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Genetics-Genomics

BioCruces - Plataforma Genética-Genómica.

Research Area: 
Life & Medical Sciences
Location: 

BioCruces Hospital Universitario Cruces. Plaza de Cruces 12, 48903. Barakaldo, Bizkaia (País Vasco)

Contact: 

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

Available for external users?: 
Yes
Access protocol: 

Please check website

Description: 

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) 
Services: 

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:
  • 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.