes in the human genome are responsible for autism spectrum disorders.

"It's like having a dartboard with 20,000 candidates the fact that we could pick off four outstanding candidate genes is a great success," Eichler says. "It's proof on the ground that this technique is fruitful."

The Simons Foundation is providing funding for Eichler's team and several other groups to do whole-exome sequencing of several hundred families in the Simons Simplex Collection over the next few months. As whole-exome and eventually whole-genome sequencing become more accurate and affordable, it won't be long before it will be possible to sequence several thousand families, which should be enough data to provide statistical arguments about which genes are responsible for autism spectrum disorders, Eichler says.

"Within a couple of years, we should have a pretty comprehensive view
'/>"/>

Contact: Anastasia Greenebaum
agreenebaum@simonsfoundation.org
212-524-6097
Simons Foundation
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Molecular technique advances soybean rust resistance research
2. Penn researchers develop technique for measuring stressed molecules in cells
3. New technique improves sensitivity of PCR pathogen detection
4. Polarized microscopy technique shows new details of how proteins are arranged
5. Improvements in embryonic preimplantation genetic screening techniques
6. New technique tracks viral infections, aids development of antiviral drugs
7. Mapping the brain: New technique poised to untangle the complexity of the brain
8. DNA stretching -- A new technique being carried out at CIC microGUNE to detect illnesses
9. New imaging technique provides rapid, high-definition chemistry
10. New high-resolution carbon mapping techniques provide more accurate results
11. Combined molecular study techniques reveal more about DNA proteins
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/21/2014)... Mark DeCoster, the James E. Wyche III Endowed ... will present as an invited speaker at the ... Research and Development Center in Singapore. , DeCoster, ... Louisiana Tech,s Institute for Micromanufacturing, will present a ... cell and tissue models." The presentation will ...
(Date:7/21/2014)... Medicine-led study suggests that parents of obese children often ... childhood weight gain or the importance of daily physical ... , The study is published online in the ... , "Parents have a hard time changing their child,s ... Rhee, MD, and an assistant adjunct professor in the ...
(Date:7/21/2014)... resistance, and cheating in science are among the ... and mycology experts in Montreal at the three ... July 27 to August 1, 2014. Some 2,000 ... at the 14th International Congress of Bacteriology and ... and Eukaryotic Microbiology, and the 16th International Congress ...
Breaking Biology News(10 mins):Louisiana Tech University professor presents at International Bioprinting Congress 2Parents rank their obese children as 'very healthy' 2Montreal hosts International Union of Microbiology Societies congresses 2
... -- 23andMe has launched a project funded by the ... validating 23andMe,s highly-scalable platform for pharmacogenomics research. The company ... and Reinvestment Act of 2009 for "Web-based Phenotyping for ... Human Genome Research Institute. "One of ...
... in the brain called the perirhinal cortex is critical for ... for Mind and Brain have found. The perirhinal cortex ... "declarative" or conscious memories, but the new results show that ... a graduate student at UC Davis. The results were ...
... Is red seaweed a viable future biofuel? Now that ... of yeast that can make short work of fermenting galactose, ... about biofuel crops, they think of corn, miscanthus, and switchgrass. ... choice is marine biomass," said Yong-Su Jin, a U of ...
Cached Biology News:23andMe receives NIH funding to evaluate web-based research on the genetics of drug response 2Where unconscious memories form 2Seaweed as biofuel? Metabolic engineering makes it a viable option 2
(Date:7/22/2014)... Dr. Williams says, “Bush has joined the ... the greatest health care system in the world is ... while trying to serve the public. Unfortunately, Bush has ... an enormous system that none of them can first ... series of Open Letters ( http://is.gd/wdU2CM ) provides a ...
(Date:7/21/2014)... Syracuse University,s College of Arts and Sciences has ... of stainless nanoparticles. , Mathew M. Maye, associate ... $360,000 grant from the National Science Foundation (NSF). ... stainless alloy nanostructures, the results of which may ... batteries. , Maye,s approach is novel, ...
(Date:7/21/2014)... Sunset, LA (PRWEB) July 21, 2014 ... poor sleep quality are closely correlated with depression. ... Institutes of Health: "About three quarters of ... present in about 40% of young depressed adults ... in females. The symptoms cause huge distress, have ...
(Date:7/18/2014)... , July 18, 2014 Regeneron Pharmaceuticals, Inc. ... quarter 2014 financial and operating results on Tuesday, August ... Company will host a conference call and simultaneous webcast ... Conference Call InformationTo access this call, dial (888) ... the webcast may be accessed from the ,Events and ...
Breaking Biology Technology:Dr. Ira Williams Asks What’s Wrong With Jonathan Bush’s Book, Where Does It Hurt? 2Syracuse University chemist to use NSF grant to study materials chemistry, nanoscience 2Open Label Data on Enhanced Sleep Released by JayMac Pharmaceuticals, LLC 2Open Label Data on Enhanced Sleep Released by JayMac Pharmaceuticals, LLC 3
... Oxygen Biotherapeutics, Inc. (OTC Bulletin Board: ... development and commercial supply agreement with Hospira ... business unit to manufacture clinical-grade Oxycyte(R). Oxycyte ... carrier. Oxycyte will be manufactured at Hospira,s ...
... on the 1918 Spanish Influenza Strain Protected Mice and ... Bird FluROCKVILLE, Md., April 14 ... NVAX ) today reported preclinical study results ... based on the 1918 Spanish influenza strain protected against ...
... - BioMS Medical Corp. (TSX: MS), a leading developer ... that the independent Data Safety Monitoring Board (DSMB) for ... dirucotide in patients with secondary progressive MS has completed ... as per the protocol. , This was the fourth ...
Cached Biology Technology:Oxygen Biotherapeutics, Inc. Signs Supply Agreement for Clinical-Grade Oxycyte for Clinical Trials and Future Needs 2NOVAVAX Announces Publication of a Preclinical Study Demonstrating that a Virus-like Particle Vaccine Provided Protection Against Highly Pathogenic H1N1 and H5N1 Influenza Strains 2NOVAVAX Announces Publication of a Preclinical Study Demonstrating that a Virus-like Particle Vaccine Provided Protection Against Highly Pathogenic H1N1 and H5N1 Influenza Strains 3NOVAVAX Announces Publication of a Preclinical Study Demonstrating that a Virus-like Particle Vaccine Provided Protection Against Highly Pathogenic H1N1 and H5N1 Influenza Strains 4NOVAVAX Announces Publication of a Preclinical Study Demonstrating that a Virus-like Particle Vaccine Provided Protection Against Highly Pathogenic H1N1 and H5N1 Influenza Strains 5BioMS Medical's phase III U.S. multiple sclerosis trial receives positive safety review from Data Safety Monitoring Board 2
Phospho-Cyclin D1 (Thr286) Antibody...
STX18 Immunogen: STX18 (NP_058626, 101 a.a. ~ 200 a.a) partial recombinant protein with GST tag. Storage: -20 C, Avoid Freeze/Thaw Cycles *Available for distribution in the US only...
Rabbit polyclonal to Phosphothreonine-Proline / Phosphoserine-Proline ( Abpromise for all tested applications)....
Goat polyclonal to Factor VIII, prediluted ( Abpromise for all tested applications). Antigen: Full length native protein (purified) (Human): Factor VIII from blood. Entrez GeneID: 2157 Sw...
Biology Products: