WHY DOES IT TAKE SO LONG TO DIAGNOSE CDG

1
DIAGNOSIS AND UPDATE ON CDG
WHAT IS INVOLVED IN CDG DIAGNOSIS?
WHATS A CDG TYPE AND WHY DOES IT MATTER ?
WHY DOES IT TAKE SO LONG TO DIAGNOSE CDG?
WILL WE FIND MORE CASES AND MORE TYPES OF CDG?
WHATS NEXT?
2
INTRODUCTION
The following slides were included in my
presentation at the CDG Family Network Meeting in
Indianapolis, July 2005. I try to provide
up-to-date information on CDG, describe what
types of CDG means and give some impression of
why it can take so long to identify a type.
Typing is important to families, physicians and
scientists alike for different reasons. In the
end, we trust that understanding types, their
causes and effects, will enable the intertwined
scientific-medical communities to provide the
best service and information to families now and
in the future. Scientific research depends on
having you, the informed and educated families,
be our advocates and stress the importance of
research. Just think if we would had stopped
working on CDG in 1995 when the first cause was
really identified. We thank you for your help in
staging walkathons and other fund-raisers and by
helping us in CDG clinical studies. Were all
here to help each other. I hope this little show
helps you understand what we do, and know you are
not alone in the joys and struggles of CDG. --Dr.
Hud Freeze, The Burnham Institute. La Jolla, CA
3
The Dynamic and Vital Interplay
Medical Practice
Basic Science
Families
4
WHAT WE WANT
PARENTS Best care for your children with CDG
PHYSICIANS Provide the best and most informed
care
SCIENTISTS Solve problems, find new connections
to disease Maybe directly help patients
5
GLYCOSYLATION DEFECTS IDENTIFIED
More defects being found all the time
25
25
20
20
Muscular Dystrophy
O-linked Disorders
15
15
Number of defects
10
10
5
5
80- 93
99
04
05
Year
6
Isoelectric focusing of transferrin
Sialic acids
missing chains
7
NEW APPROACH--DIAGNOSIS BY MASS SPECTROMETRY
normal
8
(No Transcript)
9
Transporters
Sugars
Fucose
UDP-GlcNAc
Neu5Ac
GDP-Fuc
Glucose
N-acetylglucosamine
UDP-Gal
/-
/-
/-
Mannose
Galactose
CMP-Neu5Ac
1-3 UDP-
1-3 UDP-
PAPS
1-3 CMP-
N
N
N
N
CDG-IIc
CDG-IId
CDG-IIa
S
X
OR
CDG-IIf
PAPS
GDP-
UDP-
CMP-
UDP-
UDP-
N
N
N
N
N
N
N
N
N
GDP-
UDP-
PAPS
UDP-
UDP-
CMP-
10
IN THE CLINIC
CDG Patient
Clinical Features
Transferrin Analysis
Possible defects
Sequence DNA
11
WHERE DO WE GO FROM HERE?
INFANT SCREEING IS LIKELY IN THE FUTURE--gt MANY
MORE CDG CASES WILL BE FOUND
OUR LAB IS WORKING ON A SHORTCUT FOR TYPING
TREATMENT IS FAR BEHIND DIAGNOSIS