Navigation Links
Seattle Children's Research Institute helps identify causes of sagittal craniosynostosis
Date:11/19/2012

Seattle Children's Research Institute, together with an international team of scientists and clinicians from 22 other institutions, have identified two genetic risk factors for the most common form of non-syndromic craniosynostosis, a birth defect in which the bony plates of an infant's skull prematurely fuse. The condition is known as sagittal craniosynostosis and often results in an abnormal head shape and facial features.

The study identified two genes (BMP2 and BBS9) associated with sagittal craniosynostosis that are known to be involved in broader skeletal development.

Results of the research project, "A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9," are published online today in the journal Nature Genetics.

"Seattle Children's treats hundreds of children with different types of craniosynostosis each year, many whose families are looking for answers to what causes the condition and many of whom participated in this study. This discovery brings us one step closer to unraveling the mysteries of craniosynostosis, which will lead to improved counseling of our patients and their families," said Michael Cunningham, MD, PhD, a principal investigator at Seattle Children's Research Institute who studies the genetics and developmental biology of craniosynostosis.

Dr. Cunningham is the medical director of the Craniofacial Center at Seattle Children's Hospital, Professor of Pediatrics at the University of Washington and a founding member of the International Craniosynostosis Consortium (ICC), the organization that enrolled and evaluated all study participants.

In this study believed to be the first genome-wide association study of non-syndromic sagittal craniosynostosis investigators scanned the whole genome of a group of children and adults with the condition and compared them to a control group without it. Researchers identified single nucleotide polymorphisms (SNPs) that were associated with the condition. SNPs are changes in DNA in which a nucleotide differs from the one normally in that position and can be used to identify genes linked to the disease.

The research team evaluated DNA, taken from blood or oral samples, of 214 cases and both of their parents, who did not have the condition. The final analysis came from a group of 130 children and their families.

During normal development, the bony plates of the skull are separate during fetal development and early infancy, which allows for growth of the skull. The borders where these bony plates intersect are known as sutures. The sagittal suture usually does not fuse until adulthood. If the midline suture at the top of the head closes too early, a child will develop sagittal craniosynostosis. Without surgical treatment, this can cause increased pressure within the skull, visual problems and learning disabilities.

Sagittal craniosynostosis affects about one in 5,000 newborns and boys are three to four times more likely than girls to have the condition. Prior research has suggested that the condition can recur in families, but the exact genetic causes have not been well understood.

"Our participation in this collaborative effort and our ongoing research into the biology of craniosynostosis will result in tangible changes in how we diagnose and treat craniosynostosis," Dr. Cunningham said.


'/>"/>

Contact: Kathy Porada
kathy.porada@seattlechildrens.org
Seattle Children's
Source:Eurekalert  

Related medicine news :

1. Seattle Physician Shares Health IT Story in the Nation’s Capital
2. Networks it takes a village approach improves dementia care and informs research, study shows
3. Researchers use computer simulations to find true cost of HIV screenings
4. NIH awards Georgia malaria research consortium up to $19.4 million contract
5. Gerontologists say research and data should drive policy, budget decisions
6. Sleeping Pill Linked to Hospital Falls, Researchers Say
7. Daycare has many benefits for children, but researchers find mysterious link with overweight
8. GW Researcher receives grant to study parasitic worm role in bile duct cancer in Southeast Asia
9. Researchers outline effective strategies to prevent teen depression and suicide
10. Researchers report potential new treatment to stop Alzheimers disease
11. Feinstein Institute researchers discover plant derivative
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Seattle Children's Research Institute helps identify causes of sagittal craniosynostosis
(Date:6/27/2016)... Lafayette, California (PRWEB) , ... ... ... a pioneer in the patient payment industry today announced its strategic partnership ... and health system workflows. , The two companies’ proven, proprietary technology combine ...
(Date:6/26/2016)... ... June 27, 2016 , ... Quality metrics are proliferating in cancer ... they remain in the eye of the beholder, according to experts who offered insights ... American Journal of Managed Care. For the full issue, click here . , ...
(Date:6/26/2016)... North Carolina (PRWEB) , ... June 26, 2016 , ... ... release of a new product that was developed to enhance the health of felines. ... for centuries. , The two main herbs in the PawPaws Cat Kidney Support ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... ... June 25, 2016 , ... "With 30 hand-drawn hand gesture animations, ... Christina Austin - CEO of Pixel Film Studios. , ProHand Cartoon’s package transforms ... Final Cut Pro X . Simply select a ProHand generator and drag it above ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016  MedSource announced today ... its e-clinical software solution of choice.  This latest ... possible value to their clients by offering a ... preferred relationship establishes nowEDC as the EDC platform ... MedSource,s full-service clients.  "nowEDC has long been a ...
(Date:6/23/2016)... Any dentist who has made an implant supported ... Many of them do not even offer this as a ... laboratory costs involved. And those who ARE able to offer ... high cost that the majority of today,s patients would not ... Zadeh , founder of Dental Evolutions Inc. and inventor of ...
(Date:6/23/2016)... startling report released today, National Safety Council research shows ... plan to eliminate prescription opioid overdoses. Prescription Nation ... the worst drug crisis in recorded U.S. history, assigned a "Making ... , New Mexico , Tennessee ... states, three – Michigan , Missouri ...
Breaking Medicine Technology: