scholarly journals Recent Developments in Using Drosophila as a Model for Human Genetic Disease

2018 ◽  
Vol 19 (7) ◽  
pp. 2041 ◽  
Author(s):  
Christine Oriel ◽  
Paul Lasko
Keyword(s):  
Genetic Disease ◽  
Genetic Variant ◽  
Genetic Diseases ◽  
Model Organisms ◽  
Human Genetic Disease ◽  
New Approach ◽  
Linked Gene ◽  
The Us ◽  
Recent Developments ◽  
Disease Loci

Many insights into human disease have been built on experimental results in Drosophila, and research in fruit flies is often justified on the basis of its predictive value for questions related to human health. Additionally, there is now a growing recognition of the value of Drosophila for the study of rare human genetic diseases, either as a means of validating the causative nature of a candidate genetic variant found in patients, or as a means of obtaining functional information about a novel disease-linked gene when there is little known about it. For these reasons, funders in the US, Europe, and Canada have launched targeted programs to link human geneticists working on discovering new rare disease loci with researchers who work on the counterpart genes in Drosophila and other model organisms. Several of these initiatives are described here, as are a number of output publications that validate this new approach.

scholarly journals Recent Developments in Using Drosophila as a Model for Human Genetic Disease

2018 ◽  
Author(s):  
Christine Oriel ◽  
Paul Lasko
Keyword(s):  
Genetic Disease ◽  
Genetic Variant ◽  
Genetic Diseases ◽  
Model Organisms ◽  
Human Genetic Disease ◽  
New Approach ◽  
Linked Gene ◽  
The Us ◽  
Recent Developments ◽  
Disease Loci

Many insights into human disease have been built on experimental results in Drosophila, and research in fruit flies is often justified on the basis of its predictive value for questions related to human health. Additionally, there is now a growing recognition of the value of Drosophila for the study of rare human genetic diseases, either as a means of validating the causative nature of a candidate genetic variant found in patients, or as a means of obtaining functional information about a novel disease-linked gene when there is little known about it. For these reasons, funders in the US, Europe, and Canada have launched targeted programs to link human geneticists working on discovering new rare disease loci with researchers who work on the counterpart genes in Drosophila and other model organisms. Several of these initiatives are described here, as are a number of output publications that validate this new approach.

scholarly journals Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Blood ◽  
2016 ◽  
Vol 127 (15) ◽  
pp. 1856-1862 ◽  
Author(s):  
Andrew Perkins ◽  
Xiangmin Xu ◽  
Douglas R. Higgs ◽  
George P. Patrinos ◽  
Lionel Arnaud ◽  
...  
Keyword(s):  
Blood Cell ◽  
Genome Sequencing ◽  
Broad Spectrum ◽  
Red Blood Cell ◽  
Genetic Disease ◽  
Genetic Diseases ◽  
Whole Genome ◽  
Red Cell ◽  
Human Genetic Disease ◽  
Whole Exome

Abstract Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger panel of genes can be analyzed and whole exome and/or whole genome sequencing can be used when no variants are found in the candidate genes. By using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease.

scholarly journals Xenopus: An Undervalued Model Organism to Study and Model Human Genetic Disease

2018 ◽  
Vol 205 (5-6) ◽  
pp. 303-313 ◽  
Author(s):  
Martin Blum ◽  
Tim Ott
Keyword(s):  
High Speed ◽  
Molecular Mechanisms ◽  
Genetic Diseases ◽  
Model Organism ◽  
Model Organisms ◽  
Human Genetic Disease ◽  
The Past ◽  
Large Numbers ◽  
Pros And Cons ◽  
Cost Efficient

The function of normal and defective candidate genes for human genetic diseases, which are rapidly being identified in large numbers by human geneticists and the biomedical community at large, will be best studied in relevant and predictive model organisms that allow high-speed verification, analysis of underlying developmental, cellular and molecular mechanisms, and establishment of disease models to test therapeutic options. We describe and discuss the pros and cons of the frog Xenopus, which has been extensively used to uncover developmental mechanisms in the past, but which is being underutilized as a biomedical model. We argue that Xenopus complements the more commonly used mouse and zebrafish as a time- and cost-efficient animal model to study human disease alleles and mechanisms.

Etiology of Human Genetic Disease on the Fly

2017 ◽  
Vol 33 (6) ◽  
pp. 391-398 ◽  
Author(s):  
Clement Y. Chow ◽  
Lawrence T. Reiter
Keyword(s):  
Genetic Disease ◽  
Human Genetic Disease

scholarly journals Genomic microarrays in human genetic disease and cancer

2003 ◽  
Vol 12 (suppl 2) ◽  
pp. R145-R152 ◽  
Author(s):  
D. G. Albertson ◽  
D. Pinkel
Keyword(s):  
Genetic Disease ◽  
Human Genetic Disease

Recent Developments of the Theory of Turbulence

1937 ◽  
Vol 4 (3) ◽  
pp. A105-A108
Author(s):  
Hugh L. Dryden
Keyword(s):  
Turbulent Motion ◽  
New Approach ◽  
Recent Developments

Abstract A brief account is given of the principal concepts which have been utilized in the formulation of theories of the turbulent motion of fluids prior to 1935 and the new approach originated by G. I. Taylor in that year. A bibliography of 31 papers is included.

Mother’s curse neutralizes natural selection against a human genetic disease over three centuries

2017 ◽  
Vol 1 (9) ◽  
pp. 1400-1406 ◽  
Author(s):  
Emmanuel Milot ◽  
Claudia Moreau ◽  
Alain Gagnon ◽  
Alan A. Cohen ◽  
Bernard Brais ◽  
...  
Keyword(s):  
Natural Selection ◽  
Genetic Disease ◽  
Human Genetic Disease
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