Phylogenetic approach in medical genetics. Evidence for deleterious role of ND5 gene defect in Leigh patients

Mitochondrion ◽  
2006 ◽  
Vol 6 (5) ◽  
pp. 19-20
Author(s):  
S. Zhadanov ◽  
E. Grechanina ◽  
Yu. Grechanina ◽  
V. Gusar ◽  
N. Fedoseeva ◽  
...  
Keyword(s):  
Medical Genetics ◽  
Gene Defect ◽  
Nd5 Gene

Communication in medical genetics and patient autonomy

2020 ◽  
pp. 17-18
Author(s):  
С.В. Шевченко ◽  
С.В. Лаврентьева
Keyword(s):  
Patient Autonomy ◽  
Medical Genetics ◽  
Legal Problems

В свете коммуникативных особенностей медико-генетической консультации рассматривается два типа этико-правовых проблем, касающихся автономии пациента. Показана роль первичной консультации в их решении. In this paper we considered two types of ethical and legal problems regarding patient autonomy in perspective of the communicative features of the medical genetics. Also, this paper shows the role of the primary consultation in solution of this problems.

scholarly journals State of the art paper Contemporary role of medical genetics in internal medicine

2013 ◽  
Vol 4 ◽  
pp. 594-600 ◽  
Author(s):  
Marek Saracyn ◽  
Rafał Płoski ◽  
Stanisław Niemczyk
Keyword(s):  
Internal Medicine ◽  
State Of The Art ◽  
Medical Genetics

scholarly journals Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1885
Author(s):  
Francesca Cristofoli ◽  
Elisa Sorrentino ◽  
Giulia Guerri ◽  
Roberta Miotto ◽  
Roberta Romanelli ◽  
...  
Keyword(s):  
Medical Genetics ◽  
Patient Specific ◽  
Specific Information ◽  
Variant Selection ◽  
Variant Classification ◽  
Variant Interpretation ◽  
Bioinformatics Pipeline ◽  
Different Levels ◽  
Diagnostic Setting

Variant interpretation is challenging as it involves combining different levels of evidence in order to evaluate the role of a specific variant in the context of a patient’s disease. Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overcome subjective interpretation of criteria and classification inconsistencies. Here, we developed an ACMG-based classifier that retrieves information for variant interpretation from the VarSome Stable-API environment and allows molecular geneticists involved in clinical reporting to introduce the necessary changes to criterion strength and to add or exclude criteria assigned automatically, ultimately leading to the final variant classification. We also developed a modified ACMG checklist to assist molecular geneticists in adjusting criterion strength and in adding literature-retrieved or patient-specific information, when available. The proposed classifier is an example of integration of automation and human expertise in variant curation, while maintaining the laboratory analytical workflow and the established bioinformatics pipeline.

scholarly journals Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Hannah Gelman ◽  
◽  
Jennifer N. Dines ◽  
Jonathan Berg ◽  
Alice H. Berger ◽  
...  
Keyword(s):  
Functional Data ◽  
Clinical Utility ◽  
Medical Genetics ◽  
Variant Interpretation ◽  
Variants Of Uncertain Significance ◽  
Uncertain Significance ◽  
Genetics And Genomics ◽  
New Guidelines

AbstractVariants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data derived from multiplexed assays. Here, we build on these existing guidelines to provide recommendations to experimentalists for the production and reporting of multiplexed functional data and to clinicians for the evaluation and use of such data. By following these recommendations, experimentalists can produce transparent, complete, and well-validated datasets that are primed for clinical uptake. Our recommendations to clinicians and diagnostic labs on how to evaluate the quality of multiplexed functional datasets, and how different datasets could be incorporated into the ACMG/AMP variant-interpretation framework, will hopefully clarify whether and how such data should be used. The recommendations that we provide are designed to enhance the quality and utility of multiplexed functional data, and to promote their judicious use.

The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation

2005 ◽  
Vol 58 (5) ◽  
pp. 807-811 ◽  
Author(s):  
Vladimir Mayorov ◽  
Valerie Biousse ◽  
Nancy J. Newman ◽  
Michael D. Brown
Keyword(s):  
Nd5 Gene

The power of partnerships: the Liverpool school of butterfly and medical genetics

2014 ◽  
Vol 47 (4) ◽  
pp. 677-699 ◽  
Author(s):  
DORIS T. ZALLEN
Keyword(s):  
Medical Genetics ◽  
Research Partnerships ◽  
Haemolytic Disease ◽  
Johns Hopkins University ◽  
The 1950S

AbstractFrom the 1950s to the 1970s, a group of physician–researchers forming the ‘Liverpool school’ made groundbreaking contributions in such diverse areas as the genetics of Lepidoptera and human medical genetics. The success of this group can be attributed to the several different, but interconnected, research partnerships that Liverpool physician Cyril Clarke established with Philip Sheppard, Victor McKusick at Johns Hopkins University, the Nuffield Foundation, and his wife Féo. Despite its notable successes, among them the discovery of the method to prevent Rhesus haemolytic disease of the newborn, the Liverpool School began to lose prominence in the mid-1970s, just as the field of medical genetics that it had helped pioneer began to grow. This paper explores the role of partnerships in making possible the Liverpool school's scientific and medical achievements, and also in contributing to its decline.

Survival after adjuvant 5-FU treatment for stage III colon cancer: Possible role of mismatch repair (MMR) gene defect

2003 ◽  
Vol 124 (4) ◽  
pp. A550-A551
Author(s):  
Wouter H. De Vos ◽  
Hielke J. Meulebeld ◽  
Jan H. Kleibeuker ◽  
Fokko M. Nagengast ◽  
Fred H. Menko ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Mismatch Repair ◽  
Stage Iii ◽  
Gene Defect ◽  
Stage Iii Colon Cancer
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