17,772 research outputs found
Medicine in the Beehive State: Chapter 38: Human genetics
No full textThis is a chapter on the history of the Department of Human Genetics at the University of Utah taken from the book, Medicine in the Beehive State, 1940-1990, edited by Henry P. Plenk and Trudy McMurrin
Thomas D. Dee Endowed Chair in Genetics: A proposal to Mr. Thomas D. Dee from the University School of Medicine
No full textmemorandumThis is a copy of the University of Utah School of Medicine\u27s proposal of July, 1982 to Mr. Thomas D. Dee for a gift of $675,000.00 to an endowed chair in the then newly established Department of Human Genetics, the chair to be known as the Thomas D. Dee Endowed Chair in Genetics
CIHR Institute of Genetics Town Hall: Strategic Plan and Funding Opportunties
No full textThe CIHR Institute of Genetics (IG) supports research on the human and model genomes and on all aspects of genetics, basic biochemistry and cell biology related to health and disease, including the translation of knowledge into health policy and practice, and the societal implications of genetic discoveries. Dr. Paul Lasko, Scientific Director of IG, discussed the IG Strategic Plan and targeted initiatives
Thomas D. Dee Presidential Chair in Genetics: A proposal to Mr. Thomas D. Dee from the University of Utah College of Medicine
No full textmemorandumThis is a copy of the March, 1980 University of Utah College of Medicine\u27s proposal of a gift of one million dollars from Mr. Thomas D. Dee to fund an endowed chair in genetics. The chair would be named in honor of the proposed donor
Bioinformatics for Human Genetics: Promises and Challenges
No full textInternational audienceComputers have been used for decades to get practical work done in the field of human genetics for the benefit of patients and the advancement of science. To name only two examples, computer algorithms and programs for linkage analysis have formed the foundation of most disease-gene discovery projects, and databases of clinical findings have been widely used to support diagnostic decisions in the field of dysmorphology and general human genetics. A number of trends and recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the ever increasing role of hospital information technology (IT) systems and electronic health records are confronting scientists and clinicians with ever increasing amounts of data but also with ever improving tools to analyze these data for research and clinical care. Correspondingly, the field of bioinformatics is increasingly turning to research questions in the field of human genetics, and the field of human genetics is increasingly making use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in Human Genetics, and we have been fortunate to be able to recruit some of the leaders in this field as authors
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations
No full textDetailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to investigate the corresponding genetic contribution to intellectual disability. We addressed the impact of the gene interruptions in transcription and discussed the consequences of their functional impairment in neurodevelopment. Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability. While gene expression analysis showed absence of TSPAN7 and KIAA2022 expression in the patients, the unexpected expression of IL1RAPL1 suggested a fusion transcript ZNF611-IL1RAPL1 under the control of the ZNF611 promoter, gene disrupted at the autosomal breakpoint. The X-chromosomal breakpoint definition in the fourth patient, a woman with normal intellectual abilities, revealed disruption of the ZDHHC15 gene (MRX91). The expression assays did not detect ZDHHC15 gene expression in the patient, thus questioning its involvement in intellectual disability. Revealing the disruption of an X-linked intellectual disability-related gene in patients with balanced X-autosome translocation is a useful tool for a better characterization of critical genes in neurodevelopment.Department of Morphology and Genetics Genetics Division Universidade Federal de São PauloJena University Hospital Friedrich Schiller University Institute of Human GeneticsDepartment of Psychobiology Universidade Federal de São PauloDepartament of Genetics Instituto de Biocincias de Botucatu Universidade Estadual de São PauloDepartament of Genetics Instituto de Biocincias de Botucatu Universidade Estadual de São Paul
ASHG Position Statement : The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
No full text© 2019 American Society of Human Genetics. This manuscript version is made available under the CC-BY-NC-ND 4.0 license:
http://creativecommons.org/licenses/by-nc-nd/4.0/
This author accepted manuscript is made available following 6 month embargo from date of publication (April 2019) in accordance with the publisher’s copyright policyThe evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant’s clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors
Raymond F. Gesteland, Ph.D. and Raymond L. White, Ph.D. (1987)
No full textDrs Ray Gesteland and Ray White, co-chairs of the Department of Human Genetics and Howard Hughes Medical Institute in a conference room of the Eccles Institute of Human Genetics
Franklin Institute award dinner and ceremony held May 1, 1997
No full textvideoThis is a 1 hour, 42 minutes, 53 seconds video of the 1997 Franklin Institute Awards Banquet and Ceremony. The awards included a summary of each winner\u27s achievements, the presentation of the award, and an acceptance speech. The award winners included Ralph L. Brinster, the Bower Award and Prize for Achievement in Science, for his revolutionary research in embryonic-cell differentiation, developmental mechanisms of gene control, and transgenesis; Whittfield Diffie and Martin E. Hellman, recipients of the Louis E. Levy Medal for their combined contributions to the field of cryptology, including the invention of a new method of enciphering termed public key cryptology; Federico Capasso, recipient of the John Price Wetherill Medal for his pioneering contributions to the technique of bandgap engineering and its innovative use in solid state electronics, optoelectronics, and semiconductor science and, in particular, for his invention and experimental demonstration of the quantum cascade laser; Mario R. Capecchi, recipient of The Franklin Medal for his genetic engineering, which has revolutionized mammalian genetics; Irwin Fridovich and Joe Milton McCord, recipients of the Elliott Cresson Medal for their work of discovering and elucidating the biology of free radical reactions and their enzymatic controls of living organisms, as well as the pathology of free radical diseases; Shirika K. Kumanyika, the recipient of the Bolton L. Corson Medal for the development of effective health strategies that have changed conventional thinking about obesity, diet, and chronic disease; and George B. Rathmann, recipient of the Bower Award for Business Leadership for his career of in pioneering biotechnology as a distinct realm of business enterprise
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
No full textIsolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts. European Journal of Human Genetics (2010) 18, 726-732; doi: 10.1038/ejhg.2009.228; published online 20 January 2010http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000277890900017&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701Biochemistry & Molecular BiologyGenetics & HereditySCI(E)12ARTICLE6726-7321
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