Mexican Researcher Participates In International Study on Very Rare Genetic Diseases

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Raul Piña Aguilar, a Mexican researcher who performs his doctorate at the University of Aberdeen in Scotland, is the first non-European scientific recognized by the IBSA Foundation in Switzerland. The recognition was awarded for his doctoral thesis, where he studied germ cell development in mice affected by a genetic disease that generates abnormal sexual differentiation, which prevents reproduction.

With economic recognition, Piña Aguilar extended his research to human cells with the same genetic disease of the rodents, in which he will test a stem cells treatment.

Previously, the Mexican geneticist caught the attention of the scientific world and medical community with a genomic study of a Mexican patient with a complex chromosomal abnormality. After no conventional genetic tool was able to provide an answer, Piña Aguilera’s research allowed him describing and diagnosing the disease.

The project called ‘Developmental Genome Anatomy’, in which Aguilar Piña participates, is led by the School of Medicine at Harvard University, Brigham and Women’s Hospital and the Broad Institute. The latest results were reported at the congress of the American Society of Human Genetics.

The research will change paradigms on what is known about balanced chromosomal alterations, and how doctors will address them in the future, said Piña Aguilar.

When he was a physician and researcher at the National Medical Center ‘20 de Noviembre’ of the Institute for Social Security and Services for State Workers (ISSSTE), the Mexican researcher received an invitation from Harvard University. Since the National Medical Center had performed chromosome studies in a group of patients with the required characteristics, he was invited to participate in an international investigation on very rare genetic diseases.

A five-years-old boy was proposed for the study. He had chromosomal problem that required sequencing his entire genome, but the public institution had no resources to cover the cost.

“It was a very complex genetic damage, in which the chromosomes had significant changes that led to heart, growth and physical (dysmorphology) problems not previously reported in the scientific literature,” he said.

“So this patient underwent a genomics study at Harvard, and he was the first Mexican case; nobody did it before. With the data obtained, it was possible to obtain a diagnosis and cause of why the patient had several problems,” the geneticist added.

Furthermore, Dr. Piña Aguilar recently participated with the European School of Sexual Differentiation Disorders in Italy, where he presented the case of another Mexican child, this time affected in her sex chromosomes, making her infertile.

Dr. Piña Aguilar said that in conference he presented one of his ISSSTE patients: a girl with short stature, whose ovaries were impossible to find. She was diagnosed with Turner syndrome in the first instance. Doing genetic analysis (karyotype), they found an X and a smaller chromosome they could not identified (marker chromosome), and they assume it as a Y chromosome.

“Studies continued and we saw that it is not Turner syndrome as such. There is a development problem of sex chromosomes in which the patient has a uterus but has a Y chromosome, which means an in mosaic sex chromosome abnormality, known as disorder of sexual differentiation 45,X /46,XY; a ‘mixture’ of chromosomes where patients can have a female or male phenotypes, or genital ambiguities,” Mexican scientist said.

The genetic studies determined that the patient has a uterus, but not ovaries or testicles. The patient, now 16, continues to estrogen therapy so she can menstruate and quite possibly may be a candidate for assisted reproduction through egg donation and in vitro fertilization.

Finally, Dr. Piña Aguilar pointed out that the work of geneticists in Mexico is very difficult, mainly because of the high costs involved in these studies. “A molecular study costs between 500 and 3,000 USD. It is very expensive, and we depend on who wants to do an investigation of this kind and has the resources. When it was done, the human genome sequencing project cost more than a billion dollars; now it costs between 4,000 and 10,000 dollars study the genome of a patient.”

IBSA Foundation is a Swiss non-profit organization that promotes and supports scientific research, progress and education in infertility and other areas of medicine.