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Carmen Ayuso in genetics



The Genetic Service of the Jiménez Díaz Foundation accepts patients from all over Spain with ocular pathologies and has diagnosed over 4,000 cases of retinal dystrophy. About 15% of eye diseases have a genetic component. This is a case of macular degeneration, glaucoma, retinal dystrophy and other more rare cases, such as retinitis pigmentosa. Dr. Carmen Ayuso, head of the FJD Genetics Department, tells me that genetics is revolutionizing current medicine.

One of the services they perform is preimplantation diagnosis (PGD). It is a technique thanks to which we can prevent inheritance by our offspring of diseases of genetic origin that cause birth defects, intellectual, sensory or motor impairment, and which are currently not treated.

The criteria for the establishment of DGP Dr Ana Bustamante, substitute for the genetic service of this hospital center, is; that it is a serious illness, that it has an early onset and that there is no cure today. "It may happen that there is one of three requirements and it is not clear whether it actually meets or not, then the matter is assessed by the National Assisted Reproduction Commission," says expert Jiménez Díaz Foundation.

I am asking Dr. Ayuso for cancer, because it is a multifactorial pathology caused by genetic and environmental factors. In fact, some such as breasts, ovaries and large intestines have obvious genetic predispositions. "There are cancers that occur because a mutation occurs in the cell of this tissue and the person did not have it from birth, so it will not be passed on to his family." There is also a percentage of cases caused by family predispositions and that's where we focus most when we recognize this the reason, we pass the risk to the patient that other people in his family can have it and give it to specialist observation – says Dr. Ayuso.

In this genetic test, we start with the simplest one. As Dr. Fiona Blanco Kelly, Associate Physician of Genetics of FJD notes, "when a patient arrives with a known mutation, we simply examine this mutation to determine if he inherited it or not." We do it when the patient arrives with cancer. using a targeted panel of genes that investigate those that predispose to their type of cancer, look at these genes and analyze if there is any change in one of them that is causal or predisposed to cancer, "the specialist concludes.

It is clear that genetics play an important role in the treatment of diseases. Therefore, the work of specialists as a team led by Dr. Ayuso in FJD is of fundamental importance for the consolidation of this medical specialization. This is. Sure


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