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DNA Methods in Veterinary Medicine
Published in Rebecca A. Krimins, Learning from Disease in Pets, 2020
The largest source of new human Mendelian disorders (i.e., disorders that are inherited within pedigrees) are from consanguineous marriages, usually of cousins. This has been known for a long time and is likely the reason for various cultural prohibitions of incest. Interestingly, Darwin was aware of the risks of this when he married his cousin in 1839. Many, if not most, captive animals are inbred in order to “fix” particular traits that are of value to humans but, as in humans, this can lead to increased risks for particular disorders. With the advent of inexpensive testing there is an increasing understanding of the genes, and often mutations, associated with particular traits. By far, most information is known about the mouse which remains the best animal model for studying human disease. Mice are useful for this, because as noted above, all placental mammals share very similar numbers of genes and pathways so that findings in one species can often be translated to another. Details of mouse studies can be found at the mouse genome database (www.informatics.jax.org). Studies of other species are available at OMIA (omia.org). OMIM, the human genetic disorder database, has some 640 entries with model organism data, about 50 of which include examples from dogs.
Molecular Genetics and Diagnostic Testing
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of over 10,000 human genetic disorders, which includes information on clinical presentation, inheritance pattern, and molecular pathology (www.ncbi.nlm.nih.gov/omim).
Victor McKusick (1921–2008)—Father of Medical Genetics
Published in Krishna Dronamraju, A Century of Geneticists, 2018
From the beginning, HUGO was supported by funds from the Howard Hughes Medical Institute (HHMI), which also supported the development of OMIM beginning in 1985 and for several years afterward. HHMI, in fact, played the same supporting role as had the MOD with reference to the Bar Harbor courses, the conferences on the Clinical Delineation of Birth Defects, and most of the HGM workshops.
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review
Published in Ophthalmic Genetics, 2023
Kevin Babu, Kimberly Seamon, Ann Jewell, Anna Harrison, Amy Harper, Hind Al Saif, Natario Couser
In addition to our cases, we performed a systematic review of the literature to identify previous reports of HMSN6A and detail the ocular findings in such cases. Journal articles were found through Online Mendelian Inheritance in Men (OMIM) search for “HMSN6A,” which led to OMIM entry # 601152, and a PubMed/Medline search for “hereditary motor and sensory neuropathy AND optic atrophy.” We reviewed the results and included articles describing patients with a clinical syndrome consistent with HMSN6A. We further reviewed the references in the selected articles to identify additional reports that were not included in the OMIM entry. Articles other than those written in English were excluded, with no omissions based on the year of publication. This search led to the identification of 71 molecular confirmed or suspected clinical reports of HMSN6A. The ocular and clinical findings of these cases, including our two patients and their family members, are summarized in Table 1.
Network pharmacology and in vitro experimental verification to explore the mechanism of Sanhua decoction in the treatment of ischaemic stroke
Published in Pharmaceutical Biology, 2022
Wei Zhang, Li Zhang, Wen jun Wang, Shanbo Ma, Mingming Wang, Minna Yao, Ruili Li, Wei wei Li, Xian Zhao, Dongmei Hu, Yi Ding, Jingwen Wang
The composition of SHD was obtained from the TCMSP2.3 database and duplicate data were removed (Ru et al. 2014), providing comprehensive information on herbal components, such as chemical structure and oral bioavailability (OB), drug-likeness (DL) and drug targets. The pharmacokinetic parameters OB and DL are important contributors to bioactivity. The active ingredients were selected with OB ≥30% and DL ≥0.18 (Xu et al. 2012; Liu et al. 2013). Compound-related targets were screened from TCMSP 2.3 and Swiss Target Prediction (http://www.swisstargetprediction.ch/) by limiting to ‘Homo sapiens’. The formal gene name and UniProt ID of all genes were switched from UniProt. The disease-related targets were assembled from the OMIM (updated 30 July 2021) and GeneCards 5.4 databases.
Polygenic and Network-based studies in risk identification and demystification of cancer
Published in Expert Review of Molecular Diagnostics, 2022
Christopher El Hadi, Georges Ayoub, Yara Bachir, Michèle Haykal, Nadine Jalkh, Hampig Raphael Kourie
Advances in DNA sequencing tools have made analysis of the human genome faster and cheaper, and thus more accessible to researchers in a variety of biomedical disciplines [1]. These enabled the early diagnosis of newborns with complex genetic diseases that are often overlooked by parents and clinicians [2], and to prescribe more accurately the right drugs for each patient [3]. These prodigious advances also forced scientists to reconsider their original assumption that the origin of every disease is a single gene that goes astray, reminiscent of a Mendelian mind-set. This is because monogenetic diseases have been proven to be rare, do not represent the daily bread of a clinician, and do not explain the causes of other more frequent diseases. To date, about 7000 of these ‘monocausal’ diseases have been recognized and cataloged by Victor McKusick and can be found on the regularly updated OMIM website [4].