Osteogenesis Imperfecta Foundation

Dear Colleagues,

Francis Glorieux

Welcome to the spring edition of the Osteogenesis Imperfecta Foundation’s Update for Medical Professionals newsletter! One of the goals of this newsletter is to bridge the partners necessary to collaborate in future medical discoveries and research breakthroughs in the field of OI. Collaborations that lead to important research advances often involve teams of clinicians, biomedical researchers, technology developers, the pharmaceutical industry, and community partners. As a patient advocacy group dedicated to furthering our nearly fifty-year-old mission, the OI Foundation aims to serve as a conduit for communication within the medical, scientific, and research OI communities.

As you read this edition of the Update for Medical Professionals newsletter, you will find recaps for past meetings, information about upcoming meetings, recent publications relevant to OI, funding announcements, and more. We hope you will share this newsletter with your colleagues and visit the OI Foundation’s website designed especially for physicians, nurses and allied health professionals www.oif.org/meded. To help us continue to improve the information on this page, please take a few minutes to complete this survey: https://www.surveymonkey.com/r/8CDQ7PV. We appreciate any feedback and look forward to hearing from you!


Francis Glorieux, OC, MD, PhD
OI Foundation Medical Advisory Council Chair


News from the OI Foundation

OIF Science Meeting Recap

science meetingOn April 19-21, 2017, the OI Foundation gathered more than 100 researchers, clinicians, and medical professionals at the 17th Annual OIF Science Meeting. Co-chaired by Dr. Charlotte Phillips and Dr. Sandesh Nagamani, this important meeting hosted speakers and attendees from the National Institutes of Health (NIH), the Brittle Bone Disorders Consortium (BBDC) sites, and many other centers and labs from across the continent. Speakers presented data on topics ranging from unmet pharmacologic therapeutic needs in OI to extraskeletal involvement and surgical treatment. A poster session of 12 presenters at the end of the first day generated much discussion for clinicians and researchers in every field. The complete recap of the meeting will be available by the end of May. The OI Foundation thanks Dr. Phillips and Dr. Nagamani for their superb work as meeting co-chairs, and the speakers and participants for making this once again a productive gathering. The OI Foundation especially thanks the Buchbinder Family Foundation who makes the Annual OIF Science Meeting possible every year.

OIF Medical Advisory Council (MAC) members with OIF Board President Ken Gudek, Sr.

 Nagamani Phillips
Co-chairs Dr. Sandesh Nagamani and Dr. Charlotte Phillips

2017 OIF Clinic Directory Now- Available Online

2017 clinic directory headerThe OI Foundation maintains a list of hospitals and clinics that offer coordinated treatment for people living with OI and other bone disorders. The OIF Information Center is now updated and available at  www.oif.org/ClinicDirectory. Please email Bonelink@oif.org to request any edits or additions to the list. The OIF Information Center is available to help your patients locate services and resources tailored to their needs. Please remind your patients and colleagues to connect with us for referrals, resources, and support.


Newly Designed Online OIF Information Center for Patient Education

info center half page The OI Foundation is proud to share a new look for the online Information Center! Our newly redesigned Information Center page includes factsheets about OI, community resources, links for support networks, the audio and video learning center, and more! The buttons are easy to navigate to improve the usability of the site and bring more first-time visitors. Visit the new page at www.oif.org/InformationCenter to learn more about OI and stay connected with the OIF and the Unbreakable Spirit® community!


Upcoming Professional Meetings

8th International Conference on Children’s Bone Health (ICCBH) – Wurzburg, Germany
June 10-13, 2017
Several OIF Medical Advisory Council members, including Dr. Francis Glorieux, Dr. Laura Tosi, and Dr. Frank Rauch, will be attending the 8th International Conference on Children’s Bone Health (ICCBH) in Wurzburg, Germany. The ICCBH meeting is a unique educational and networking opportunity for anyone with an interest in bone metabolism and bone mass in children, adolescents, and young adults.

Register before May 26th to save on late fees. Detailed information about the meeting agenda, speakers, and registration can be found at http://www.iccbh.org/.

13th International Conference on Osteogenesis Imperfecta- Oslo, Norway
August 27-30, 2017
OI OsloThe 13th International Conference on Osteogenesis Imperfecta (OIOslo2017) is being held in Oslo, Norway August 27th – 30th 2017. The scientific program will strive to highlight state-of-the-art clinical practices, recent advances, as well as new data and perspectives in a format designed to encourage interaction and collaboration between all stakeholders. The event will take place in the Quality Hotel Expo situated in green surroundings by the fjord with short distance to airport express and city centre. Registration and abstract submission is open. Early bird registration closes May 3rd, and standard registration closes July 31st. Please visit this webpage for more details: www.oioslo2017.org.

The American Society for Bone and Mineral Research (ASBMR)- Denver, Colorado
September 8-11, 2017
ASBMRThe OI Foundation will be represented at the 2017 ASBMR Annual Meeting in the exhibit hall and on the meeting program. Look for more details about the booth location and program sessions relevant to OI in the next edition of this newsletter. For more general information about the meeting, please visit their website at http://www.asbmr.org/annual-meeting.


2017 International Workshop on Musculoskeletal and Neuronal Interactions- Montreal, Quebec, ISMNICanada
October 6-8, 2017
OI Foundation Medical Advisory Council member Dr. Frank Rauch is organizing the 2017 International Workshop for Musculoskeletal and Neuronal Interactions on October 6-8, 2017 at the Shriners Hospital for Children- Canada. This meeting is for clinical and basic scientists who have an interest in the interaction between nerves, muscle and bone. The scope ranges from basic molecular mechanisms to clinical aspects, from pathophysiology to treatments on topics such as mechanical forces and biological factors, rare diseases and common disorders, musculoskeletal development and ageing. The workshop is being organized in collaboration with Shriners Hospital for Children and the International Society of Musculoskeletal and Neuronal Interactions. For more information, please visit www.ismni.org/IWMNI2017/.

Clinical Meeting on Osteogenesis Imperfecta- Baltimore Area, Maryland
October 5-7, 2017
clinical meeting flier 2017OIF Medical Advisory Council members Dr. Jay Shapiro and Dr. Cathleen Raggio are hosting a clinical meeting on OI October 5-7, 2017 at the Embassy Suites by Hilton Baltimore at BWI Airport. This meeting will cover the clinical perspective of topics such as growth impairment, dental disease, pulmonary function, cardiac disease, rehabilitation and function, orthopedic treatment, pharmacologic treatment, quality of life issues and much more!  There is no charge for clinicians to attend this meeting; however, travel accommodations must be made individually. Please share this information with your colleagues who want to learn more about clinical strategies to improve the care and treatment of individuals living with OI. Email bonelink@oif.org or call (301) 947-0083 by Monday, July 31, 2017 to learn more and register for this meeting.



New Publications - Osteogenesis Imperfecta and Related Rare Bone Research

The following recent publications (September 2016 - April 2017) have been recommended by members of the OI Foundation’s Medical Advisory Council:

Clinical Research
Dwan, K., Phillipi, C. A., Steiner, R. D., & Basel, D. (2014). Bisphosphonate therapy for osteogenesis imperfecta.  Cochrane Database of Systemic Reviews, 7, CD005088.

Folkestad, L., Hald, J. D., Gram, J., Langdahl, B. L., Hermann, A. P., Diederichsen, A. C., Abrahamsen,  B., & Brixen, K. (2016). Cardiovascular disease in patients with osteogenesis imperfecta—a nationwide, register-based cohort study. International Journal of Cardiology225, 250-257.

Forestier-Zhang, L., Watts, L., Turner, A., Teare, H., Kaye, J., Barrett, J., Cooper, C., Easter, R., Woodsworth, P., Javaid, M.K., & Pinedo-Villanueva, R. (2016). Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Orphanet Journal of Rare Diseases11(1), 160.

Franzone, J. M., & Kruse, R. W. (2016). Intramedullary nailing with supplemental plate and screw fixation of long bones of patients with osteogenesis imperfecta: operative technique and preliminary results. Journal of Pediatric Orthopedics. Part B, doi: 10.1097/BPB.0000000000000405.

Franzone, J. M., Finkelstein, M. S., Rogers, K. J., Kruse, R. W.  Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST).  Journal of Pediatric Orthopedics in press 2017.

Golshani, K. R., Ludwig, M. R., Cohn, P. L., & Kruse, R. (2016). Osteogenesis Imperfecta. Delaware medical journal88(6), 178-185.

Glorieux, F. H., Devogelaer, J. P., Durigova, M., Goemaere, S., Hemsley, S., Jakob, F., Junker, U., Ruckle, J., Seefried, L., & Winkle, P. J. (2017). BPS804 Anti‐sclerostin Antibody in Adults with Moderate Osteogenesis Imperfecta: Results of a Randomized Phase 2a Trial. Journal of Bone and Mineral Research, doi: 10.1002/jbmr.3143.

Graff, K., & Syczewska, M. (2017). Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). European Journal of Pediatrics, 176(3), 311-316.

Hald, J. D., Evangelou, E., Langdahl, B. L., & Ralston, S. H. (2015). Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta‐Analysis of Placebo‐Controlled Trials. Journal of Bone and Mineral Research30(5), 929-933.

Joeng, K.S.*, Lee, Y.C.*, Lim, J., Chen, Y., Jiang, M.M., Munivez, E., Ambrose, C., and Lee, B. H. (2017) Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.  Journal of Clinical Investigation, in press. *equal contribution.

Marr, C., Seasman, A., & Bishop, N. (2017). Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare10, 145-155.

Pouliot-Laforte, A., Lemay, M., Rauch, F., & Veilleux, L. N. (2017). Static postural control in youth with osteogenesis imperfecta type I. Archives of Physical Medicine and Rehabilitation, doi: 10.1016/j.apmr.2017.03.018.

Trejo, P., Fassier, F., Glorieux, F. H., & Rauch, F. (2016). Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship with Bisphosphonate Treatment. Journal of Bone and Mineral Research, 32(5), 1034-1039.

Wallace, M. J., Kruse, R. W., & Shah, S. A. (2017). The Spine in Patients With Osteogenesis Imperfecta. Journal of the American Academy of Orthopaedic Surgeons25(2), 100-109.


Basic Research
Duran, I., Martin, J. H., Weis, M. A., Krejci, P., Konik, P., Li, B., Alanay, Y., Lietman, C., Lee, B., Eyre, D., Cohn, D. H., & Krakow, D. (2017). A Chaperone Complex Formed by HSP47, FKBP65 and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. Journal of Bone and Mineral Research, doi: 10.1002/jbmr.3095.

Lietman, C. D., Lim, J., Grafe, I., Chen, Y., Ding, H., Bi, X., Ambrose, C.G., Fratzl-Selman, N., Roschger, P., Klaushofer, K., Wagermaier, W. Schmidt, I. Fratzl, P., Rai, J., Weis, M., Eyre, D. Keene, D. R., Krakow, D., & Lee, B. H. (2017). Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. Journal of Bone and Mineral Research, doi: 10.1002/jbmr.3108.


Translational Research
Bardai, G., Moffatt, P., Glorieux, F. H., Rauch, F. (2016) DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: Diagnostic yield and mutation spectrum. Osteoporosis International, 27(12), 3607-3613.

Bardai, G., Ward, L. M., Trejo, P., Moffatt, P., Glorieux, F. H., & Rauch, F. (2017). Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. Osteoporosis International, doi: 10.1007/s00198-017-4031-2.

Bi, X., Grafe, I., Ding, H., Flores, R., Munivez, E., Jiang, M. M., Dawson, B., Lee, B. & Ambrose, C. G. (2017). Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti‐TGF‐β Treatment. Journal of Bone and Mineral Research, 32(2), 347-359.

Cabral, W. A., Ishikawa, M., Garten, M., Makareeva, E. N., Sargent, B. M., Weis, M., Barnes, A. M., Webb, E. A., Shaw, N. J., Ala-Kokko, L., Lacbawan, F. L., Högler, W., Leikin, S., Blank, P. S., Zimmerberg, J., Eyre, D. R., Yamada, Y., &  Marini, J. C. (2016). Absence of the ER cation channel TMEM38B/TRIC-B disrupts intracellular calcium homeostasis and dysregulates collagen synthesis in recessive osteogenesis imperfecta. PLoS Genet12(7), e1006156.

Citron, K., Veneziale, C., Marino, J., Carter, E. M., Jepsen, K. J., & Raggio, C. (2017). Bone robusticity in two distinct skeletal dysplasias diverges from established patterns. Journal of Orthopaedic Research, doi: 10.1002/jor.23543.

Drake, M. T., Collins, M. T., & Hsiao, E. C. (2017). The Rare Bone Disease Working Group: report from the 2016 American Society for Bone and Mineral Research Annual Meeting. Bone, doi: 10.1016/j.bone.2017.01.021.

Kang, H., & Marini, J. C. (2017). Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia. Translational Research181, 27-48.

Lindert, U., Cabral, W. A., Ausavarat, S., Tongkobpetch, S., Ludin, K., Barnes, A. M., Yeetong, P., Weis, M., Krabichler, B., Srichomthong, C., Makareeva, E. N., Janecke, A. R., Leikin, S., Röthlisberger, B., Rohrbach, M., Kennerknecht, I., Eyre, D. R., Suphapeetiporn, K., Giunta, C., Marini, J. C., & Shotelersuk, V. (2016). MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Communications7 ,11920.

Jacobsen, C. M. (2017). Application of anti-Sclerostin therapy in non-osteoporosis disease models. Bone96, 18-23.

Lim, J., Grafe, I., Alexander, S., & Lee, B. (2017). Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone, doi: 10.1016/j.bone.2017.02.004.

Marom, R., Lee, Y. C., Grafe, I., & Lee, B. (2016). Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172(4), 367-383.

Perosky, J. E., Khoury, B. M., Jenks, T. N., Ward, F. S., Cortright, K., Meyer, Barton, D. K., Sinder, B.P., Marini, J. C., Caird, M. S., & Kozloff, K. M. (2016). Single dose of bisphosphonate preserves gains in bone mass following cessation of sclerostin antibody in Brtl/+ osteogenesis imperfecta model. Bone93, 79-85.

Webb, E. A., Balasubramanian, M., Fratzl-Zelman, N., Cabral, W. A., Titheradge, H., Alsaedi, A., Saraff, V., Vogt, J., Cole, T., Stewart, S., Crabtree, N.J., Sargent, B.M., Gamsjaeger, S., Paschalis, E. P., Roschger, R., Klaushofer, K., Shaw, N. J., Marini, J. C., & Högler, W. (2017). Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. Journal of Clinical Endocrinology and Metabolism, doi: 10.1210/jc.2016-3766.


In the News

shulz and phillipsImmediate past co-chair of the OIF Scientific Meeting and former recipient of the Michael Geisman Fellowship Dr. Charlotte Phillips was recognized by the University of Missouri- Columbia in January 2017 for her lab research. Dr. Phillips, Dr. Schulz, and their team studied the involvement of myostatin in the bone health of mouse models of OI. Read the full article at this link: https://eurekalert.org/pub_releases/2017-01/uom-som013017.php

(Pictured L to R) Laura Schulz, Ph.D., associate professor of obstetrics, gynecology and women's health; and Charlotte Phillips, Ph.D., associate professor of biochemistry and child health at the MU School of Medicine. (credit:Justin Kelley, University of Missouri Health)


Funding and Career Development Opportunities

From the National Institutes of Health (NIH)
NIH, the largest public funder of biomedical research in the world, offers funding for many types of grants, contracts, research training and career development programs, and programs that help repay loans for researchers. The NIH Office of Extramural Research maintains a robust website that walks prospective applicants through the grants process. The site explains a researcher’s and grantee institution’s responsibilities after NIH funds an award. The website also provides an orientation to the NIH, help with planning and writing applications and a description of peer review. The NIH Center for Scientific Review has additional videos explaining the peer review process.

The majority of NIH-funded grants are "investigator-initiated," meaning the researcher selects the scientific question and the approach for answering it. These projects represent the best, most promising ideas from scientists at universities, academic medical centers, and research institutions across the country. However, understudied areas may get some targeted attention in the form of topic-specific program announcements or requests for applications. Investigators can subscribe to the NIH Guide to Grants and Contracts—the official publication for grant policies, guidelines and funding opportunities—to learn about initiatives from NIH Institutes and Centers.

Research in osteogenesis imperfecta falls within the mission of several NIH Institutes. For more information, visit the Institute websites or e-mail the OI staff contact listed below:

Thank you for reading this edition of the OI Foundation’s Update for Medical Professionals. If you find that this newsletter is not for you, simply click ‘Email Preferences’ at the bottom of any email. The next edition of this newsletter will be published towards the end of the summer. We look forward to connecting with you in the future!
Osteogenesis Imperfecta Foundation

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