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Human genetics in troubled times and places

The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including two world wars and the ... of government sponsored eugenics programmes, now mostly discarded. During the post-world war 2 decades, human genetics research benefited greatly from recognition of the genetic dangers posed by

From mechanisms to therapy: RNA processing’s impact on human genetics

aberrant RNA processing in inherited diseases and cancer. As editors of this special issue, it has been our goal to increase the awareness of the readership of Human Genetics of RNA processing as a mechanism ... Human Genetics for helping us to share this important corner of the RNA world with you. Berget SM , Moore C , Sharp PA ( 1977 ) Spliced segments at the 5′ terminus of adenovirus 2 late mRNA . Proc Natl

Human genetics as a model for target validation: finding new therapies for diabetes

towards new therapies remains slow. A major barrier is the insufficiency of traditional preclinical models for predicting drug efficacy and safety. Human genetics offers a complementary model to assess ... tackling this experimental bottleneck. KATP MTRN1B NEUROD1 PheWAS Adverse effects; Genome-wide association studies; Human genetics; Monogenic diabetes; Precision medicine; Review; Target discovery; Target

Assessment of Genetics Understanding

to employ an experimental research design to quantify the degree to which situational features impact inferences about participants’ understanding of Mendelian genetics. Two participant samples from ... features play a significant role in some aspects of undergraduate participants’ genetics reasoning. Specifically, a problem featuring human albinism elicited higher quality arguments among early career

Genetics Education

science. In this sense, history, philosophy, and sociology of science can provide educators with important insights and ideas about how to structure teaching about genetics. This is the normative dimension ... students and teachers in classrooms. For instance, to take the topic of an article in this issue as an example, there might be several arguments about whether we should keep teaching Mendelian genetics in

Comparative review of human and canine osteosarcoma: morphology, epidemiology, prognosis, treatment and genetics

review compares the clinical characteristics, gross morphology and histopathology, aetiology, epidemiology, and genetics of canine and human OSA. Finally, the current position of canine OSA genetic ... are identified. Bone cancer; Canine; Genetics; Human; Molecular diagnostics; Osteosarcoma; Treatment Background Cancer is a leading cause of non-communicable morbidity and mortality throughout the

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://www.cags.org.ae) in Dubai, United Arab Emirates ... ‑Ali 0 Abdul Rezzak Hamzeh 0 0 Background The 6th Pan Arab Human Genetics Conference, “Genet- ics of Multifactorial Disorders” was hosted by Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical

Forward genetics screen coupled with whole-genome resequencing identifies novel gene targets for improving heterologous enzyme production in Aspergillus niger

efficient. Fungal host strains still need to be engineered to increase production titers of heterologous protein over native enzymes, which has been a difficult task. Here, we developed a forward genetics ... genetics screen coupled with whole-genome resequencing to identify specific lesions responsible for a protein hyper-production phenotype in A. niger. This strategy successfully identified novel targets

Estimating Sampling Selection Bias in Human Genetics: A Phenomenological Approach

This research is the first empirical attempt to calculate the various components of the hidden bias associated with the sampling strategies routinely-used in human genetics, with special reference to ... methods have restrictions and drawbacks [2, 3]. In human evolutionary genetics, especially when inferring past demography upon Y chromosome diversity, direct methods based on either self-declared ancestry

The mitotic spindle: linking teratogenic effects of Zika virus with human genetics?

Medical Genetics, University Rostock Medical Center , Ernst-Heydemann-Strasse 8, D-18057 Rostock , Germany 1 Centre for Human Genetics, University of Bremen , Leobener Str. ZHG, D-28359 Bremen , Germany 2 ... . Zika virus; Microcephaly; Chorioretinopathy; Mechanisms; Syndromes; Genetics; Phenocopy Background The Zika virus (ZIKV) is an arbovirus of the flaviviridae family with a single-stranded RNA genome of

Gene-flow in the clouds: landscape genetics of a viviparous, montane grassland toad in the tropics

(elevation) have an influence on Nimba toad population differentiation and gene-flow. Nimba toad; Population genetics; Sex-biased dispersal; Small population size; Nimbaphrynoides occidentalis; Desiccation ... 2017) . Currently, Nimba toads occur at two locations within the high elevation grasslands in Guinea and in the human-derived secondary grasslands in the former mining site in Liberia. Despite extensive

Genetics of rheumatoid arthritis susceptibility, severity, and treatment response

potential clinical applications of human genetics and its significance for a stratified approach to the management of RA in the future. ... Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust , Grafton Street, Manchester M13 9WL , UK 1 Arthritis Research UK Centre for Genetics and Genomics, Centre for

Human Genetics and the Causal Role of Lipoprotein(a) for Various Diseases

oxidized phospholipids (OxPl) to apo(a) of the Lp(a) particle [ 9, 10 ]. Levels of Lp(a) and OxPl in human plasma are highly correlated, suggesting that individuals with high Lp(a) have a higher binding ... with CVD [ 12, 13 ]. LPA Gene and Structure of Lp(a) To understand the genetics of Lp(a) one first has to understand the structure of the LPA gene and how this structure has developed during

Genetic Determinism in the Genetics Curriculum

article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism ... on the human-genetics component of the standard curriculum, using human examples where possible and appropriate (e.g. in introducing the structure and function of DNA), and only including those genetic

The Implications of Genetics for Prevention and Intervention Programming

exciting opportunities for prevention researchers. Another avenue for the inclusion of genetics in prevention work may lie in the natural experimental designs available within the human population (Leve et ... Indians with genetic admixture . American Journal of Human Genetics , 43 , 520 - 526 . Latendresse , S. J. , Musci , R. , & Maher , B. S. ( 2017 ). Critical issues in the inclusion of genetic and epigenetic

Human Genetics’ 50th Anniversary Issue

The journal Human Genetics celebrates its 50th anniversary in 2014. Two giants in the field of human genetics, Arno Motulsky (1923–), of the University of Washington in Seattle, and Friedrich Vogel ... University a venue , Suite 510, 101, College Street , t oronto , ON M5G 0a3, Canada - the journal Human Genetics celebrates its 50th anniver sary in 2014. t wo giants in the field of human genetics, arno

Genetics of Depression: Progress at Last

provide invaluable insights into the biology of depression and exciting opportunities to develop new biomarkers and therapeutic targets. Depression; Genetics; Genome-wide association study; Heterogeneity ... ]. Challenges of Depression Genetics There are several reasons why identifying risk loci for MDD has proven difficult. First, like most complex diseases, depression is a polygenic disorder arising from the

Human genetics special issue on computational molecular medicine

sequencing data, many now consider the greatest challenge to be one of interpretations; as the joke goes, the $1000 genome is now coupled with the $10,000 interpretation. In this special issue of Human ... Genetics, we present reviews on progress and some of the remaining challenges in several broad areas of modern and medically relevant genomic and transcriptomic-and other omics-interpretation, which we

Population genetics and adaptation to climate along elevation gradients in invasive Solidago canadensis

]. Because many invasive species have traits that tend to promote dispersal and gene flow such as the production of many small seeds [ 32,33 ], and benefit from more frequent human-assisted transport, gene ... population structure and infer the degree of seed and pollen movement, we sampled 43 S. canadensis populations from across Switzerland in 2012, aiming to cover a wide range of elevations and human population

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which ... drawn from Orion intolerant regions. Discussion Interpreting variation in the non-coding region of the genome has remained one of the central challenges of human genetics. Currently, whole-exome