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Wednesday, October 12
10:30
AM
–12:30
PM
Concurrent Invited Session I (4-9)
SESSION 7 – Recent Genetic Advances in Motor
Neuron Diseases: Promises and Hurdles to Clinical
Interventions
Room 520, Level 5, Convention Center
Moderators:
Lisa L. Baumbach-Reardon, Miller Sch. of
Med., Univ of Miami Sch. of Med., USA; Vincent
Timmerman, Univ. of Antwerp, Belgium
Over the last 10-15 years, there have been major
advancements in understanding of several classes of
motor neuron diseases. As an increasing number of
disease genes continue to be identified, the molecular
basis of an increasing number of motor neuron
diseases is also clarified. Interestingly, there is
significant phenotypic overlap in some of these
disorders, adding to the complexity of genetic
diagnosis for these diseases. More importantly,
common disease pathways are being identified, which
suggest that similar therapeutic approaches may be
applicable to certain disorders. In this session, an
international panel of experts will discuss advances in
clinical diagnoses, genetic testing, genetic counseling
and pathophysiology of several related motor neuron
diseases, as well as current and potential therapeutic
approaches for clinical trials. Time will be allowed for
audience participation.
10:30
AM
Introduction.
L. L. Baumbach-Reardon.
Miller Sch. of Med., Univ of Miami Sch. of Med., USA.
10:35
AM
Genetics, pathophysiology and
therapeutic developments in SMA.
A. Burghes. The
Ohio State Univ., USA.
11:00
AM
Clinical and genetic update of spinal
muscular atrophies.
L. L. Baumbach-Reardon. Miller
Sch. of Med., Univ of Miami Sch. of Med., USA.
11:25
AM
Update in CMT, distal SMA and
overlapping phenotypes.
V. Timmerman. Univ. of
Antwerp, Belgium.
11:50
AM
Update in genetics and pathophysiology
of amyotrophic lateral sclerosis: New genes and
new insights.
M. Strong. Schulich Sch. of Med. &
Dent., London, Canada.
12:15
PM
Questions and answers.
V. Timmerman.
Univ. of Antwerp, Belgium.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Wednesday, October 12
10:30
AM
–12:30
PM
Concurrent Invited Session I (4-9)
SESSION 8 – Molecular Basis and Mechanisms of
Recessively Inherited Forms of Osteogenesis
Imperfecta (OI)
Room 517A, Level 5, Convention Center
Moderators:
Peter H. Byers, Univ. of Washington, U
Deborah Krakow, UCLA, USA
To begin the era of understanding the clinical and
genetic heterogeneity of osteogenesis imperfecta,
Sillence proposed that OI be classified into four typ
recessively inherited lethal and severe and progressi
forms and two milder dominant forms. Within a few
years the vast majority of individuals with OI, includi
those with lethal and severe and deforming varieties
were found to be heterozygous for mutations in typ
collagen genes. Apparently recessive forms were
explained by parental mosaicism for dominant
mutations. And yet consanguinity was found in som
families in which no mutations could be identified, a
some sibships failed to yield mutations. In the last f
years recessive mutations in genes involved in the
collagen processing pathway were found in individu
with OI. While alterations in the amount and structur
of type I procollagen made by cells from affected
individuals were the expected biochemical phenotyp
mutations in genes that encoded some proteins alo
the secretory and processing pathway, notably
SERPINH1 and FKBP10, were found in individuals
whose cells made apparently normal molecules. The
findings predicted that the analysis of such families
could identify the “least” change that gave rise to OI
and create targets for more effective therapeutic
intervention. Six genes have been identified in which
mutations give rise to recessively inherited OI and
further search will provide more. The ways these
findings change the clinical understanding of OI, alt
approaches to diagnosis, and provide the potential f
new insights into mechanisms and treatment pathw
are the subject of this workshop.
10:30
AM
Introduction.
P. H. Byers. Univ. of
Washington, USA.
10:40
AM
Molecular basis of OI that results from
mutations in
CRTAP
,
LEPRE1
, and
PPIB
.
G. Pals.
Med. Ctr., Amsterdam, Netherlands.
11:00
AM
Inactivating mutation in
SERPINH1
,
which encodes the collagen chaperone
HSP47
,
result in severe OI.
P. H. Byers. Univ. of Washingto
USA.
11:20
AM
The broad phenotype spectrum of
mutations in
FKBP10
--mild OI, scoliosis,
contractures.
D. Krakow. UCLA, USA.
11:40
AM
Implications of mutations that result in
recessive forms of OI for treatment of all forms o
OI.
F. Glorieux. Shriners Hosp. for Children, Montrea
Canada.