Goal #1: Advance clinical and translational science

Join NCATS Director Joni Rutter, Ph.D. on Sept. 30, 2024, from 3:00 – 4:00 p.m. ET for an update on the latest happenings at NCATS, including the release of the <a href="https://secure-web.cisco.com/1s_zQWp1hrVzUxLgXQapLKB4YidUGVsqewagyU2t16duaah3DGGFfZIGPmMiQilpMffHpb2zaUFurmb5ZP13_KpgxV33bAbji-RywaIvBdLdsXTUHWbGR_cp8vU1fJPidwXXqI6r4vO4IstVjqsfUx8Lujtc9MYhXQMj6MKEc8ZT8zLVq4XpFIXE7cEkQklQ1ZuKnWBPBE54Hve-1LQalRdWwOH1dWFrvvCrwZHqVa9yiPAPMxlfaspI6gEkGuJ0uDRqeb6FRKp5d7V5Q_hFw-D7Zs1aEX4au80YxSXbCTmyPjyrltFgWn7XAR2CWAjiAIuQfDwBw4LInzMO9cGEw6oel-H3oIjB49L28ebtNZii5_LYNF0z3W7YfIE891gdhcD0ksV9GRgeD5ph40yjDlhD9tmS2uco1VhiAAa4xZYe7qVB0UGbrFAAJES-wyz7i1HyKnlkzpMZgUoDhS7MxNmd2ZGbJ4suDwqU2lYHCaf_UtE-OWvH1TmqzK7Goz8qeAqPPmK5sgfLwYe8PEe2EcquiKKoawqTCtGdgGvHV4pA/https%3A%2F%2Fclick.mailchimp.com%2Ftrack%2Fclick%2F30010842%2Fncats.nih.gov%3Fp%3DeyJzIjoiMWRHbmh0cUJPa3dHLWdmVUxEZlVaT1NWU05jIiwidiI6MSwicCI6IntcInVcIjozMDAxMDg0MixcInZcIjoxLFwidXJsXCI6XCJodHRwczpcXFwvXFxcL25jYXRzLm5paC5nb3ZcXFwvYWJvdXRcXFwvbmNhdHMtb3ZlcnZpZXdcXFwvc3RyYXRlZ2ljLXBsYW5cIixcImlkXCI6XCIxZDNlMzRmNGMyYjU0NTZhOGJlNDUxMjk0NTJjZDQ0M1wiLFwidXJsX2lkc1wiOltcIjg1Nzk1NDFiN2Q3OTY1ODU0YzI5NTAzNTQ5NDdlNGVhMjI0MWVjZWVcIl19In0" target="_blank" rel="noopener noreferrer">Strategic Plan for 2025–2030</a>. Connect with our community and participate in an interactive roundtable as we start to translate this roadmap into action.&nbsp;Register <a href="https://secure-web.cisco.com/1hIEwQHhTgB4kw6OXWGTN3pkHZy0krpq2ZIyWPQ-sF4knsLaq0r8o0wI6Z9LbvkSK8CjSXphLt1v0KqLQYPOPBnOO9mW3gMFBGo2sgjUczCQPA-VQ3sBad8Lu9PrA9FbWa1c9BjRve-AK-mhYWf6GlduC0o8Tn-9vReQWGLFLx3hdFIwNlwa02ijkr-g33O--GVVoACc5l6hxKU-UTMi23ugTTs5MOtM05A-RJHBHjv5K0AfCpJ6tpGobzoJGcdFgiAVj-1zRkNg2kVee9w4zVrYkIIdqgowFZku9icNPwvj4AeKcg-u9e9DrGDvmLZXW9LfR6jnYyu8ZwjXZjyRXWhZAkK22sJG9xImr_xGuGtcafYvm4KgVGMKJgLmoCy6yaorN77AhkDWc2B31VsX1p638SkzVMMl91jNyw_qo8UMFnT6NdbnxHtYemNHk9HCbLSCFLnb6ql1C2P7bvGEFJ_-7-Dv4u9gpyaAWK-hqh361UYMzkKPWBQvIB4MOVekONtWlwzrOfG487aWN-i0NxLzuANN1lKi_FCEp4j2F1Nk/https%3A%2F%2Fclick.mailchimp.com%2Ftrack%2Fclick%2F30010842%2Fnih.zoomgov.com%3Fp%3DeyJzIjoieVNPVEdDUGFXNmh4bDA0YnptNHc4U1I0Qkl3IiwidiI6MSwicCI6IntcInVcIjozMDAxMDg0MixcInZcIjoxLFwidXJsXCI6XCJodHRwczpcXFwvXFxcL25paC56b29tZ292LmNvbVxcXC93ZWJpbmFyXFxcL3JlZ2lzdGVyXFxcL1dOX3JZb05qWGtTUVBXMnQ2M0ZqdkpZaEEjXFxcL3JlZ2lzdHJhdGlvblwiLFwiaWRcIjpcIjFkM2UzNGY0YzJiNTQ1NmE4YmU0NTEyOTQ1MmNkNDQzXCIsXCJ1cmxfaWRzXCI6W1wiMWIyOWNhNmFjMWM1YzhiMDVlMGMzYThhYjVkMDhkMjQ4YTQ3ZGI0M1wiXX0ifQ" target="_blank" rel="noopener noreferrer">here</a>.

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National Center for Advancing Translational Sciences

Announcing Dr. Rutter's Public Roundtable

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Goal #6: Enhance training programs 

Several barriers to rare disease diagnosis make it difficult for patients to receive timely and appropriate treatment for their conditions. These barriers include a lack of treatment options, misdiagnoses of symptoms, and an overall general unawareness of rare conditions as a whole. To address this issue, researchers are turning to artificial intelligence and machine learning as powerful tools to provide potential solutions. Using AI-powered algorithms, doctors can comb through large data sets to find patterns and trends that can accelerate rare disease diagnosis.&nbsp;"The diagnostic delay is roughly 10 to 15 years for these diseases because physicians don't see them very often,” said Katharina "Kat" Schmolly, M.D. “And while waiting for diagnosis, the disease can progress and cause irreversible damage. So, our goal is to diagnose patients earlier and manage their disease appropriately.”&nbsp;While completing her <a href="https://ctsi.ucla.edu/education-and-training/pre-doctoral-programs-and-post-doctoral-programs-tl1/about" target="_blank" rel="noopener noreferrer">CTSI TL1 Summer Fellowship</a> as a medical student at the David Geffen School of Medicine, Dr. Schmolly began conducting research to do just that. Through her TL1 mentor, Simon Beavens, M.D., Ph.D., Dr. Schmolly partnered with a team of researchers at the University of San Francisco (UCSF) and Alnylam Pharmaceuticals to develop an algorithm to identify patients with acute hepatic porphyria (AHP), a rare genetic disease whose symptoms, which include, nausea, vomiting, limb weakness and bouts of chronic pain, overlap with more common diseases…&nbsp;Read the full article <a href="https://ctsi.ucla.edu/news-article/former-ctsi-tl1-fellow-develops-ai-powered-tool-to-help" target="_blank" rel="noopener noreferrer">here</a>.

University of California Los Angeles Clinical and Translational Science Institute

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University of California Los Angeles

Former UCLA CTSI TL1 Fellow, Katharina Schmolly, M.D., Develops AI-powered Tool to Help Detect Rare Diseases

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Using data from community studies based at&nbsp;<a href="https://ctsi.duke.edu/research-support/duke-kannapolis" target="_blank" rel="noopener noreferrer">Duke Kannapolis</a>, researchers found that COVID vaccination was not associated with new onset of APOL1-related kidney disease in African American adults who were at high risk for the condition.&nbsp;The findings were published June 20 by&nbsp;<a href="https://www.kireports.org/article/S2468-0249(24)01799-6/fulltext" target="_blank" rel="noopener noreferrer">Kidney International Reports</a>. The authors concluded that validation of their result in larger cohorts would further support the renal safety of COVID vaccine in people with APOL1 high-risk genotype…&nbsp;Read the full article <a href="https://ctsi.duke.edu/news/covid-vaccination-not-associated-kidney-disease-black-adults-high-risk" target="_blank" rel="noopener noreferrer">here</a>.

Duke Clinical and Translational Science Awards

A study team member enrolls a participant in the Duke APOL1 Study at Duke Kannapolis in 2020.

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Duke University

COVID Vaccination Not Associated with Kidney Disease in Black Adults at High Risk

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Announcing Dr. Rutter's Public Roundtable