German Ethics Council on genetic diagnostics: trend setting?

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

Genes ◽

10.3390/genes12010066 ◽

2021 ◽

Vol 12 (1) ◽

pp. 66

Author(s):

Alexey Meshkov ◽

Alexandra Ershova ◽

Anna Kiseleva ◽

Evgenia Zotova ◽

Evgeniia Sotnikova ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Significant Proportion ◽

Density Lipoprotein ◽

Genetic Diagnostics ◽

Atherosclerotic Cardiovascular Disease ◽

Gene Variants ◽

Systematic Analysis ◽

Pcsk9 Gene ◽

Cholesterol Levels

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood. The aim of this study is to present data on the spectrum of LDLR, APOB, and PCSK9 gene variants in a cohort of 595 index Russian patients with FH, as well as an additional systematic analysis of the literature for the period of 1995–2020 on LDLR, APOB and PCSK9 gene variants described in Russian patients with FH. We used targeted and whole genome sequencing to search for variants. Accordingly, when combining our novel data and the data of a systematic literature review, we described 224 variants: 187 variants in LDLR, 14 variants in APOB, and 23 variants in PCSK9. A significant proportion of variants, 81 of 224 (36.1%), were not described earlier in FH patients in other populations and may be specific for Russia. Thus, this study significantly supplements knowledge about the spectrum of variants causing FH in Russia and may contribute to a wider implementation of genetic diagnostics in FH patients in Russia.

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Integrated THz technology for label-free genetic diagnostics

Applied Physics Letters ◽

10.1063/1.1428619 ◽

2002 ◽

Vol 80 (1) ◽

pp. 154-156 ◽

Cited By ~ 328

Author(s):

M. Nagel ◽

P. Haring Bolivar ◽

M. Brucherseifer ◽

H. Kurz ◽

A. Bosserhoff ◽

...

Keyword(s):

Genetic Diagnostics ◽

Label Free ◽

Thz Technology

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Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

Circulation Cardiovascular Genetics ◽

10.1161/circgenetics.110.958322 ◽

2011 ◽

Vol 4 (2) ◽

pp. 110-122 ◽

Cited By ~ 113

Author(s):

Benjamin Meder ◽

Jan Haas ◽

Andreas Keller ◽

Christiane Heid ◽

Steffen Just ◽

...

Keyword(s):

Next Generation Sequencing ◽

Molecular Genetic ◽

Genetic Diagnostics ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Molecular Genetic Diagnostics ◽

Generation Sequencing

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Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2021.03.26-35 ◽

2021 ◽

pp. 26-35

Author(s):

М.Д. Орлова ◽

П. Гундорова ◽

А.В. Поляков

Keyword(s):

Autosomal Recessive ◽

Molecular Genetic ◽

Autosomal Recessive Disorder ◽

Genetic Diagnostics ◽

Bardet Biedl Syndrome ◽

Pathogenic Variants ◽

Development Delay ◽

Molecular Genetic Diagnostics ◽

First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

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