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Curtis Coughlin II

@coughlinii.bsky.social

Inborn Errors of Metabolism | Rare Diseases | Bioethics Visit us at www.CoughlinLab.org

94 Followers  |  216 Following  |  7 Posts  |  Joined: 06.12.2024  |  1.5344

Latest posts by coughlinii.bsky.social on Bluesky

Excited for the second installment of this collaboration between SIMD and our colleagues at the FDA. Hope to see many of you virtually!

16.05.2025 23:06 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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Register today for the 5/28/25 SIMD Webinar
Regulatory Perspectives: Clinical Outcome Assessments in Clinical Trials for IEM
speakers-
Maura Ruzhnikov, MD, FACMG, FDA
and
Naomi Knoble, PhD, FDA
Register here: us02web.zoom.us/webinar/regi...

#inbornerrorsofmetabolism
#inheritedmetabolicdisorders

16.05.2025 22:28 β€” πŸ‘ 0    πŸ” 1    πŸ’¬ 1    πŸ“Œ 0
Navigating Rare Disease Advocacy: The CurePDE Journey by Moving Medicine Forward In this episode of β€œMoving Medicine Forward” – The Podcast, Christine Eby, Director of Clinical Project Management & Therapeutic Strategy Lead at CTI, Anna Sowa, Chief Mission Officer at CurePDE, Curt...

I was honored to join Anna Sowa, from CurePDE, and Kristy McKay on the CTI podcast. We talk about PDE and Rare Disease Advocacy in general. What a great way to celebrate Rare Disease Day

28.02.2025 21:46 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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Honored to talk with Ben about homocystinuria, genetic testing, and stake holder engagement in science. It was an amazing way to celebrate Rare Disease Day. hcunetworkamerica.org/hcu-podcast/

28.02.2025 21:28 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
It's worth celebrating all the good news in science. Proud to watch Nicole Garcia Tubens (HMGGP PhD student)  present her rotation project on lysine metabolism

It's worth celebrating all the good news in science. Proud to watch Nicole Garcia Tubens (HMGGP PhD student) present her rotation project on lysine metabolism

It's worth celebrating all the good news in science. Proud to watch Nicole Garcia Tubens (HMGGP PhD student) present her rotation project on lysine metabolism

25.02.2025 03:29 β€” πŸ‘ 5    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
Post image 15.02.2025 23:29 β€” πŸ‘ 2    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
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Dietary management is the mainstay of therapy for a significant number of IMD which can lead to disruption of breast feeding but, aside from classic galactosemia, it is at least feasible

read on: doi.org/10.1002/jimd...

#visualabstract #breastfeeding

07.02.2025 09:27 β€” πŸ‘ 5    πŸ” 2    πŸ’¬ 1    πŸ“Œ 0
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The call for proposals is open for the 2026 SIMD meeting in Rio Grande, Puerto Rico. This is a great opportunity to help shape the scientific content of the annual meeting. For more information visit simd.org

25.01.2025 20:09 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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From everyone at the JIMD we're sending Season's Greetings and wishing you all the best for 2025.

25.12.2024 11:45 β€” πŸ‘ 8    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
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We are excited to share our work on newborn screening for #PDE, which was just published in Mol Genet Metab. This is a treatable disorder and a delay in diagnosis and treatment occurs far too often.
#rarediseases

16.12.2024 19:09 β€” πŸ‘ 5    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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