{"id":217,"date":"2021-02-10T06:33:41","date_gmt":"2021-02-10T06:33:41","guid":{"rendered":"http:\/\/liigh.unam.mx\/cgonzagaj\/?page_id=217"},"modified":"2022-03-17T06:04:43","modified_gmt":"2022-03-17T06:04:43","slug":"projects","status":"publish","type":"page","link":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/projects\/","title":{"rendered":"Projects | Proyectos"},"content":{"rendered":"\n
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Rare Diseases in Mexico<\/h2>\n\n\n\n

In Mexico, a rare disease is defined as a disorder that affects less than 5 people in 10,000. While individually uncommon, as a group rare diseases impact the life of about 7% of the world population. There are about 10 million people living with a rare disorder in Mexico and approximately 350 million worldwide. Most of these diseases have a genetic component.<\/p>\n\n\n\n

We are applying genomic technologies and approaches to identify the causes of rare genetic disorders in patients with undiagnosed and clinically but not molecularly defined genetic disorders. Identifying the variants and genes responsible for these conditions is the first step to understand the disease, inform treatment options and provide counseling information for the patients and their families.<\/p>\n\n\n\n

In order to facilitate the access to genomic approaches to patients with rare diseases across Mexico, we have established the Mexican Rare Diseases Network (Red Mexicana de Enfermedades Raras (ReMexER<\/a>)). A collaborative of clinicians and researchers tending to patients with rare diseases in Mexico.<\/p>\n<\/div>\n\n\n\n

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Enfermedades Raras en M\u00e9xico<\/h2>\n\n\n\n

Las enfermedades raras en M\u00e9xico se definen como aquellas que afectan a menos de 5 personas en 10,000 individuos. Aunque individualmente estas enfermedades son poco comunes, en conjunto se estima que impactan la vida de aproximadamente el 7% de la poblaci\u00f3n mundial. En M\u00e9xico se estima que hay cerca de 10 millones de pacientes que viven con una enfermedad rara; en el mundo se calcula que \u00e9stas afectan a aproximadamente 350 millones de personas.<\/p>\n\n\n\n

En nuestro laboratorio utilizamos tecnolog\u00edas y m\u00e9todos gen\u00f3micos, tales como la secuenciaci\u00f3n de exomas y genomas, para identificar y estudiar las causas de enfermedades gen\u00e9ticas en pacientes que no cuentan con un diagn\u00f3stico o que tienen un diagn\u00f3stico cl\u00ednico pero no molecular. La identificaci\u00f3n de variantes y genes responsables de estos des\u00f3rdenes es el primer paso para comprender mejor la enfermedad, tomar decisiones informadas sobre opciones de tratamiento y proveer consejo gen\u00e9tico a los pacientes y sus familias.<\/p>\n\n\n\n

Con el objetivo de facilitar el acceso a abordajes gen\u00f3micos para el diagn\u00f3stico de pacientes con enfermedades raras y la investigaci\u00f3n de \u00e9stas, hemos establecido la Red Mexicana de Enfermedades Raras (ReMexER<\/a>), una red de colaboraci\u00f3n nacional de investigadores y genetistas cl\u00ednicos que atienden a pacientes con estas enfermedades. <\/p>\n<\/div>\n<\/div>\n\n\n\n

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Mendelian Disease Architecture in Mexican Populations<\/h2>\n\n\n\n

The history and demographics of each population determines the spectrum of alleles present in the population, some of which may be associated with genetic disorders. Characterizing the allelic architecture of populations and especially those alleles associated with diseases can help understand the prevalence of genetic conditions in the population and develop screening approaches to identify individuals at risk before they present with disease effectively enabling the implementation of precision health.<\/p>\n\n\n\n

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Arquitectura de Enfermedades Mendelianas en Poblaciones Mexicanas<\/h2>\n\n\n\n

La historia y la demograf\u00eda es diferente en cada poblaci\u00f3n y determinan el espectro de alelos que podemos encontrar en los individuos de una poblaci\u00f3n determinada. La caracterizaci\u00f3n de la arquitectura al\u00e9lica de diferentes poblaciones, en especial de aquellos alelos asociados a enfermedades gen\u00e9ticas permite evaluar y entender la prevalencia de estas enfermedades en la poblaci\u00f3n, as\u00ed como desarrollar m\u00e9todos que faciliten la identificaci\u00f3n de individuos en riesgo de presentar una enfermedad antes de que \u00e9sta se manifeste cl\u00ednicamente, permitiendo la implementaci\u00f3n de la salud de precisi\u00f3n. <\/p>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n

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Human genome architecture and its contribution to disease<\/h2>\n\n\n\n

The history and evolution of the human species have shaped the architecture of the human genome leaving repeated sequences and a variety of structural elements behind, many of which under certain circumstances can be involved in the generation of genomic rearrangements, some of which may lead to diseases. Through bioinformatic analyses, we study the features of repeated sequences across the human genome to understand the characteristics that make them more likely to produce rearrangements and structural variants. <\/p>\n\n\n\n

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Arquitectura del Genoma Humano y su contribuci\u00f3n a enfermedades<\/h2>\n\n\n\n

La historia y la evoluci\u00f3n de la especie humana han dejado su huella en el genoma humano mediante sequencias repetidas y elementos estructurales que en ciertas condiciones pueden producir rearreglos gen\u00f3micos, algunos de los cuales pueden causar des\u00f3rdenes gen\u00e9ticos. Mediante an\u00e1lisis bioinform\u00e1ticos estudiamos las caracter\u00edsticas de secuencias repetidas en el genoma humano que pueden dar lugar a rearreglos gen\u00f3micos y variantes estructurales.<\/p>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n

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<\/p>\n","protected":false},"excerpt":{"rendered":"

Rare Diseases in Mexico In Mexico, a rare disease is defined as a disorder that affects less than 5 people in 10,000. While individually uncommon, as a group rare diseases impact the life of about 7% of the world population. There are about 10 million people living with a rare disorder in Mexico and approximately …<\/p>\n","protected":false},"author":1,"featured_media":396,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"_links":{"self":[{"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/pages\/217"}],"collection":[{"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/comments?post=217"}],"version-history":[{"count":9,"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/pages\/217\/revisions"}],"predecessor-version":[{"id":480,"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/pages\/217\/revisions\/480"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/media\/396"}],"wp:attachment":[{"href":"https:\/\/liigh.unam.mx\/cgonzagaj\/index.php\/wp-json\/wp\/v2\/media?parent=217"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}