X ADVANCED COURSE ON DIAGNOSIS AND TREATMENT OF

(version 2014-06-03)
X ADVANCED COURSE ON DIAGNOSIS AND TREATMENT OF METABOLIC DISEASES
Porto Alegre – August 3-8, 2014
PROGRAM AT A GLANCE - (Lectures / Practical Sessions / Social Program)
MORNING PROGRAM
8:30-10:00
Sunday
August 3
Monday
August 4
Tuesday
August 5
Wednesday
August 6
Thursday
August 7
Friday
August 8
Clinical Approach
to the Diagnosis of
IEM
Part I Intermediate
Metabolism
G Vockley
Approach to Selected
Problems:
Hyperammonemia & Urea
Cycle Defects
(Diagnosis & Treatment)
G Vockley
Mitochondrial Disorders
and Lactic Acidosis:
Clinical Suspicion,
Laboratory Diagnosis and
Management
G Vockley
Practical Session III
Interview with LSD
patients to discuss
diagnosis and
management
R Giugliani & Faculty
Perspectives for Screening and
Diagnosis of Inborn Errors of
Intermediate Metabolism
G Vockley
Interactive case
discussion
Interactive case
discussion
IEMs with Dismorphic
Features
C Lourenço
Coffee break
(10:00 – 10:30)
Screening for LSDs
R Giugliani
10:30-12:00
OFFICIAL GROUP
PICTURE
Laboratory
Diagnosis of IEM
Part I – Amino
acids, Organic
Acidurias, FAOD
M Wajner/ A
Sitta / C Vargas
Interactive case
discussion
Hypoglicemia
(Diagnosis & Treatment)
C Souza
Disorders of Carbohydrate
Metabolism
T Cox
Therapeutic Approaches
to Lysosomal Disorders
T Cox
Is Gene Therapy for IEM
coming?
G Baldo
Practical Session IV
Interview with IEM
patients to discuss
diagnosis and
management (cont.)
I Schwartz & Faculty
Highlights on Novel Therapies
For Lysosomal Diseases
T Cox
Next Generation Sequencing and
the Diagnosis of IEM
U Matte
Evaluation & Closing Remarks
R Giugliani
Lunch
AFTERNOON & EVENING PROGRAM
14:00-15:30
Sunday
August 3
Monday
August 4
Tuesday
August 5
Clinical Approach
to the Diag of IEM
Part II - Lysosomal
Disorders
T Cox
White Matter Disease
TBD
Interactive case
discussion
Neuroimaging in Metabolic
Diseases
L Vedolin
Lunch
Wednesday
August 6
Thursday
August 7
Practical Session I:
Laboratory Diagnosis of
Intermediate Metabolism
Disorders
C Vargas & A Sitta
Practical Session VI:
Case presentations by
the students, with
discussion and
comments by the faculty
members
C Lourenço & All
Practical Session II
Laboratory Diagnosis of
Lysosomal Disorders
M Burin & K Michelin
& F Timm
Practical Session VI
(cont.):
Case presentations by
the students, with
discussion and
comments by the faculty
members
C Lourenço & All
Coffee break (15:30-16:00)
Laboratory
Diagnosis of IEM
Part II – Lysosomal
Disorders & other
selected metabolic
diseases
M Burin
16:00-17:30
Arrivals
18:30-22:00
Welcome Cocktail
Course introduction
R Giugliani
Opening remarks from the
international invited speakers
Pre-course evaluation
Dinner
Molecular
Diagnosis in IEM
U Matte
Seizures and IEM
J Saute & F Vairo
Porphyrias and
Ferritinopathies
T Cox
Prenatal Diagnosis
MT Sanseverino
20:00 – 23:00
Free evening
Integration Dinner
(Galpão Crioulo)
20:00-23:00
Free evening
Official Dinner
(Venue TBA)
Friday
August 8

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