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Investigación fundacional,
Pilar de la Innovación tecnológica
Fernando López-Díaz, Ph.D., CBL.
Staff Scientist, The Salk Institute for Biological Studies, La Jolla, USA
Adjunct Professor Master in Advanced Therapies, UFV, Madrid, SPAIN
Molecular Tumor Board, UCSD Moores Cancer Center, La Jolla, USA
Intellectics Inc. San Diego, USA ; CEPIMP Genomics SA, ARGENTINA
* 
3
* 
$$$
4
* 
Medicina Genómica
Estrategias genómicas rutinarias en la oncología clínica
>20-40%	
	tumor	
Tumor	
Biopsy	
1.	DNA/RNA	Sequencing	
2.	Análisis	cien<fico,		y		
Clínico	y	curación	de	datos	
(literatura	pre-clinica	y	
clinica)	
*Isopado	Bucal	
(linea	germinal)	
Molecular/NGS	Tumor	
Board	
Entrega	de	
Resultados	
Consejero		
GenéOco	
1) 	Accionable	
2) 	VUS	
3) 	Incidental	
UC San Diego School of Medicine Moores Cancer Center/John Hopknis Medical Institute/Cepimp Genomics
Biopsia		Líquida:	
Sangre,	*orina
1. Guia terapéutica
2. Investigación aplicada
y clinica -Clinical Trial n=1
3. Drug Discovery.
4. Vigilancia genómica
Pathways
Analysis
Incidence
A novel ESR1 mutation from a
metastatic prostate carcinoma
tumor
Structure Analysis
La	retroalimentación		del	conocimiento	en	biomedicina	:			
Clinical	PracOce	and	Biomedical	Research		
Target
validation
Drug
discovery
Clinical
trials
Clinical
Practice
Target
discovery
7
8
DNA
damage
Apoptosis
Pre-malignant cells Primary tumor
>Mutations
& selection
Early dissemination
Late
dissemination
Blood
vessels
Metastase
s
Normal
cells
Cancer Development, Progression and Cellular Stress
Adapted from Klein C., Science
2008
development progression
10
2013Target Discovery:
Technology Dev. & Concept Discovery:
Cancer evolution and Drug Resistance
2014
2013: Target discovery: Control of the stress response in
precancerous and cancer cells
2016: using CRISPR technology to produce a assay platform for
new compounds screen
* 
2014: SINGLE –CELL RNA SEQUENCING:
SELECTIVE / ADAPTIVE EVOLUTION OF CANCER CELL POPULATIONS FOUND IN RNA
Pre-tratamiento Final del tratamiento Post tratamiento
Chemotherapy Drug holiday
time
#ofSNVs/gene
expression
complexity
cancer cell population
RNA heterogeneity
Lopez-Diaz*, Lee* et al.
Proc. Natl Acad of Sciences
2014
NEXT: SNP DETECTION IN RNA PLATFORM TO DESIGN NOVEL CONCEPT DRUG SCREENS
S a l k I n s t i t u t e
San Diego - USA
N a t i o n a l
U n i v e r s i t y
o f L i t o r a l
Santa Fe - Argentina
Muchas gracias!
Thanks!
Contact:
lopezdiaz@salk.edu
flopezdiaz@cepimp.com
www.salk.edu www.cepimp.com

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Investigación fundacional, innovación tecnológica