Featured Research

from universities, journals, and other organizations

Children's Hospital Boston Launches Major Genetic Study Of Autism

Date:
December 20, 2004
Source:
Children's Hospital Boston
Summary:
Children's Hospital Boston has begun enrolling patients as part of an ambitious new multidisciplinary study of autism that will attempt to pin down its genetic and biochemical causes. Results could be available in a year or two, and could yield a greater biological understanding of autistic spectrum disorders, better diagnostic and prognostic techniques, and potential medical treatments.

Children's Hospital Boston has begun enrolling patients as part of an ambitious new multidisciplinary study of autism that will attempt to pin down its genetic and biochemical causes. Results could be available in a year or two, and could yield a greater biological understanding of autistic spectrum disorders, better diagnostic and prognostic techniques, and potential medical treatments.

More than 90 percent of autism cases are believed to have a genetic component, and multiple genes are believed to be involved. But although much research has been done and many candidate genes identified, none have been clearly implicated. The Children's study, partially funded by the Nancy Lurie Marks Family Foundation, will bring together researchers in genetics, genomics, bioinformatics, and developmental medicine to try to solve the puzzle.

Autism is a complex behavioral syndrome defined by developmental deficits, particularly communication deficits, impaired social interaction and repetitive behaviors. Affecting about one in 1,000 people, it is now thought of as a spectrum of disorders including autism, Asperger's syndrome and pervasive developmental disorder. There is no specific medical treatment, although behavioral interventions help children on the autistic spectrum live fuller, more functional lives.

The Children's researchers plan to enroll 100 to 150 children age 2 years and older per year, along with their parents and affected siblings. They also will enroll 150 unaffected children to serve as controls. The study has several components:

* The Children's Developmental Medicine Center will first conduct detailed behavioral evaluations of the children and their families, led by Drs. Janice Ware and Leonard Rappaport. Subjects will be assessed for autistic spectrum disorders and carefully classified according to rigorous clinical research criteria. The goal is to develop behavioral profiles that can be correlated with genetic data. Children and their parents will then give saliva samples for DNA analysis and blood samples for RNA gene expression studies.

* Led by Drs. Ingrid Holm and Louis Kunkel, researchers in the Children's Program in Genomics will study the DNA samples, performing association studies and linkage studies to look for genetic differences (polymorphisms) that are shared within families and may accompany clinical manifestations of autistic spectrum disorders.

* The Program in Genomics also will perform microarray ("gene-chip") studies of RNA from white blood cells to examine differences in gene activity, or expression, among autistic children, their parents, and matched control subjects. By looking at 60,000 genes simultaneously and determining which are turned "on" and "off," the researchers will seek patterns or genetic "signatures" that mark the different autistic spectrum disorders and give clues to their biological causes. The investigators hope to show that gene expression in white blood cells is similar enough to that in brain cells to be a useful surrogate measure, avoiding the need to obtain and test brain tissue.

* The Children's Hospital Informatics Program (CHIP), led by Dr. Isaac Kohane, will perform computational analyses to help detect subtle genetic patterns, group patients according to their gene-expression profiles, and apply statistical techniques to determine the reliability of the patterns and linkages found and eliminate false-positive findings. As new data become available, CHIP will factor them in to create the strongest possible predictive models for autistic spectrum disorders.

* The Neurobiology Program of Children's Hospital, led by Dr. Michael Greenberg, will examine the connection between autism, a protein called brain-derived neurotrophic factor (BDNF), and several genes known to regulate BDNF. BDNF regulates many aspects of brain development and function, including formation of synapses. Mutation of one gene that regulates BDNF, called MeCP2, has already been linked to Rett syndrome, which is characterized by mental retardation and autistic behaviors. Further studies of MeCP2 and related genes will explore how they work and how brain-cell activity triggers them. These investigations may uncover other genes and biochemical pathways that underlie autism.

* Children and families enrolled in the Children's study also will be invited to take part in research at MIT's Department of Brain and Cognitive Sciences. Study participants will be tested for their ability to recognize and respond to faces (a critical deficit in autism), the development of specific language skills (also impaired in autism), and gross and fine motor function. Although not a formal part of the study, the data collected by MIT will be fed back into the Children's study and correlated with the genetic data.


Story Source:

The above story is based on materials provided by Children's Hospital Boston. Note: Materials may be edited for content and length.


Cite This Page:

Children's Hospital Boston. "Children's Hospital Boston Launches Major Genetic Study Of Autism." ScienceDaily. ScienceDaily, 20 December 2004. <www.sciencedaily.com/releases/2004/12/041220030322.htm>.
Children's Hospital Boston. (2004, December 20). Children's Hospital Boston Launches Major Genetic Study Of Autism. ScienceDaily. Retrieved July 30, 2014 from www.sciencedaily.com/releases/2004/12/041220030322.htm
Children's Hospital Boston. "Children's Hospital Boston Launches Major Genetic Study Of Autism." ScienceDaily. www.sciencedaily.com/releases/2004/12/041220030322.htm (accessed July 30, 2014).

Share This




More Mind & Brain News

Wednesday, July 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

It's Not Just Facebook: OKCupid Experiments With Users Too

It's Not Just Facebook: OKCupid Experiments With Users Too

Newsy (July 29, 2014) If you've been looking for love online, there's a chance somebody has been looking at how you're looking. Video provided by Newsy
Powered by NewsLook.com
How Your Face Can Leave A Good Or Bad First Impression

How Your Face Can Leave A Good Or Bad First Impression

Newsy (July 29, 2014) Researchers have found certain facial features can make us seem more attractive or trustworthy. Video provided by Newsy
Powered by NewsLook.com
Losing Sleep Leaves You Vulnerable To 'False Memories'

Losing Sleep Leaves You Vulnerable To 'False Memories'

Newsy (July 27, 2014) A new study shows sleep deprivation can make it harder for people to remember specific details of an event. Video provided by Newsy
Powered by NewsLook.com
University Quiz Implies Atheists Are Smarter Than Christians

University Quiz Implies Atheists Are Smarter Than Christians

Newsy (July 25, 2014) An online quiz from a required course at Ohio State is making waves for suggesting atheists are inherently smarter than Christians. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins