Health Professionals and Modern Human Research Ethics
Howard Winet in Ethics for Bioengineering Scientists, 2021
Research funded to unprecedented levels (Malerba and Orsenigo 2001) by NIH, NSF and emerging scientific institutes enabled scientists using animal models to uncover physiological mechanisms underlying functions compromised by disease. Advances in cell biology, enzymology and pharmacology provided understandings of the mechanism of action of existing drugs, and some basis for predicting potential effectiveness of variations in their chemical structure (Malerba and Orsenigo 2001). As a result, the random screening approach to drug development transformed to drug design. Molecular genetics and methodologies like recombinant DNA formed a foundation for advance to the third major epoch of the pharmaceutical industry, biotechnology. In 1976, a pattern began in which academic scientists partnered with venture capitalists to form medical product development companies. Herbert Boyer Ph.D. (a co-developer of recombinant DNA methodology at UCSF) and Robert Swanson formed the first new biotechnology company, Genentech.
Charcot-Marie-Tooth Disease: Disorder or Syndrome?
Leon I. Charash, Robert E. Lovelace, Claire F. Leach, Austin H. Kutscher, Rabbi Jacob Goldberg, David Price Roye, Jill C. Crabtree in Muscular Dystrophy and Other Neuromuscular Diseases: Psychosocial Issues, 2014
Of course, controlled trials are included under research as are new orthopedic and physiotherapeutic procedures. Other basic research is mainly in the area of molecular genetics where large families, when investigated, can ultimately give valuable information.3 The Muscular Dystrophy Association and other organizations as well as the neuromuscular centers can provide information of this activity. Several gene locations have been isolated. At a recent symposium held by the Muscular Dystrophy Association, Ionasescu has indicated the possibility of up to six genes being involved on five chromosomes: numbers 1, 9, 15, 17 and X.4 It is to be hoped that further refinements will make this the diagnostic aide of the future, but until then we need to rely on careful clinical syndrome descriptions leading to research activities. Podiatrists also have research programs in this area. Basic scientists are investigating nerve and myelin development mechanisms as well as evaluating the role of fatty acids and immunological factors.3
Towards precision medicine
Yann Joly, Bartha Maria Knoppers in Routledge Handbook of Medical Law and Ethics, 2014
Modern molecular genetics has the potential to substantially impact many aspects of medicine, including the development of pharmacological treatments. Genetic information enables the identification of individuals through their polymorphisms, small variations in genes related to the inter-individual variability in a given population (Hedrick 2011: 104). It has also increased our understanding of the molecular mechanisms of diseases, allowing genes and their products to become the molecular targets of new pharmaceutical therapies aimed at modulating gene activity (Strachan and Read 1999). As such, the study of genetic biomarkers has been used to foster knowledge and facilitate the prediction of human disease, enable more accurate diagnoses and improve the safety and efficacy of medications tailored to the needs of specific patient groups.
Beyond visualization of DNA double-strand breaks after radiation exposure
Published in International Journal of Radiation Biology, 2022
Asako J. Nakamura
I have been interested in molecular genetics since I was a high school student. When I was a 4th grade student at Hiroshima University, I joined to Dr. Komatsu’s Laboratory. My research career started with research aimed at cloning the NBS1 gene and gene mutation analysis of Fanconi anemia. At that time, cloning of the NBS1 gene was state-of-the-art research being undertaken by multiple laboratories around the world, and we were nervous about which laboratory would publish the paper first. Finally, in 1998, papers reporting the NBS1 gene cloning were published in Cell, and a paper by Komatsu Lab appeared in Nature Genetics (Carney et al. 1998; Matsuura et al. 1998; Varon et al. 1998). To achieve this competitive work, some researchers became ill and fatigued due daily sequencing experiments without rest, and others developed calluses on their fingers caused by opening and closing many 1.5 ml tubes. In particular, I remember Professor Komatsu boarding an international flight with the completed manuscript and actually carrying it personally to the editorial office of Nature Genetics in New York. Now that online posting is commonplace, it's an unimaginable event. I appreciated then that in order to be competitive in science, one must work at this pace and level. Hence, I realized that research activities need physical fitness.
British Journal of Biomedical Science in 2021. What have we learned?
Published in British Journal of Biomedical Science, 2021
G Orchard, A Rhodes, NW Brown
As seen throughout the articles published in 2021, volume 78 of the British Journal of Biomedical Science (BJBS) the molecular techniques discussed are often applied as an investigative tool to determine the clinical relevance of genes in an organism’s genome employing genetic screens. It also emphasizes the increasingly important role this technology has across all the traditional biomedical science disciplines. This approach helps us to understand how molecular genetics can be used as a powerful methodology for linking mutations to genetic sequences, may aid the search for treatments and or possible cures for various genetic based abnormalities. Many conditions and illnesses still cause considerable misery and suffering. Better laboratory diagnostics are therefore needed to provide more accurate information and lead to improved patient care – the aim being to provide for a higher quality of life for individuals with these conditions. Moreover some of the molecules and approaches described in the journal, such as analysis of micro-RNAs and single nucleotide polymorphisms (SNPs) for a range of genes, may appear esoteric to many of us working in the laboratories, where more traditional methods hold sway. The important point here is to realize the pace of change in this area and also to recognize the importance of ‘biomarker’ studies as complementary to experimental studies on cell lines and animal based studies approach in the field, thus enabling a more synergistic approach to the study of disease mechanisms and pathological processes generally (Figure 2).
British Journal of Biomedical Science in 2017: What have we learned?
Published in British Journal of Biomedical Science, 2018
Andrew Blann
The importance of molecular genetics in laboratory science is such that of 28 papers with original articles published this year, just over half (15) used methods in DNA and/or RNA. microRNAs (miRNAs; short [18–25 nucleotides, hence micro] non-coding nucleotide sequences) are one of the more interesting and possibly important entrants into laboratory science in the last few years [46, 47]. Last year the Journal published four articles on these molecules [48–51], and we continued the trend with five such articles this year [15, 18, 23, 34, 43]. These nine papers, and their major findings, are summarised in Table 1. With a growing number of clinical uses for these molecules, it is perhaps only a matter of time before they enter the routine service. It is also possible that miRNAs may also be a new form of therapy [52], possibly deliverable to target cells by monoclonal antibodies or viruses [53], further justifying their entry into routine pathology laboratory work.
Related Knowledge Centers
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