Date: February 28, 2024
Time: 9:00 AM PST / 12:00 PM EST
Almost 1 in 10 people will experience kidney stones at some point in their lives1. Surprisingly, the role of genetics in their development often goes unexplored. Several genetic disorders are known to be the underlying cause of kidney stone formation; in fact, ~15% of patients with nephrolithiasis had a singular genetic cause. When kidney stones are seen in a case, genetic testing can be integral as the clinician moves along the path to diagnosis and aims to distinguish between the various overlapping conditions. Primary hyperoxaluria is a compelling example where genetic testing is the sole method for confirmation and directly dictates patient management.
In this webinar, Julie Hathaway, MSc, CGC, CCGC and David Duong, MD, PhD will explore the link between genetics and kidney stones, with a special focus on primary hyperoxaluria. We will navigate the clues in a patient’s history that may be suggestive of these diagnoses and discuss how genetic testing can inform management strategies—with the aim of enhancing outcomes for patients.
- Review the underlying causes of recurrent kidney stones, with an emphasis on primary hyperoxaluria (PH)
- Identify key clinical features that are suggestive of a diagnosis of primary hyperoxaluria
- Emphasize the role genetic testing has in confirming a diagnosis of specific genetic recurrent stone disease and how it can directly impact patient management
Provided with the support of Novo Nordisk.
Unable to attend live? By registering, you will receive a link to a recording of the webinar to watch at your convenience.
1. Scales CD Jr, Smith AC, Hanley JM, Saigal CS; Urologic Diseases in America Project. Prevalence of kidney stones in the United States. Eur Urol. 2012;62(1):160-165. doi:10.1016/j.eururo.2012.03.052
Julie Hathaway received her masters of science in Genetic Counseling from the University of Toronto. She is board certified in both the US and Canada. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content. Prior to this, she worked as a clinical coordinator and cardiac genetic counselor and worked to establish the multidisciplinary BC Inherited Arrhythmia Program.
Dr. Duong was born in Saigon, Vietnam and arrived with his family to the United States as a war refugee. He grew up in Knoxville, TN, as the eldest of three children. With the help of private scholarships, he earned a B.A. in Molecular Biophysics & Biochemistry and Religious Studies at Yale University. He subsequently earned both an M.D. and a Ph.D. in Molecular Physiology & Biophysics at Vanderbilt University in the NIH-funded Medical Scientist Training Program. He completed his internship in general surgery and residency training in urology at Stanford University. Over the course of his career, he has published numerous scientific articles and presented his work at national meetings. After practicing for 10 years in San Francisco, he moved back to Tennessee to be closer to family. He is now a partner and director at Urology Associates, P.C.
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