Congenital malformations and genetic diseases
What is the role of biobanks?
Biobanks (also known as biological resource centers) are entities responsible for the management of human biological samples specimen and their associated data. These structures can collect and preserve birth defects biological samples in the form of samples inventory.
Congenital malformations and anomalies or birth defects develop before birth, during the zygote phase or during the process of embryogenesis. They are functional or structural defects of the body present from birth.
These pathologies may be of genetic origin. They may also be caused by poisoning in pregnancy by alcohol, ionizing radiations or certain pesticides and herbicides (agent orange). In addition, malformations may be the consequence of poor nutrition or infection by pathogens.
Heart defects, neural tube defects and Down syndrome are the most common and severe pathologies.
Biobanks store and collect biological samples from patients with congenital malformations and anomalies. Some of them are made available for research: nucleic acid extractions, tissue and organ blocks, blood and its derivatives, etc.
What are the advantages of using a biobank for congenital anomaly sample needs?
Setting up a biological collection and preparing samples for a clinical project
Save time in the experimentation phase
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Setting up a collection of biological samples
After a biopsy, or other procedure to retrieve a human sample, a sample may be retained, with the patient's consent, for research purposes.
Storage of clinical samples
The samples, after collection, must be stored under certain conditions, depending on their type and shelf life, to allow for their viability.