Genetics-Genomics

Infraestructuras
Áreas de investigación
  • Life & Medical Sciences
Contacto

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

¿Disponible para usuarios externos?
Yes
Protocolo de acceso

Please check website

Descripción

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) 
Servicios

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.
Localización

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