The Registry Working Group Team includes key partners and the members of the Registry Working Group.
FDF is comprised of patients linked by common health problems related to rare conditions resulting in excess bone growth. The FDF’s mission is to promote and support research. The disease population served by the Foundation and their healthcare providers are highly motivated. Patients are enthusiastic about sharing data and participating in research. The FDF is a robust organization with a successful record of accomplishment of engaging patients and forming strategic partnerships with researchers and clinicians. To date, the FDF has built a membership of over 900 patients, family members, and supporters; held 5 national patient and family conferences (2004-2010); and hosted an international scientific conference on FD/MAS and cherubism at NIH jointly supported by FDF, NIH Office of Rare Diseases and NIDCR
NORD will provide the Online Platform (registry) allowing rare disease patients to share their experiences, which can be queried to help generate hypothesis and potentially identify Patient Centered Outcomes Research Questions. NORD will also share its vast experience with developing online communities. NORD has a long-standing record as a national leader in education, advocacy, research and patient services for patients with rare diseases. The NORD platform’s technical design prioritizes the privacy and security needs of rare disease populations. The platform was designed to be as convenient for users as possible, to promote obtaining and retaining research participants. The organization’s strong partnerships with national and international stakeholders allows for the technical design and implementation to reflect the spirit of collaboration and address the needs of all members of the community.
A portion of this project is funded by PCORI.
PCORI is an independent, non-profit organization authorized by Congress in 2010 to fund comparative effectiveness research that will provide patients, their caregivers, and clinicians with the evidence needed to make better-informed health and healthcare decisions. PCORI is committed to seeking input from a broad range of stakeholders to guide its work.
Registry Working Group Members
Dr. Boyce is a pediatric endocrinologist and staff physician scientist in the Skeletal Clinical Studies Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health (NIH).
After completing undergraduate studies at the University of Virginia, she received medical and general pediatrics training at Eastern Virginia Medical School, followed by an endocrinology fellowship at the NIH. She holds a faculty appointment at Children’s National Health System, and is active in the joint NIH and Children’s National Health System’s Pediatric Fellowship training program, as well as the Children’s National Bone Health Program.
Dr. Boyce’s research focuses on rare disorders of bone and mineral metabolism, including fibrous dysplasia/McCune-Albright syndrome, disorders of fibroblast growth factor-23, and hypoparathyroidism.
Dr. Burke began an NIDCR fellowship in July 2013 after completion of Oral and Maxillofacial Surgery training at the Massachusetts General Hospital in Boston, MA. Prior to this, she obtained her D.M.D. (2007) and M.D. (2010) from Harvard University.
Her current research focuses on the pathophysiology of benign skeletal diseases such as fibrous dysplasia and giant cell lesions. This registry will allow for collection of reliable, evidence-based data – something that is necessary for the management of FD.
Specifically, Dr. Burke is interested in developing a new, comprehensive classification system for benign craniofacial fibro-osseous lesions, which have long since been misdiagnosed and mistreated. She believes that an FD patient registry would not only benefit patients and families dealing with a rare disease, but will provide more data for clinician scientists such as her.
David Burr is a University Distinguished Professor of Anatomy and Cell Biology at Indiana University School of Medicine, and Professor of Biomedical Engineering at IUPUI. He currently serves as the Associate Vice Chancellor for Research at IUPUI and is the Director of the IBMS Sun Valley Workshop on Musculoskeletal Biology. He is a fellow of the American Association of Anatomists, and serves as Editor-in-Chief for Current Osteoporosis Reports, Editor for Bone and Associate Editor of the J of Musculoskeletal and Neuronal Interactions.
Dr. Burr joined the Indiana University School of Medicine faculty in 1990 as Chair of the Department of Anatomy (1990-2010), following faculty positions at the University of Kansas and West Virginia University Medical Schools. He served as President of the American Association of Anatomists (2007-2009) and the Orthopaedic Research Society.
He is the author of more than 235 research articles in the peer-reviewed literature, 50 book chapters and reviews, and five books on the structure, function and mechanics of bone.
Jen Coleman has been an active Board member of the FDF since 2007. Jen’s son was diagnosed with Polyostotic McCune-Albright Syndrome (MAS) when he was 8 years old.
Jen Coleman and her son, Max (now 17 years of age) began a kids’ triathlon in their home town of Midland, MI to raise money for the FDF. The race ran for six years and raised over $50K for the FDF.
George Eckert is the Biostatistician Supervisor in the Department of Biostatistics at the Indiana University School of Medicine and the Design and Biostatistics Program Manager for the Indiana CTSI Design and Biostatistics Program.
He has over 20 years of experience collaborating with medical, dental, and nursing researchers.
Specifically related to this working group, George Eckert has experience with research projects investigating health-related quality of life in patients with chronic medical conditions.
Catherine Fairchild is the President of the Fibrous Dysplasia Foundation. She is the parent of a teenage son with MAS/FD. Her son navigates the challenges of severe FD with a gracious and charming personality, and a bit of a wicked wit. Catherine lives in Baton Rouge, Louisiana.
Justin Heral, 23, is from Fort Wayne Indiana. He was diagnosed with Monostotic Fibrous Dysplasia at age 13.
A graduate of North Side High School, Justin played on the varsity soccer team four years, serving as captain his junior and senior years. Currently he is double majoring in Animation and Graphic Design at IPFW.
Justin has volunteered to apply his creative arts talents to create a logo and to assist in the design of a website for the Fibrous Dysplasia Foundation.
Lisa Heral is a member of the FD/MAS Patient Registry Steering Committee She is an informatics research nurse and project manager.
She served on the Board of Directors of the Fibrous Dysplasia Foundation between 2005 and 2016 and has engaged in many activities over the years to promote rare diseases research including; NIH-PhenX Toolkit Working Group, NIH-Global Rare Disease Repository Steering Committee and Advocacy Panel for the RUDY Project in the United Kingdom / University of Oxford, England.
Her passion for health information technology and rare diseases stems from her personal experience as a parent of an individual diagnosed with FD at age 13.
Julie Hughbanks is a medical library manager at Parkview Health System in Fort Wayne Indiana. She has over a decade of experience in medical librarianship; and, prior professional experience in secondary research and marketing.
Julie Hughbanks holds a Master of Library Science degree and a post-graduate Certificate of Clinical Informatics from Johns Hopkins.
As an advocate of registries for research, she is looking forward to applying her knowledge and experience to support the Fibrous Dysplasia Foundation’s Registry.
Jacqueline Jackson has been has been with the Hereditary Genomics Division in the Department of Medical and Molecular Genetics at Indiana University School of Medicine for 30 years.
She is a 30 year member of the Huntington Disease Venezuelan Collaborative Research Team responsible for finding the Huntington gene. Other studies include the National Cell Repository for Alzheimer’s Disease (NCRAD), the Consortium on the Genetics of Alcoholism, the National Research Roster for Huntington Disease Patients and Families and several Michael J Fox Foundation research studies in Parkinson Disease including the Parkinson’s Progression Markers Initiative Biorepository.
Jacqueline Jackson has been responsible for the direction of numerous hereditary research studies. The focuses of these studies are disease registries and biospecimen repositories primarily dealing with neurological disorders.
Dr. Javaid completed medical training at Charing Cross and Westminster Medical School, specializing in adult rheumatology at the Wessex Deanery. During that time, he completed a PhD examining the maternal determinants of intra-uterine bone growth as part of an ARC Clinical Fellowship at the University of Southampton. In his last year of clinical training, he was fortunate to be awarded an ARC traveling fellowship and worked with the OA group in UCSF to study the role of vitamin D and bone in lower limb OA. Since his return to the UK, he has been appointed as Associate Professor in Metabolic Bone Disease/ Honorary consultant Rheumatologist at Oxford. His research interests include the role of epidemiology of musculoskeletal diseases with a focus on rare diseases of the bone, mechanism of bone pain and lead for the NIHR RD TRC rare bone diseases initiative and musculoskeletal Genomics Interpretation Partnership.
Amanda Konradi is a cherubism patient and caregiver; she also has siblings and a 17 year old daughter with the same disease.
The rarity of the disease and lack of information about its cause and treatment pushed her, her parents and siblings to participate in studies in the late 1990s to discover its genetic basis. Subsequently, she and her two children have donated blood and tissue to researchers investigating other molecular aspects of cherubism.
Dr. Konradi has served as the Secretary of the Board of Directors of the Fibrous Dysplasia Foundation. In addition to managing the website, she has maintained the membership data base since 2011 and coordinates fundraising appeals. She has had direct email contact with at least half of the active membership.
Dr. Konradi has assisted Lisa Heral with planning for the Fibrous Dysplasia Foundation registry and will continue to serve in this capacity.
Jacqui Kraska is the Research Programs Manager for the National Organization of Rare Disorders, and in her role, oversees the management of NORD’s Research Grants Program and NHS Registry Program.
Jacqueline Kraska has over ten years of experience in overseeing the strategic direction, development and management of clinical research. In her career she has been employed in academia directly supporting chief investigators and research teams; in government bodies developing standard policies, procedures and tools to manage research for non-commercial and commercial; the healthcare sector working directing with clinicians and their teams; and finally the non-profit field to support patients and their advocates to engage in the research process, which interests her most of all.
Her well-rounded knowledge of working with all parties involved in research from creation of a protocol to funding and recruitment of patients will be beneficial in supporting the FDF project.
Carly Levin is a senior at Vanderbilt University double majoring in Human Organizational Development and Child Development. She is very dedicated to academics and has been on the Dean’s List every semester.
Her personal experience with a chronic bone disease, fibrous dysplasia, has shaped her passion to help others who suffer from illnesses. On campus, she participates in the Best Buddies Program assisting young adults with disabilities, and she serves on the Family Relations Executive Committee for the Vanderbilt Dance Marathon that enables her to directly assist families and children from Vanderbilt Children’s Hospital.
Carly Levin is a member of the Fibrous Dysplasia Foundation team to develop a registry to enable healthcare professionals, patients and investors to systematically analyze potential treatments and resulting effectiveness and side effects. She disseminates information and provides support to FD patients and caregivers as administrator of a Facebook group for people with FD and is an active fundraiser, administrator, and lobbyist for the Fibrous Dysplasia Foundation. Carly loves expanding her horizons to learn new information each day for self-improvement and to inspire others.
Tiffany Meyer graduated in 2007 from Fontbonne University in St. Louis with a Bachelor’s of Science degree in dietetics, receiving her Master of Science degree in dietetics from Eastern Illinois University in 2009.
She is currently employed with Washington University School of Medicine in St. Louis.
Tiffany Meyer was diagnosed with McCune-Albright Syndrome with Fibrous Dysplasia at the age of 10 months and has received care from the National Institutes of Health and Shriners Hospital St. Louis since the age of 2. She is extremely grateful for the outstanding medical care she has received throughout her life.
Dr. Mirro is the Chief Academic Research Officer at the Parkview Mirro Center for Research and Innovation. Dr. Mirro is a physician with 40 years of clinical experience and board certified in Internal Medicine, Cardiology, Cardiac Electrophysiology and Geriatric Medicine. He is a current member of the Indiana University Board of Trustees.
He is a past assistant professor of medicine at the University of Iowa were he established a basic and clinical cardiac electrophysiology program. He has 35 years’ experience in clinical research and, since 1990 has served as PI on over 100 clinical trials as the Medical Director of Parkview Research Center. Dr. Mirro has been a leader on a national level in the field of cardiology having served as a member of the Board of Trustees of the American College of Cardiology (ACC) from 2003 to 2009 and having served as the co-chair of the ACC Advocacy Committee from 2002 to 2004.
Dr. Mirro is also a national thought leader in the area of Health Information Technology (HIT) and has served as the Chair of the ACC HIT Committee from 2007 to 2012 and is a current member. Recently, Dr. Mirro testified recently before the Senate HELP committee on “data blocking” representing the ACC. Most recently, Dr. Mirro is a champion for the utilization of technology to accelerate rare disease research.
Kirin Murty works as a management consultant for DataMagnus, a company that provides services in data, databases, analytics and big data. Prior to this he worked as an interim Chief Technology Officer for Mobile Health One.
He has a Bachelor’s Degree in Computer Science and is a graduate of Columbia University’s Executive Master’s program in Technology Management.
Kirin Murty believes in the immense capability that technology can offer in enabling innovation that enhances human care giving. He also believes efficient and intelligent data usage is the common denominator that differentiates better outcomes. Data management is one of his core competencies and he wants to apply his experience and learning to aid data-driven research and service delivery to the FD/MAS registry initiative.
Deanna Portero is a project manager with experience in launching digital initiatives and nonprofit programs. In a previous role with the National Organization with Rare Disorders she led the launch of patient registries for the VHL Alliance and the Foundation for Prader Willi Research. She hopes to assist the Fibrous Dysplasia Foundation by lending digital know-how, project management best practices, and lessons learned from previous registry launches. Deanna is a graduate of Dartmouth College.
Zoe Slutzky is a patient with Fibrous Dysplasia. She graduated from the University of Iowa in 2014 with a Major in Informatics, and minor in Digital Studies.
She currently lives in Chicago and is helping execute the online registry for the Fibrous Dysplasia Foundation, bringing along her technology and human-computer interaction skills.
Zoe Slutzky is eager to lend unique insight into influencing the direction of the research efforts, based on her and the FD community’s needs.
The FDF would like to thank Purdue University, Professor Matthew Murawski PhD and students of the PHAD 69600 – Seminar Course for their assistance in development of the registry questionnaires. Student performed a literature review and identified a helpful conceptual framework that the working group was able to utilize in developing the questionnaires.