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Here you will find some of the latest news and events of interest in genetics and related to the Institute of Human Genetics (IGH). 

NEWS

The illusion of a country in a doctor

The illusion of a country in a doctor Publicado en: mié, 14 nov 2018 15:19:00 -0500
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In the Institute of Human Genetics, of the Faculty of Medicine of the Javeriana, is training the doctor who will be the third medical geneticist of Costa Rica, and that it will help its inhabitants to access the first State program of in vitro fertilization of the Central American country. * Andrés Mauricio Ramírez Galindo

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Latino American School of Human and Medical Genetics (ELAG) 2018

Latino American School of Human and Medical Genetics (ELAG) 2018 Publicado en: vie, 25 may 2018 09:26:00 -0500
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Latino American School of Human and Medical Genetics (ELAG) 2018

Dr. Ignacio Zarante Montoya, MD PhD, speaker at the XIV course of the Latin American School of Human and medical genetics, Caxias do Sul, Brazil 2018

 

 


Emilse: acromegaly

Emilse: acromegaly Publicado en: vie, 25 may 2018 09:29:00 -0500
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For 10 years, Emilse Soto dealt with joint pain, in the head, carpal tunnel syndrome in both hands, tachycardia and fatigue without a known cause. Not to mention the physical changes that caused the pathology that affected her. In short, he says he lived a full decade of struggle against the impotence of not knowing.

 


Cristian: Fabry's disease

Cristian: Fabry's disease Publicado en: vie, 25 may 2018 09:33:00 -0500
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Cristian Rocha learned to live with pain. He incorporated it into his life, as if it were a limb, for more than a decade. For 11 years he had to endure an unexplained tingle in his legs and a deep burning after exercising or being in hot places. And at that time, moreover, he discovered how it felt to love with impotence and hopelessness on account of multiple examinations, unsuccessful,  to explain the origin of his ailment.

He says that in 2012 he got tired of what he calls the vicious cycle of bad diagnosis, by which he was told many times that his condition was arthritis.  Searching the Internet for the symptoms, he managed to find a clue of what happened to him. With genetic tests, he was confirmed to have Fabry's disease, a genetically hereditary disease that affects lysosomal storage. It is estimated that one in 40,000 men have it, and in Colombia at least 26 people.

Today he is 25 years old, has just returned from Venezuela, where he lived a great part of this disease, and receives treatment every 15 days helping him to improve and alleviate the symptoms of the disease. Pain will always accompany him. However, he emphasizes that the greatest relief  was to put an end to uncertainty.


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