| Day 1 - Thursday 01-12-2022 |
|
|
| TIME |
LECTURES |
PRACTICE |
TUTOR |
| 08:45
am - 09:00 am |
Journey in molecular diagnosis: The experince of 30 years |
|
Prof Dr. Abdullah Tuli & Lect. PhD Ebru Dündar Yenilmez |
| 09:00
am - 09:30 am |
Introduction to the course & outline of the course |
|
PD Dr. Haselmann |
| 09:30
am - 10:30 am |
From morphology to genetic profile - different diagnostic techniques in hematooncology |
. |
PD Dr. Haselmann |
| 10:45
am - 12:00 am |
Molecular diagnostics in hematooncology: recent advances, classification, therapies based on genetic findings |
. |
Prof. Dr. med. Daniel Nowak |
| 12:00
am - 01:00 pm |
Principles of assay validation and quality assurance: ISO15189, CAP, IFCC-CMD, IVDR |
. |
Prof. Ferreira-Gonzalez |
| 01:00
pm - 02:00 pm |
LUNCH BREAK |
|
| 02:00
pm - 04:00 pm |
Principle Validation of qualitative genetic tests |
. |
Prof. Ferreira-Gonzalez |
|
|
Raw data, establish QC parameters for qPCR (allelic discrimination) Factor V & JAK2 (showing difference between germline and somatic) |
Prof. Ferreira-Gonzalez |
| 04:00
pm - 04:30 pm |
COFFEE BREAK |
| 04:30
pm - 05:30 pm |
Molecular diagnostics of hereditary disorders (CF, Hypercholesterinemia, Cardiovascular disorders) -different methodological approaches, pseudogenes/CNV/deletion |
|
Prof. Diez Gibert |
| 05:30
pm - 06:00 pm |
Introduction of homework: Medical reporting for hereditary disorders (nomenclature, annotation, medical reporting) |
HOMEWORK: case report for hereditary disorder -> write a medical report |
PD Dr. Haselmann |
| Day 2 - Friday 02-12-2022 |
|
|
| TIME |
LECTURES |
PRACTICE |
TUTOR |
| 09:00
am - 09:45 am |
Discussion of homework |
|
ALL TUTORS |
| 09:45
am - 10:30 am |
Treatment of cancer patients: different therepeutical options, recent advances (targeted tx, immunocheckpoint), molecular tumor board |
|
PD Dr. Haselmann |
| 10:30
am - 11:15 am |
Principle of NGS, different platforms |
|
PD Dr. Haselmann |
| 11:15
am - 12:00 am |
Data Analysis, QC, Alignment, variant calling, somatic vs. Germline, MTB pipeline/Workflow |
|
PD Dr. Haselmann |
| 12:00
am - 01:00 pm |
Principle Validation of qualitative genetic tests with a focus on NGS data - IVDR |
Students design there own validation strategy |
Prof. Ferreira-Gonzalez |
| 01:00
pm - 02:00 pm |
LUNCH BREAK |
|
| 02:00
pm - 03:00 pm |
Set-up an validation strategy and experimental design for NGS WES |
Students design there own validation strategy |
|
| 03:00
pm - 03:30 pm |
COFFEE BREAK |
| 03:30
pm - 05:30 pm |
Variant classification including in-silico tools and functional RNA studies |
Raw data, establish QC parameters by examples provided by tutor (students are are performing own validations) |
Prof. Diez Gibert |
| 05:30
pm - 06:00 pm |
In-Silico: annotation of genetic variants & case presentation of MTB patient for homework |
HOMEWORK: case report for tumor board patient -> write a medical report |
PD Dr. Haselmann |
| Day 3 - Saturday 03-12-2022 |
|
|
| TIME |
LECTURES |
PRACTICE |
TUTOR |
| 09:00
am - 09:45 am |
Discussion of homework |
|
ALL TUTORS |
| 09:45
am - 10:30 am |
Clinical application of liquid profiling |
|
PD Dr. Haselmann |
| 10:30
am - 01:00 pm |
Methods used for ctDNA analysis: ddPCR, OncoBEAM, Sequencing cfDNA (1 hour) including preanalytical, analytical and postanalytical aspects |
|
PD Dr. Haselmann |
|
|
Raw data, establish QC parameters by examples provided by tutor (students are are performing own validations) |
PD Dr. Haselmann |
| 01:00
pm - 02:00 pm |
LUNCH BREAK |
|
| 02:00
pm - 02:45 pm |
Clinical application of NIPT (13, 18, 21, e KARYO) |
|
Prof. Ferreira-Gonzalez |
| 02:45
pm - 03:30 pm |
Methods used for NIPT and principle Validation |
|
Prof. Ferreira-Gonzalez |
| 03:30
pm - 04:00 pm |
COFFEE BREAK |
| 04:00
pm - 05:00 pm |
Emerging technologies (Next-generation PCR, Next-next-Seq, Multi-Omics, spatial transcriptomics) |
|
Prof. Ferreira-Gonzalez |
| 05:00
pm - 05:30 pm |
Evaluation |
|
Prof. Ferreira-Gonzalez |
| 05:30
pm - 06:00 pm |
Farewell |
|
PD Dr. Haselmann |
|
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