Nova paradigma u dijagnostici retkih bolesti
Diagnostics of rare diseases new paradigm
Authors
Keckarević Marković, MilicaKecmanović, Miljana
Keckarević, Dušan
Contributors
Pavlović, SonjaBegović, Jelena
Novaković, Ivana
Savić Pavićević, Dušanka
Đorđević, Ana
Book part (Published version)
Metadata
Show full item recordAbstract
Po definiciji, retke bolesti obuhvataju oboljenja čija je učestalost manja od 1 u 2000 u Evropi. Do sada je
identifikovano skoro 7000 retkih bolesti uzrokovanih mutacijama u preko 4000 gena, a na svakih 50 osoba
u Evropi jedna ima retku bolest za koju je pokazano ili se smatra da je genetički uzrokovana.
Objavljivanje preliminarne sekvence humanog genoma 2001. godine, kao i automatizacija reakcija PCR-a i
sekvenciranja, omogućilo je otkrivanje velikog broja gena uzročnika retkih bolesti, kao i uspostavljanje i široku
primenu molekularno - genetičke dijagnostike. Na ovaj način je omogućena dijagnostika bolesti koje su se odlikovale
relativno čestim pojavljivanjem, a koje nisu imale posebno izraženu alelsku ili lokusnu heterogenost.
Razvoj metoda masivnog paralelnog sekvenciranja omogućio je širu dijagnostiku poznatih bolesti, ali se
otvorila i mogućnost da se potraži uzrok za svaku retku bolest, međutim, nakon više od 10 godina masovne
primene, preko 70% bolesti verovatno uzrok...ovanih naslednim faktorima i dalje ima nepoznatu etiologiju.
Rare diseases comprise diseases with a frequency less than 1 in 2000 in Europe. So far, almost 7,000 rare diseases
caused by mutations in over 4,000 genes have been identified, and for every 50 people in Europe, one
has a probably genetically caused rare disease.
The draft sequence of the human genome published in year 2001, as well as the automation of PCR and sequencing
techniques enabled the identification of a large number of genes that cause rare diseases, as well
as the establishment and wide application of molecular-genetic diagnostics. Thus, it was possible to establish
the genetic background of relatively frequent and diseases without significant allelic or locus heterogeneity.
The development of massive parallel sequencing methods has enabled a broader diagnosis of known diseases,
but also enabled scientific community to look for the cause of each rare disease. However, after more
than 10 years, over 70% of probably genetically caused diseases still have an unknown e...tiology.
Keywords:
retke bolesti / dijagnostika / humani genom / sekvenciranje / rare diseases / diagnostics / human genome / sequencingSource:
Trendovi u molekularnoj Biologiji, 2021, 1, 54-59Publisher:
- Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo
Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CHAP AU - Keckarević Marković, Milica AU - Kecmanović, Miljana AU - Keckarević, Dušan PY - 2021 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1671 AB - Po definiciji, retke bolesti obuhvataju oboljenja čija je učestalost manja od 1 u 2000 u Evropi. Do sada je identifikovano skoro 7000 retkih bolesti uzrokovanih mutacijama u preko 4000 gena, a na svakih 50 osoba u Evropi jedna ima retku bolest za koju je pokazano ili se smatra da je genetički uzrokovana. Objavljivanje preliminarne sekvence humanog genoma 2001. godine, kao i automatizacija reakcija PCR-a i sekvenciranja, omogućilo je otkrivanje velikog broja gena uzročnika retkih bolesti, kao i uspostavljanje i široku primenu molekularno - genetičke dijagnostike. Na ovaj način je omogućena dijagnostika bolesti koje su se odlikovale relativno čestim pojavljivanjem, a koje nisu imale posebno izraženu alelsku ili lokusnu heterogenost. Razvoj metoda masivnog paralelnog sekvenciranja omogućio je širu dijagnostiku poznatih bolesti, ali se otvorila i mogućnost da se potraži uzrok za svaku retku bolest, međutim, nakon više od 10 godina masovne primene, preko 70% bolesti verovatno uzrokovanih naslednim faktorima i dalje ima nepoznatu etiologiju. AB - Rare diseases comprise diseases with a frequency less than 1 in 2000 in Europe. So far, almost 7,000 rare diseases caused by mutations in over 4,000 genes have been identified, and for every 50 people in Europe, one has a probably genetically caused rare disease. The draft sequence of the human genome published in year 2001, as well as the automation of PCR and sequencing techniques enabled the identification of a large number of genes that cause rare diseases, as well as the establishment and wide application of molecular-genetic diagnostics. Thus, it was possible to establish the genetic background of relatively frequent and diseases without significant allelic or locus heterogeneity. The development of massive parallel sequencing methods has enabled a broader diagnosis of known diseases, but also enabled scientific community to look for the cause of each rare disease. However, after more than 10 years, over 70% of probably genetically caused diseases still have an unknown etiology. PB - Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo T2 - Trendovi u molekularnoj Biologiji T1 - Nova paradigma u dijagnostici retkih bolesti T1 - Diagnostics of rare diseases new paradigm EP - 59 IS - 1 SP - 54 UR - https://hdl.handle.net/21.15107/rcub_imagine_1671 ER -
@inbook{ author = "Keckarević Marković, Milica and Kecmanović, Miljana and Keckarević, Dušan", year = "2021", abstract = "Po definiciji, retke bolesti obuhvataju oboljenja čija je učestalost manja od 1 u 2000 u Evropi. Do sada je identifikovano skoro 7000 retkih bolesti uzrokovanih mutacijama u preko 4000 gena, a na svakih 50 osoba u Evropi jedna ima retku bolest za koju je pokazano ili se smatra da je genetički uzrokovana. Objavljivanje preliminarne sekvence humanog genoma 2001. godine, kao i automatizacija reakcija PCR-a i sekvenciranja, omogućilo je otkrivanje velikog broja gena uzročnika retkih bolesti, kao i uspostavljanje i široku primenu molekularno - genetičke dijagnostike. Na ovaj način je omogućena dijagnostika bolesti koje su se odlikovale relativno čestim pojavljivanjem, a koje nisu imale posebno izraženu alelsku ili lokusnu heterogenost. Razvoj metoda masivnog paralelnog sekvenciranja omogućio je širu dijagnostiku poznatih bolesti, ali se otvorila i mogućnost da se potraži uzrok za svaku retku bolest, međutim, nakon više od 10 godina masovne primene, preko 70% bolesti verovatno uzrokovanih naslednim faktorima i dalje ima nepoznatu etiologiju., Rare diseases comprise diseases with a frequency less than 1 in 2000 in Europe. So far, almost 7,000 rare diseases caused by mutations in over 4,000 genes have been identified, and for every 50 people in Europe, one has a probably genetically caused rare disease. The draft sequence of the human genome published in year 2001, as well as the automation of PCR and sequencing techniques enabled the identification of a large number of genes that cause rare diseases, as well as the establishment and wide application of molecular-genetic diagnostics. Thus, it was possible to establish the genetic background of relatively frequent and diseases without significant allelic or locus heterogeneity. The development of massive parallel sequencing methods has enabled a broader diagnosis of known diseases, but also enabled scientific community to look for the cause of each rare disease. However, after more than 10 years, over 70% of probably genetically caused diseases still have an unknown etiology.", publisher = "Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo", journal = "Trendovi u molekularnoj Biologiji", booktitle = "Nova paradigma u dijagnostici retkih bolesti, Diagnostics of rare diseases new paradigm", pages = "59-54", number = "1", url = "https://hdl.handle.net/21.15107/rcub_imagine_1671" }
Keckarević Marković, M., Kecmanović, M.,& Keckarević, D.. (2021). Nova paradigma u dijagnostici retkih bolesti. in Trendovi u molekularnoj Biologiji Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo.(1), 54-59. https://hdl.handle.net/21.15107/rcub_imagine_1671
Keckarević Marković M, Kecmanović M, Keckarević D. Nova paradigma u dijagnostici retkih bolesti. in Trendovi u molekularnoj Biologiji. 2021;(1):54-59. https://hdl.handle.net/21.15107/rcub_imagine_1671 .
Keckarević Marković, Milica, Kecmanović, Miljana, Keckarević, Dušan, "Nova paradigma u dijagnostici retkih bolesti" in Trendovi u molekularnoj Biologiji, no. 1 (2021):54-59, https://hdl.handle.net/21.15107/rcub_imagine_1671 .