- Life & Medical Sciences
Dra. Ana Belén de la Hoz Rastrollo Gustavo Perez de Nanclares (0034) 94 600 6000 - Ext 7280 anabelen.hozdelarastrollo@osakidetza.net gustavo.perezdenanclaresleal@osakidetza.net
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Last years' research has shown that deciphering the genome was not the last step in the way. There is an estimation of about 20,000-24,000 human protein-coding genes, but several other points are raising importance: interactions in the genome (ncRNA, miRNA…), dynamic changes in DNA, methylation, interactions with the environment (intra- and extracellular, intra- and extra-organism). All these elements are studied by Genomics, which cannot be separated from Genetics anymore.
The Genetics-Genomics Facility at Biocruces Bizkaia Institute was thus created not only to study previous well-known genetic techniques (search for new genes or markers, mutation testing in patients, verification of new findings), but also, and in an important way as it is part of a Research Institute, to support innovating research in Genomics and its derivative Sciences: Epigenetics, Pharmacogenetics and all their applicability.
Nowadays, the Genetics-Genomics Facility provides the following equipment:
- ABI3130 and ABI3130xl Genetic Analyzers (Life Technologies)
- Quantitative Real Time PCR systems: 7300 and 7900HT Fast (LifeTechnologies)
- SureScan Microarray Scanner (Agilent Technologies)
- IonTorrent PGM (Life Technologies)
- QX200 Droplet Digital PCR System (BioRad)
- 2100 Bioanalyzer (Agilent)
- Qubit 2.0 Fluorimeter (Thermofisher)
General Services
- Nucleic acid extraction and purification. Quantifying and preparation for subsequent studies.
- PCR amplification of any requested amplicon.
- Point mutation testing:
- Sanger sequencing of DNA fragments (ABI3130 and ABI3130xl [Life Technologies] genetic Analyzers). EMQN certificate. Cert. 2017 - Cert. 2016 - Cert. 2015
- Next Generation Sequencing. Gene panel design, preparation of libraries, capturing and sequencing. (Ion Torrent PGM-Life Tecnologies). Cert. 2017 - Cert. 2016 -
- Copy Number Variation determination:
- CGH arrays (SureScan Microarrays Scanner). Cert. 2017- Cert. 2016 - Cert. 2015
- FISH –Fluorescent ‘in situ' hybridization –.
- Quantitative PCR (qPCR).
- Gene expression studies.
- Gene Expression Microarrays (SureScan Microarrays Scanner).
- qRT-PCR. (7300 and 7900HT PCR Real Time Systems -Applied Biosystems-).
- Nucleic acid and protein simultaneous detection: (FICTION technique: FISH and immunofluorescence staining).
Hereditary Cancer
- Multiple Endocrine Neoplasia Type 1 (MEN1).
- Multiple Endocrine Neoplasia Type 2 (MEN2).
- Medullary thyroid cancer (MTC). Cert. 2017 - Cert. 2016 -Cert. 2015
- Pheochromocytoma/Paraganglioma (RET).
- Thyroid adenoma.
- Wilms' Tumor.
Imprinting Diseases
- Uniparental Disomy chr6.
- 6q Methylation.
- 6q Duplication.
- Uniparental Disomy chr20.
- 20q13 Methylation.
Endocrinology
- Monogenic Diabetes and Insulin Resistance. Cert. 2017 -Cert. 2016 - Cert. 2015
- Neurogenic diabetes insipidus and nephrogenic diabetes insipidus.
- Mitochondrial Diabetes.
- Gonadal dysgenesis and hypogonadism.
- Pseudohermaphroditism.
- Other Disorders of Sex Development.
- Congenital Adrenal Hypoplasia.
- Panhypopituitarism.
- Benign Hereditary Chorea.
- Thyroid Hormone Resistance.
- Allan-Herndon-Dudley Syndrome.
- Hypothyroidism.
- Pseudohypoparathyroidism.
- Septo-optic dysplasia.
- Hypercalciuric Hypocalcemia.
- Type I Polyglandular Autoimmune Syndrome.
- Glucocorticoid Resistance.
Other Studies
- Hyperferritinemia-cataract syndrome.
- Type III Bartter Syndrome.
- Branchio-Oto-renal Syndrome.
BioCruces Hospital Universitario Cruces. Plaza de Cruces 12, 48903. Barakaldo, Bizkaia (País Vasco)
