Page 180 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U758
Medicina Peditrica
y del Desarrollo

Group Members
Lead Researcher

STAFF MEMBERS
Posada De la Paz, Manuel
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Monzn Fernndez, Sara

ASSOCIATED MEMBERS
Contact:
Instituto de Investigación de Enfermedades Raras Abaitua Borda, Ignacio
Alonso Ferreira, Vernica
Instituto de Salud Carlos III.
IIER, pabelln 11. Monforte de Lemos, 5. 28029 Madrid Hens Prez, Manuel Juan
Morales Piga, Antonio
Phone: (+34) 91 822 20 44
E.mail: [email protected] · Website: http://www.isciii.es
Villaverde Hueso, Ana

Main lines of research

• Epidemiology and risk factors in autism: Early diagnosis (screening); ca-

se-cohort studies; case-control studies.

• Epidemiology and risk factors in connective tissue diseases and autoim-
mune diseases: Risk factor analysis; search for drugs; quality of life;

registry; costs.

• General epidemiology of rare diseases: Rare disease registry; health

costs; quality of life.

• Progressive spastic paraplegia and ataxias.
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• National Rare Disease Registry (SpainRDR).
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R
• National Rare Disease Biobank (BioNER).
PO
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• National germ line mutations database (SpainMDB).
L R
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• Development of computer workflows for the analysis and interpretation of NU
data generated by massive sequencing.
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A
• Identification of microRNAs involved in regulating genes causing rare di- /
ER
seases by means of high-throughput assays with microRNA libraries.
ER
B
• Genetics of retinoblastoma. CI

• Molecular and cellular biology of rare childhood tumors (sarcomas).
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