what-when-how
In Depth Tutorials and Information
Introductio
n to Osteogenesis
Imperfecta
Jay R. Shapiro
1
, Peter Byers
2
, Francis Glorieux
3
and Paul Sponsellor
4
1
Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA,
2
School of Medicine, University of Washington, Washington DC, USA,
3
Shriner's Hospital and Department of Pediatrics, McGill University, Montreal, Canada,
4
Johns Hopkins School of Medicine, Baltimore, MD, USA
In 1983,
The Brittle Bone Syndrome, Osteogenesis
Imperfecta
, authored by Roger Smith, Martin Francis and
Gregory Houghton, was published by Butterworths &
Co. Ltd Faculty at the Nuffield Orthopaedic Centre,
Oxford, UK. These authors assembled all the available
information about osteogenesis imperfecta (OI) in a text
of 214 pages. To quote from their Preface, “this topic
describes the rare and heterogeneous group of heritable
disorders known as fragilitas ossium or osteogenesis
imperfecta.” In that text, abnormal collagen biochemis-
try is presented as the “suggested” primary abnormal-
ity in the disorder. The word “gene” is not listed. There
is no reference to bone density measurements, only
three pages are devoted to treatments and the words
stem cell and MRI are not to be found.
The editors propose that current advances in the
science and clinical understanding of OI mandate
that it is appropriate to complement the initial effort
of Smith et al. with a modern text that brings together
all the information that has been developed by count-
less researchers and clinicians over the past 29 years.
Illustrative of that is the recent expansion of the defini-
tion of OI based on new genetic data. The discovery of
mutations affecting multiple genes involved in intracel-
lular collagen processing and their relation to recessive
inheritance explains issues that, to date, have defied
understanding. The availability of treatment for certain
OI types have provided impetus to the discovery and
application of yet newer and more novel treatments.
Titled
Osteogenesis Imperfecta: A Translational Approach
to Brittle Bone Disease
we intentionally describe the
approach as “translational,” meaning from the labora-
tory to the clinic. Each author was asked to integrate
basic science and clinical practice as well as to provide
their estimate as to future research and the relevance of
that to the treatment and care of individuals with OI. As
editors, we submit that this objective has been achieved.
The authors, each a recognized expert in their respec-
tive fields, have surveyed the established data and have
brought new information to their presentations.
The information contained in this topic will sat-
isfy the need of the basic scientist and the clinician. It
should be noted that specific sections may cover nar-
row topics such as a recently described gene involving
only a few reported cases, while other chapters discuss
broad aspects of the clinical disorder. Here, the edito-
rial objective was to include as many OI-related topics
as space permits, because at this time of near scientific
explosion, drawing a boundary line might miss what
will be important in the near future.
The editors express their appreciation to each of the
authors who have contributed their scientific experi-
ence and insight to the production of this topic. The
editors also express sincere appreciation to the staff of
Elsevier, in particular, Ms. Mara Connors and Megan
Wickline, who have provided counsel and guidance at
each stage of production.