Non-Mendelian Birth Defects Research
Boyd Genetics Lab
Craniosynostosis Study
Invitation to Participate
Learn more about our research study, what to expect, and how to register. We are currently recruiting families with at least one child with craniosynostosis. There is no charge to participate in this study.
We are researchers from the International Craniosynostosis Consortium. Our research involves studying the causes of craniosynostosis and the ultimate goal is to identify genes and environmental factors causing this condition.
We are recruiting families with at least one child with craniosynostosis. If they agree to participate each family member will need to sign a consent form. We will arrange for a clinical examination and blood samples collection from the child and his or her biological parents. These samples will be prepared so that we will not need another sample in the future. The families will not benefit directly, but we hope by learning about the causes of craniosynostosis that some day we will be able to provide better care to craniosynostosis patients. The results of our study will be published, but the participants will be coded by identification number and will remain anonymous.
These families will also be asked to participate in a survey, designed to identify environmental factors that may be causing craniosynostosis. All responses to the questionnaire will be kept confidential. There will be no charges to participate in the study.
Please contact Dr. Simeon Boyd, M.D. to inquire about our study, or to make arrangements for participation.
Simeon Boyd, MD
Professor of Pediatrics and Clinical Genetics
sboyd@ucdavis.edu
Phone: 916-703-0446
Location:
University of California Davis
4625 2nd Avenue
Research Building III, Room 1204
Sacramento, CA 95817
Somos investigadores del consorcio internacional de craneosinostosis. Nuestra investigación consiste en estudiar las causas de la craneosinostosis y el objetivo final es identificar los genes y factores ambientales que causan esta condición.
Estamos reclutando a las familias con al menos un niño con craneosinostosis. Si están de acuerdo participar cada miembro de la familia deberá firmar un formulario de consentimiento. Haremos los arreglos para una colección muestras clínica sangre y examen del niño y sus padres biológicos. Estas muestras se prepararán para que en el futuro no necesitaremos otra muestra. Las familias no se benefician directamente, pero esperamos conocer las causas de la craneosinostosis que algún día que seremos capaces de proporcionar mejor cuidado a los pacientes de craneosinostosis. Se publicarán los resultados de nuestro estudio, pero los participantes serán codificados por número de identificación y serán siendo anónimos.
Estas familias también se pedirá a participar en una encuesta, diseñada para identificar los factores ambientales que pueden estar causando craneosinostosis. Todas las respuestas al cuestionario se mantendrá confidenciales. No habrá ningún cargo para participar en el estudio.
Póngase en contacto con el Dr. Simeon Boyd, M.D. para preguntar acerca de nuestro estudio, o para hacer arreglos para la participación.
Simeon Boyd, M.D.
Profesoe de Pediatría y Clinica Genetica
sboyd@ucdavis.edu
Telefono: 916-703-0446
Ubicación:
University of California Davis
4625 2nd Avenue
Research Building III, Room 1204
Sacramento, CA 95817
Siamo un gruppo di ricercatori che costituiscono il Consorzio Internazionale per le Craniosinostosi ("International Craniosynostosis Consortium"). Il Coordinatore internazionale di questo consorzio è il Dr. Simeon Boyd, M.D. Il nostro progetto intende studiare le cause delle craniosinostosi, con l’obiettivo finale di identificare i geni ed i fattori ambientali alla base di questa malattia.
Stiamo reclutando famiglie che comprendano almeno un individuo affetto da craniosinostosi. A tutti i membri delle famiglie che vorranno partecipare allo studio, verrà chiesto di firmare un consenso informato. Di seguito, l’individuo affetto sarà sottoposto ad un esame clinico. Ci servirà inoltre raccogliere un prelievo di sangue dell'individuo affetto e dei suoi genitori biologici. Le famiglie non avranno alcun beneficio diretto dalla partecipazione allo studio, ma ci auguriamo di riuscire ad identificare le cause delle craniosinostosi, in modo da poter essere in grado di fornire cure più appropriate per i pazienti affetti, in futuro. I risultati ottenuti in questo studio saranno oggetto di pubblicazioni scientifiche, ma tutte le informazioni relative ai pazienti ed alle loro famiglie rimarranno anonime e non riconoscibili.
Alle famiglie partecipanti verrà anche chiesto di rispondere ad un questionario, finalizzato ad identificare i fattori di rischio ambientali che possano contribuire a causare le craniosinostosi. Tutte le risposte fornite nel questionario verranno mantenute riservate. Le famiglie che vorranno partecipare allo studio non dovranno sostenere alcun costo.
Le famiglie interessate possono contattare la Dott.ssa Wanda Lattanzi (Medico Genetista) e la Dott.ssa Marta Barba (Biotecnologo) per ulteriori informazioni relative a questo studio e per organizzare le modalità di adesione.
| Wanda Lattanzi, M.D. Ph.D. Institute of Anatomy and Cell Biology Universita' Cattolica del Sacro Cuore School of Medicine, Rome IT Email: wanda.lattanzi@rm.unicatt.it Ph: +39 06 30154915 - 4711 Fax: +39 06 30154813 |
Marta Barba, Ph.D. Institute of Anatomy and Cell Biology Universita' Cattolica del Sacro Cuore School of Medicine, Rome IT Email: marta.barba@rm.unicatt.it Ph: +39 06 30154915 - 4711 |
Ние сме учени от Международния Консорциум по краниосиностози. Ръководител е проф. д-р Симеон Бояджиев. Нашето изследване включва изучаване на причините за краниосиностозата, като основната цел е да се идентифицират гените и факторите на околната среда, причиняващи това състояние.
За нас интерес представляват семейства с поне едно дете с краниосиностоза. Ако те се съгласят да участват, всеки член на семейството ще трябва да подпише формуляр за информирано съгласие. Ние ще организираме провеждането на клинично изследване и ще вземем кръвни проби от детето и неговите/нейните биологични родители. Тези проби ще бъдат съхранявани така, че ние няма да имаме нужда от нови проби в бъдеще. Семействата няма да имат директна полза, но се надяваме, че след като установим причините за краниосиностозата, някой ден ще бъдем в състояние да осигурим по-добри грижи за пациентите с това заболяване. Резултатите от нашето изследване ще бъдат публикувани, но участниците ще бъдат кодирани чрез идентификационен номер и ще останат анонимни.
Семействата ще бъдат поканени да участват в анкета с цел изясняване факторите на околната среда, които биха могли да причинят краниосиностоза. Отговорите в попълнения въпросник ще бъдат съхранявани конфиденциално. Участието в изследването е напълно безплатно.
Относно въпроси или уреждане на подробностите по вашето участие в проекта моля да се свържете с проф. д-р Емил Симеонов (+359888 308 773; SIMEONOV.emilg@Gmail.com ) или с надежда Янева (+359878 233 416; nadeyaneva@Gmail.com )
International Craniosynostosis Consortium
The International Craniosynostosis Consortium (ICC) includes physicians and scientists with special expertise and interests in craniosynostosis. The ICC web site and databases are hosted on a secure server at the University of California, Davis and are maintained under Dr. Simeon Boyd's approved IRB protocol. Our goal is to enroll and characterize as many affected families as possible in order to create clinical databases and sample repositories that will allow us to better understand and prevent craniosynostosis. We encourage both medical professionals and patients to contact us in order to contribute to our mission and to receive information about craniosynostosis. The ICC is supported through a NIH-NIDCR research grant R01 DE016886 to Dr. Simeon Boyd. The study sites and the local principal investigators and study coordinators are listed adjacent.
- University of California, Irvine
Virginia Kimonis, M.D., Principal Investigator
Phone: (949) 824-0521
Fax: (949) 824-6388 - Cedars-Sinai Hospital, Los Angeles
John Graham M.D., Sc.D., Principal Investigator
Phone: 310-423-9935 - Pennsylvania State University
Joan Richtsmeier, Ph.D, Principal Investigator
Phone: 814-865-2509 - Children's Hospital Los Angeles
University of Southern California
Pedro A. Sanchez-Lara, M.D., Principal Investigator
Phone: 323-361-1854
Fax: 323-361-4764 - Stanford University
Jon Bernstein M.D., Ph.D., Principal Investigator
Louanne Hudgins, M.D., Co- investigator
Phone: 650-723-6858
Fax: 650-498-4555 - University of California, San Francisco (UCSF)
Ophir Klein, M.D. Ph.D, Principal Investigator
Phone: 415-476-4719
Fax: 415-476-9513 - Seattle Children's
Michael L. Cunningham, M.D., Ph.D., Principal Investigator
Phone: 206-987-0184 - Golisano Children's Hospital
Clinton Morrison, M.D.
Phone: 585-275-1000
- Andrew Wilkie, M.D.
Weatherall Institute of Molecular Medicine
Oxford, United Kingdom - Maria Rita Passos-Bueno, M.D.
University of Sao Paolo, Brazil - Bernd Wollnik, M.D.
Institute of Human Genetics
University of Cologne, Cologne, Germany
Email: bwollnik@uni-koeln.de
Phone: +49-221-478 86817
FAX: +49-221-478 86812 - Emil Simoenov, M.D.
Medical University
Sofia, Bulgaria
Email: simeonov.emilg@gmail.com - Tony Roscioli, M.D.
Department of Molecular Genetics
Royal Prince Alfred Hospital
The University of Sidney, Australia - Eva Olah, M.D., Ph.D., D.Sc. and Beata Bessenyei, M.Sc.
Institute of Pediatrics, Clinical Genetic Center
Medical and Health Science Center
University of Debrecen, Hungary
Email: bbessenyei@med.unideb.hu
Phone: +3652-255-072
Fax +3652-255-446 - Wanda Lattanzi, M.D., Ph.D.
Institute of Anatomy and Cell Biology
Universita' Cattolica del Sacro Cuore
School of Medicine, Rome IT
Email: wanda.lattanzi@rm.unicatt.it - Erika Kague, Ph.D.
Biomedical Sciences
University of Bristol
Bristol, UK
Email: erika.kague@bristol.ac.uk
Registration Form
We are recruiting families with at least once child with craniosynostosis. We thank you for your interest in taking part in our study of craniosynostosis.
Printable Forms
Ways to reach us
Contact the Lab
We are happy to collaborate and provide genetic expertise to clinicians and researchers interested in multifactorial human disorders.
We also invite interested individuals and families to learn more about our lab focus on the genetic and environmental factors contributing to the risk of birth defects and consider registering to support and participate in our research studies.
Boyd Genetics Lab
4625 2nd Avenue
Sacramento, CA 95817
