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:2/6/2016)... ... 06, 2016 , ... Research has shown that building shame ... frequency and level of relapse. , At the 2016 iaedp Symposium, ... explore the critical tasks of the recovery phase and beyond including relapse prevention ...
(Date:2/5/2016)... ... February 05, 2016 , ... Today, the Whole-Food Warrior ... that the much-anticipated feature with author Jahnavi Foster, specialist in healthy vegetarian cuisine, will ... , Each week, on his weekly Whole-Food Warrior TV show, Frank Davis highlights Whole-Food ...
(Date:2/5/2016)... Santa Rosa, CA (PRWEB) , ... February 05, ... ... are pleased to announce the addition of micro-needling services in their Napa Valley ... appearance. The founders of Plastic Surgery Associates, Dr. Canales and Dr. Furnas, are ...
(Date:2/5/2016)... ... February 05, 2016 , ... ... to funding innovative lymphoma research and serving the lymphoma community through a comprehensive ... once again host, Swirl, A Wine Tasting Event at the La Gorce Country ...
(Date:2/5/2016)... , ... February 05, 2016 , ... Regular gym users ... themselves having to wait longer to access the treadmills. It’s a predictable trend. After ... to lose weight and get in shape by joining gyms, starting new walking or ...
Breaking Medicine News(10 mins):
(Date:2/4/2016)... LONDON , Feb. 4, 2016 ... Summary Global Markets Direct,s, ,Wegener Polyangiitis - ... the Wegener Polyangiitis,s therapeutic pipeline. This report ... Wegener Polyangiitis, complete with comparative analysis at various ... action (MoA), route of administration (RoA) and molecule ...
(Date:2/4/2016)... Feb. 4, 2016 Summary Breast cancer, ... and the most common cancer in women worldwide, accounting ... exceedingly prevalent. The number of women diagnosed with breast ... the number of deaths has declined due to earlier ... has been revolutionized in the past four decades, especially ...
(Date:2/4/2016)... Frontier Pharma: Chronic Obstructive Pulmonary Disease ... Chronic Obstructive Pulmonary Disease (COPD) is ... the airways and lungs. Persistent breathing difficulties and ... one of the leading causes of morbidity and ... COPD is linked to cumulative exposure to risk ...
Breaking Medicine Technology: