Page 16 - MemoriaER-Eng

SCIENTIFIC PROGRAMMES

Inherited Metabolic Medicine

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Inherited Metabolic Medicine Programme: consisting of 12 research groups from
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different fields, including clinical genetics, molecular genetics and molecular and cell é
physiology.

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• Inherited metabolic diseases: lysosomal diseases, organic acidemias, glycosylation
Rare Diseases á
defects, peroxisomal diseases.
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Studied

Objectives
To study RD having the fundamental aspect of altering homeostasis caused by muta- á

tions in genes relating to intermediary metabolism.
The programme specifically seeks to define the genetic cause and the physiopathology é

of these pathologies affecting biomolecule synthesis, metabolism, transport and sto-

rage. They are generally serious diseases involving multiple organs and in many cases
reducing the life expectancy and quality of life of patients.

Based on the definition and in depth knowledge about these clinical phenotypes, in

addition to evaluating the clinical response to treatments available today, the pro-

gramme is working on Innovative Therapies, such as the use of chaperones to aid in
enzyme functionality.

Scientific Coordinator: Dr. Antonia Ribes, U737.
Groups
• Dr. Rafael Artuch, U703.
forming
• Dr. Daniel Grinberg, U720.
the RP
• Dr. Virginia Nunes, U730.

• Dr. Manuel Palacn, U731.

• Dr. Vicente Rubio Zamora, U739.
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• Dr. Eduardo Salido, U740. 20
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• Dr. Francisca Snchez Jimnez, U741. R
PO
• Dr. Beln Prez Gonzlez, U746. E
L R
• Dr. Ral Estvez Povedano, U750. A
NU
• Dr. Pilar Giraldo Castellano, U752. N
A
• Dr. Aurora Pujol Onofre, U759. /
ER
• Mnica Bescs, RP Scientific Manager.
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B
CI

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