University of California Davis professor of genetics and paediatrics Simeon Boyd has got a almost $4 million, five-year grant from the National Institute of Dental and Craniofacial Research to lead a group of doctors and researchers from more than 10 centers in the United States and seven international sites, which includes Hungary, Italy, UK, Bulgaria, Australia, Germany and Brazil to research craniosynostosis, the premature fusion of the bony plates of the skull in infants.
The researchers are members of the International Craniosynostosis Consortium, whose target is to discover the genetic and environmental reasons of craniosynostosis, which affects roughly 1 in 2,500 newborns globally, to be able to find clues to prevention, better therapies, and ultimately, a cure.
Boyd, who is a researcher affiliated with the UC Davis MIND Institute stated
“Our aim is not only to recognize the genetic reasons of all kinds of craniosynostosis, but also to help in the early diagnosis of the problem, by determining biomarkers. This may enable for nonsurgical therapeutic intervention in utero in the future.” The condition also have neuro developmental effects: Roughly half of sufferers with craniosynostosis also may have learning problems.
During fetal development, the skull is made up of different bony plates that enable the child’s head to develop after birth. The borders between the plates usually do not fuse entirely until a infant is about 2, leaving temporary soft spots at the intersections of the seams of the skull.
In craniosynostosis the bones fuse early, resulting in the kid to have an unusually shaped head. The problem can result in problems due to brain compression, like visual issues and learning problems.
“This is not only a skull disease,” Boyd stated. “It is a perturbation of the brain and the skull, in which the developing brain is irregular and leads to enhanced distension of the envelope of the brain so that signaling molecules that generally would keep the sutures open do not function effectively.”
Based upon the seriousness of the problem, children born with craniosynostosis regularly may need extensive neurosurgical intervention to separate the fused bones of the skull to ensure that the child’s brain can develop.
There are a number of various kinds of craniosynostosis, based on which suture is prematurely fused. For instance, when the sagittal suture at the top of the head is fused the problem is known as in sagittal synostosis, also referred to as scaphocephaly. Sagittal synostosis is the very common type of the condition. In coronal synostosis the coronal sutures, which run from the top of the head to the ears, are fused. Many named problems, like as Muenke syndrome, have craniosynostosis among their symptoms.
In 2012, Boyd and his consortium co-workers presented a landmark research in Nature Genetics, which identified that two areas of the human genome are connected with a type of the condition, sagittal craniosynostosis. Even though the problem had long been considered to be partially identified by genes – it is 3 times more common in boys than in girls, and identical twins are much more likely to both be affected than fraternal twins – the genes connected with the disorder had not been earlier identified.
Recognition of the genetic foundation for the conditions is only a initial step in preventive and therapeutic methods, Boyd said.
“We want to reduce babies from being born with these problems,” he said.
Consortium scientists from the US contain
- Joan Richtsmeier, Pennsylvania State University
- Joan Stoler, Boston Children’s Hospital
- John Graham, Cedars-Sinai
- Jon Bernstein, Stanford University
- Michael Cunningham, University of Washington
- Ophir Klein, UC San Francisco
- Paul Romitti, University of Iowa
- Pedro Sanchez-Lara, Children’s Hospital Los Angeles
- Virginia Kimonis, UC Irvine
Consortium researchers other than US contain
- Andrew Wilkie, Oxford University, United Kingdom
- Bernd Wollnik, University of Cologne, Germany
- Eva Olah, University of Debrecen, Hungary
- Emil Simeonov and Radka Kaneva, Medical University, Sofia Bulgaria
- Maria Rita Passos-Bueno, University of Sao Paolo, Brazil
- Tony Roscioli, University of Sidney, Australia
- Wanda Lattanzi, Universita Cattolica del Sacro Cuore, Italy