Search Results - "Dawkins, Hugh J. S."

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges by Bilkey, Gemma A, Burns, Belinda L, Coles, Emily P, Bowman, Faye L, Beilby, John P, Pachter, Nicholas S, Baynam, Gareth, J S Dawkins, Hugh, Nowak, Kristen J, Weeramanthri, Tarun S

“…The expanding use of genomic technologies encompasses all phases of life, from the embryo to the elderly, and even the posthumous phase. In this paper, we…”
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Role of international registries in enhancing the care of familial hypercholesterolaemia by Hammond, Emma, Watts, Gerald F, Rubinstein, Yaffa, Farid, Waleed, Livingston, Michael, Knowles, Joshua W, Lochmüller, Hanns, Bellgard, Matthew, Dawkins, Hugh JS

“…Familial hypercholesterolaemia (FH) is a relatively common genetic disorder associated with high risk of coronary heart disease that is preventable by early…”
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Editorial: Precision Public Health by Weeramanthri, Tarun Stephen, Dawkins, Hugh J S, Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard

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Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration by Bellgard, Matthew I, Walker, Caroline E, Napier, Kathryn R, Lamont, Leanne, Hunter, Adam A, Render, Lee, Radochonski, Maciej, Pang, Jing, Pedrotti, Annette, Sullivan, David R, Kostner, Karam, Bishop, Warrick, George, Peter M, O’Brien, Richard C, Clifton, Peter M, Bockxmeer, Frank M Van, Nicholls, Stephen J, Hamilton-Craig, Ian, Dawkins, Hugh JS, Watts, Gerald F

“…Familial Hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease…”
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Plain-language medical vocabulary for precision diagnosis by Vasilevsky, Nicole A., Foster, Erin D., Engelstad, Mark E., Carmody, Leigh, Might, Matt, Chambers, Chip, Dawkins, Hugh J. S., Lewis, Janine, Della Rocca, Maria G., Snyder, Michelle, Boerkoel, Cornelius F., Rath, Ana, Terry, Sharon F., Kent, Alastair, Searle, Beverly, Baynam, Gareth, Jones, Erik, Gavin, Pam, Bamshad, Michael, Chong, Jessica, Groza, Tudor, Adams, David, Resnick, Adam C., Heath, Allison P., Mungall, Chris, Holm, Ingrid A., Rageth, Kayli, Brownstein, Catherine A., Shefchek, Kent, McMurry, Julie A., Robinson, Peter N., Köhler, Sebastian, Haendel, Melissa A.

“…For undiagnosed patients and those with rare diseases, the affected individuals themselves are an especially critical source of phenotyping information. These…”
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The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future by Molster, Caron M, Bowman, Faye L, Bilkey, Gemma A, Cho, Angela S, Burns, Belinda L, Nowak, Kristen J, Dawkins, Hugh J S

“…Public health genomics has evolved to responsibly integrate advancements in genomics into the fields of personalized medicine and public health. Appropriate,…”
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Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments by Molster, Caron M, Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus John, Straub, Volker, Dawkins, Hugh J S, Laing, Nigel

“…Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening…”
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Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus by Burns, Belinda L, Bilkey, Gemma A, Coles, Emily P, Bowman, Faye L, Beilby, John P, Pachter, Nicholas S, Baynam, Gareth, Dawkins, Hugh J S, Weeramanthri, Tarun S, Nowak, Kristen J

“…This paper examines key considerations for the successful integration of genomic technologies into healthcare systems. All healthcare systems strive to…”
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A flexible computational pipeline for research analyses of unsolved clinical exome cases by Lassmann, Timo, Francis, Richard W., Weeks, Alexia, Tang, Dave, Jamieson, Sarra E., Broley, Stephanie, Dawkins, Hugh J. S., Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borri, Cathy, McKenzie, Fiona, Murphy, Lesley, Pachter, Nicholas, Pathak, Gargi, Poulton, Cathryn, Samanek, Amanda, Skoss, Rachel, Slee, Jennie, Townshend, Sharron, Ward, Michelle, Baynam, Gareth S., Blackwell, Jenefer M.

“…Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust…”
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International Charter of principles for sharing bio-specimens and data by Mascalzoni, Deborah, Dove, Edward S, Rubinstein, Yaffa, Dawkins, Hugh J S, Kole, Anna, McCormack, Pauline, Woods, Simon, Riess, Olaf, Schaefer, Franz, Lochmüller, Hanns, Knoppers, Bartha M, Hansson, Mats

“…There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term…”
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The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort by Walker, Caroline E., Mahede, Trinity, Davis, Geoff, Miller, Laura J., Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R., Baynam, Gareth S., Molster, Caron, Dawkins, Hugh J.S., Weeramanthri, Tarun S.

“…Purpose: It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data…”
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Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective by Dawkins, Hugh J.S., Draghia‐Akli, Ruxandra, Lasko, Paul, Lau, Lilian P.L., Jonker, Anneliene H., Cutillo, Christine M., Rath, Ana, Boycott, Kym M., Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Yann, Hivert, Virginie, Austin, Christopher P.

“…[...]one recent study from Western Australia concluded that in 2010 the state population affected by a limited cohort of only 467 rare diseases represented 2%…”
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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective by Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

“…The scale of the “rare disease problem”—thousands of rare diseases, the vast preponderance of them with no approved treatment, and decades‐long diagnostic…”
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Awakening Australia to Rare Diseases: symposium report and preliminary outcomes by Dawkins, Hugh J S, Molster, Caron M, Youngs, Leanne M, O'Leary, Peter C

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The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact by Lochmüller, Hanns, Torrent I Farnell, Josep, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian Pl, Baynam, Gareth, Kaufmann, Petra, Dawkins, Hugh Js, Lasko, Paul, Austin, Christopher P, Boycott, Kym M

“…The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in…”
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Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits by Mahede, Trinity, Davis, Geoff, Rutkay, April, Baxendale, Sarah, Sun, Wenxing, Dawkins, Hugh J S, Molster, Caron, Graham, Caroline E

“…People with neuromuscular disorders (NMD) exhibit weak coughs and are susceptible to recurrent chest infections and acute respiratory complications, the most…”
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Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity by Baynam, Gareth, Molster, Caron, Bauskis, Alicia, Kowal, Emma, Savarirayan, Ravi, Kelaher, Margaret, Easteal, Simon, Massey, Libby, Garvey, Gail, Goldblatt, Jack, Pachter, Nicholas, Weeramanthri, Tarun S, Dawkins, Hugh J S

“…Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances…”
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3-Dimensional Facial Analysis-Facing Precision Public Health by Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L, Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E, Hawkins, Anne, Goldblatt, Jack, Weeramanthri, Tarun S, Dawkins, Hugh J S, Molster, Caron M

“…Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population…”
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A Web-Based Registry for Familial Hypercholesterolaemia by Napier, Kathryn R, Pang, Jing, Lamont, Leanne, Walker, Caroline E, Dawkins, Hugh JS, Hunter, Adam A, Bockxmeer, Frank M van, Watts, Gerald F, Bellgard, Matthew I

“…Familial hypercholesterolaemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease…”
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Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia by Metternick-Jones, Selina Carolyne, Lister, Karla Jane, Dawkins, Hugh J S, White, Craig Anthony, Weeramanthri, Tarun Stephen

“…Newborn bloodspot screening has been operating successfully in Australia for almost 50 years. Recently, the development of new technologies and treatments has…”
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