Rinki Murphy

Jun 24, 2024 | mdpi.com | Ilva D. Rupenthal |Rinki Murphy |Odunayo O. Mugisho |Charisse Y. J

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Oct 4, 2023 | nature.com | Rinki Murphy |Sarah Flanagan |Pål R. Njølstad |Kristin A. Maloney

AbstractMonogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.

Sep 28, 2023 | biomedcommunity.springernature.com | Katharine R Owen |Pål Rasmus Njølstad |Anna L Gloyn |Rinki Murphy

Diagnostic genetic testing for monogenic diabetes has been available since the late 1990’s; however, implementation into clinical practice has been patchy, led by enthusiasts and researchers.  Access to testing is variable between and within countries and remains a missed opportunity to implement precision medicine for diabetes.

Sep 28, 2023 | biomedcommunity.springernature.com | Katharine R Owen |Pål Rasmus Njølstad |Anna L Gloyn |Rinki Murphy

Diagnostic genetic testing for monogenic diabetes has been available since the late 1990’s; however, implementation into clinical practice has been patchy, led by enthusiasts and researchers.  Access to testing is variable between and within countries and remains a missed opportunity to implement precision medicine for diabetes.

Sep 7, 2023 | mdpi.com | Ilva D. Rupenthal |Rinki Murphy |Charisse Y.-J. Kuo

1. IntroductionDiabetic retinopathy (DR) is a common cause of vision loss in patients with diabetes, affecting approximately 22.27% (103.12 million) of the global diabetic population in 2020. This number is expected to increase further, reaching 160.5 million by 2024 [].