Download UAB Opens First Specialty Clinic in State for Bone Dysplasia and

DIRECTOR'S NOTES
DIRECTOR'S NOTES
CMBD
CENTER FOR METABOLIC BONE DISEASE
The UAB Center for Metabolic Bone Disease (CMBD) currently has an RFA for pilot and feasibility projects.
The UABareCenter
Metabolic
Bone25,
Disease
currently
RFA
for pilot
and feasibility
projects.
Applications
due onforMonday,
January
2010. (CMBD)
The general
focus ishas
on an
bone
biology
and disease.
Both basic
and
Applications
are
due
on
Monday,
January
25,
2010.
The
general
focus
is
on
bone
biology
and
disease.
Both
basic
and
translational research applications are encouraged.
translational
research
applications
are
encouraged.
The 2010 International Conference on the Chemistry and Biology of Mineralized Tissues is scheduled for November
2010
on the
Chemistry
and Biology
Mineralized
Tissues
is scheduled
November
7-12,The
2010
andInternational
will be held Conference
at the Carefree
Resort
in Carefree,
Arizona.ofOne
of our CMBD
members,
Maryfor
MacDougall,
7-12,
2010
and
will
be
held
at
the
Carefree
Resort
in
Carefree,
Arizona.
One
of
our
CMBD
members,
Mary
MacDougall,
PhD, Associate Dean for Research, School of Dentistry, and Director, Institute of Oral Health Research, is on the
PhD,
Associate
Dean for this
Research,
SchoolPlease
of Dentistry,
andMacDougall’s
Director, Institute
of 205-996-5122
Oral Health Research,
is on the
Organizing
Committee
conference.
contact Dr.
office at
if you are interested
Organizing
Committee
for
this
conference.
Please
contact
Dr.
MacDougall’s
office
at
205-996-5122
if
you
are
interested
in obtaining more information about this conference.
in obtaining
more
information
about this
conference.
A scientific
symposium
focused
on bone
biology and disease will be hosted by the CMBD on Wednesday, March 31,
A
scientific
symposium
focused
on
bone
will bespeakers
hosted byare:
the CMBD
on McCauley,
Wednesday,DDS,
MarchPhD,
31,
2010, followed by an external review of thebiology
Center. and
Thedisease
symposium
Laurie K.
2010,
followed
by
an
external
review
of
the
Center.
The
symposium
speakers
are:
Laurie
K.
McCauley,
DDS,
PhD,
University of Michigan; Carlos M. Isales, MD, Medical College of Georgia; Janet Rubin, MD, University of North
University
of Michigan;
Carlos M.MD,
Isales,
MD, Medical
College
of Georgia;
Janet Rubin,
University
of North
Carolina; and
Steven Teitelbaum,
Washington
University
School
of Medicine.
More MD,
detailed
information
will
Carolina;
and
Steven
Teitelbaum,
MD,
Washington
University
School
of
Medicine.
More
detailed
information
will
follow later.
follow
later.
Below is an overview of the newly formed UAB Bone Dysplasia and Connective Tissue Disorder Clinic directed by
Below
is an overview
of the newly
formed
UAB Bone
Dysplasia and Connective Tissue Disorder Clinic directed by
Maria
Descartes,
M.D., Associate
Professor,
Department
of Genetics.
Maria Descartes, M.D.,
Associate
Professor,
Department
of
Genetics.
Jay M. McDonald, M.D., Director, Center for Metabolic Bone Disease
Jay M. McDonald,
M.D., Director,
for Metabolic
Bone Disease
Email:
[email protected];
Office:Center
205-934-6666;
Website:
http://cmbd.path.uab.edu
Email: [email protected]; Office: 205-934-6666; Website: http://cmbd.path.uab.edu
UAB OPENS FIRST SPECIALTY CLINIC IN STATE
UABDYSPLASIA
OPENS FIRST
SPECIALTY
CLINIC
IN STATE
FOR BONE
AND
CONNECTIVE
TISSUE
DISORDERS
FOR
BONE
DYSPLASIA
AND
CONNECTIVE
TISSUE
DISORDERS
With a grant from Health Services Foundation General Endowment Fund, UAB opened
the state’s first full service
With
grant from
Foundation
General
Endowment
Fund,
opened
the state’s
first full
clinic
for apatients
with Health
skeletalServices
dysplasias
and related
disorders
throughout
theirUAB
lifespan
including
prenatally.
Thisservice
clinic
clinic
for
patients
with
skeletal
dysplasias
and
related
disorders
throughout
their
lifespan
including
prenatally.
This clinic
provides diagnosis, management, and follow up care for infants, adolescents and adults.
provides
management,
and follow
up ct
care
infants,
adults.
Th e diagnosis,
Bo ne Dys
pl as i a and
Co nne
iv efor Ti
ssu e adolescents
Dis o rd erandClin
ic f o r Ad u lts a n d C h i l d re n
Th e Bo ne Dys pl as i a and Co nne ct iv will
e Ti
Dis o rd er Clin
ic housed
f o r Ad
u lts thea nDepartment
d C h i l d reof
n
(http://www.genetics.uab.edu/bonedysplasiaClinic.html)
bessu
a emultidisciplinary
clinic
within
(http://www.genetics.uab.edu/bonedysplasiaClinic.html)
will be
multidisciplinary
within the
Department are
of
Genetics (http://www.genetics.uab.edu). Initially, the clinic
willa meet
twice a monthclinic
in thehoused
Kaul Building.
Appointments
Genetics from
(http://www.genetics.uab.edu)
Initially,from
the patients.
clinic will meet twice a month in the Kaul Building. Appointments are
accepted
referring physicians or. directly
accepted
referring
directly
from patients.
Bonefrom
dysplasias
arephysicians
a related or
group
of disorders
that affect bone and cartilage resulting in abnormal growth and
Bone dysplasias
a relatedTheir
groupetiology
of disorders
that affect
and cartilageMost
resulting
in abnormal
development
of the are
skeleton.
is complex
and bone
heterogeneous.
of these
disordersgrowth
resultand
in
development
of
the
skeleton.
Their
etiology
is
complex
and
heterogeneous.
Most
of
these
disorders
resulthave
in
disproportionate short stature and other bone deformities that often impact other body systems. Affected individuals
disproportionate
short
stature
and
other
bone
deformities
that
often
impact
other
body
systems.
Affected
individuals
have
a variety of medical and socials concerns that cannot be adequately addressed by a single visit with a primary care
aprovider
variety and/or
of medical
and socials
concerns
cannot be
addressed
by conditions
a single visit
with the
a primary
specialist.
Connective
tissuethat
conditions
are adequately
a more diverse
group of
affecting
amount care
and
provider
and/or
specialist.
Connective
tissue
conditions
are
a
more
diverse
group
of
conditions
affecting
the
amount
function of proteins that support and form organs and tissues in the body. These disorders may be inherited,
suchand
as
function
of proteins
that or
support
form organs
and
tissues insuch
theasbody.
Thesestorage
disorders
may be inherited, such as
Ehlers-Danlos
syndrome,
be partand
of another
genetic
syndrome,
lysosomal
disorders.
Ehlers-Danlos
part ofdysplasias
another genetic
syndrome, such
lysosomal
disorders.
The overallsyndrome,
incidenceor
ofbe
skeletal
is approximately
1 peras4,000
births.storage
However,
the true incidence may be
The
overall
incidence
of
skeletal
dysplasias
is
approximately
1
per
4,000
births.
However,
true incidence
may be
twice as high because many symptoms do not manifest until childhood or even later, when shortthestature,
joint symptoms,
twice
as
high
because
many
symptoms
do
not
manifest
until
childhood
or
even
later,
when
short
stature,
joint
symptoms,
and other complications arise. The prevalence of heritable disorders of connective tissue us approximately 1 in 272 in the
and
other
The prevalence
of heritable
connective
tissue usofapproximately
1 in4,600,000
272 in thea
USA.
As complications
a group these arise.
conditions
are not rare.
With thedisorders
estimatedofcurrent
population
Alabama being
USA.
As
a
group
these
conditions
are
not
rare.
With
the
estimated
current
population
of
Alabama
being
4,600,000
a
conservative estimate of the potential base for this clinic would be above 25,000.
conservative
estimate
of
the
potential
base
for
this
clinic
would
be
above
25,000.
Recognizing the extent of the need of both experts and coordinated care for patient’s skeletal dysplasia and connective
Recognizing
extent
the need
both experts
and here
coordinated
for patient’s
andofconnective
tissue
conditions the
is why
weof
decided
to of
combine
resources
at UABcare
to create
a clinic skeletal
that willdysplasia
be the first
its nature
tissue
conditions
is
why
we
decided
to
combine
resources
here
at
UAB
to
create
a
clinic
that
will
be
the
first
of its nature
in the Southeast, United States. This clinic will focus on providing comprehensive care including education, research
and
in
the Southeast,
United
This clinic
will focus specialists
on providing
comprehensive
including
education, research
coordination
of care.
WeStates.
are working
with numerous
in the
UAB systemcare
to provide
comprehensive
care. and
coordination
care. We in
arelearning
workingmore
with about
numerous
in the UAB
provideplease
comprehensive
care.
If you areofinterested
this specialists
clinic, or would
like tosystem
refer atopatient
call 205-934-9527
or
If [email protected].
you are interested in learning more about this clinic, or would like to refer a patient please call 205-934-9527 or
email
email [email protected].
Maria Del Carmen Descartes, M.D., Associate Professor, Department of Genetics and Director, UAB
MariaDysplasia
Del Carmen
Descartes, M.D.,
Professor, Department of Genetics and Director, UAB
Bone
and Connective
Tissue Associate
Disorder Clinic
Bone Dysplasia
and Connective
Tissue
Disorder Clinic
Email:
[email protected];
Office:
205-934-4973
Email: [email protected]; Office: 205-934-4973
509 LHRB • 701 South 19th Street • Birmingham, AL 35294-0007 • [ 205 ] 934-6666
VOLUME 15 • NUMBER 1 • JANUARY 2010
VOLUME 15
• NUMBER
• JANUARY
2010
VOLUME
15 • NUMBER
1 •1JANUARY
2010