TY - JOUR
T1 - Management of genetic diseases
T2 - Present and future
AU - Abarca-Barriga, Hugo Hernán
AU - Trubnykova, Milana
AU - del Carmen Castro-Mujica, María
N1 - Publisher Copyright:
© Article published by the Magazine of the Faculty of Human Medicine of the Ricardo Palma University. It is an open access article, distributed under the terms of the Creative Commons License: Creative Commons Attribution 4.0 International, CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/), that allows non-commercial use, distribution and reproduction in any medium, provided that the original work is duly cited. For commercial use, please contact [email protected]
PY - 2021/4
Y1 - 2021/4
N2 - Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopathological, and hence to recognize those target points susceptible to modifications, through therapeutical strategies different with palliative proposals, increase life expectancy, or improve qualities of life. These therapies are diverse, using drugs for polygenic diseases, nutritional therapy, special formulas, enzyme replacement therapies, hematopoietic stem cell transplant, substrate reduction, oligonucleotides, and gene therapy. These genetic diseases are heterogeneous clinically with a very low frequency; nevertheless, open to the possibility of research in new strategies for more genetic disease, that today, furthermore, are orphans.
AB - Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopathological, and hence to recognize those target points susceptible to modifications, through therapeutical strategies different with palliative proposals, increase life expectancy, or improve qualities of life. These therapies are diverse, using drugs for polygenic diseases, nutritional therapy, special formulas, enzyme replacement therapies, hematopoietic stem cell transplant, substrate reduction, oligonucleotides, and gene therapy. These genetic diseases are heterogeneous clinically with a very low frequency; nevertheless, open to the possibility of research in new strategies for more genetic disease, that today, furthermore, are orphans.
KW - Genetic Therapy
KW - Genetic diseases
KW - Hematopoietic Stem Cells
KW - Therapy (source: MeSH NLM)
KW - Transplant
UR - http://www.scopus.com/inward/record.url?scp=85171740182&partnerID=8YFLogxK
U2 - 10.25176/RFMH.V21I2.3626
DO - 10.25176/RFMH.V21I2.3626
M3 - Artículo de revisión
AN - SCOPUS:85171740182
SN - 1814-5469
VL - 21
SP - 399
EP - 416
JO - Revista de la Facultad de Medicina Humana
JF - Revista de la Facultad de Medicina Humana
IS - 2
ER -
