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La lucha contra las enfermedades raras y huérfanas

STANFORD – Por lo general, las enfermedades raras son ignoradas, simplemente porque son como su nombre lo dice: raras. Sin embargo, en su conjunto afectan a un gran número de personas. En Estados Unidos, las enfermedades raras se definen como aquellas que afectan a menos de 200.000 personas. No obstante, existen más de 6.800 de estas condiciones, y en todo el mundo ellas afectan a cientos de millones de personas. Y, aun así, sólo se disponen de unos 250 tratamientos para hacerles frente.

Una de las razones para esto es que la pequeña cantidad de pacientes dificulta el estudio de dichas enfermedades, así como las pruebas de fármacos. Como resultado, los profesionales médicos con frecuencia saben poco acerca de los síntomas y la biología de dichas enfermedades.

A principios de este año, participé en California en un programa por el Día de las enfermedades raras. El tema fue una colección poco clara, pero grande (más de 70), de enfermedades causadas por un tipo específico de error genético – error que ocurre dentro de la maquinaría de las células cuya labor es unir químicamente azúcares a proteínas y lípidos. 

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