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Finding Patients At Risk for Rare Disease

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Medical Publications

ThinkGenetic’s unparalleled, masterclass level of knowledge and expertise provides the foundation to help our clients overcome challenges in rare diseases. Together, our results-oriented solutions, provide a robust library of research on our unique approach. This loop of refinement supports the continuous validation of our state-of-the-art proprietary algorithms. We invite you to read more about the research the ThinkGenetic medical team has conducted in the rare and genetic disease space.

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Development and implementation of an automated predictive scoring system utilizing AI to identify patients at possible increased risk for Aromatic L-amino acid decarboxylase deficiency from Electronic Health Record Data
October 19, 2023
Dawn Laney1, Jessica Dronen2, Ryan Miller3, Jeff Kopesky3, Nadia Ali1, Ami Rosen1, Levi Thompson1, Andy King1, Jonathan Beus4, Rob Hawthorne1, Rossana Sanchez Russo1, Michael Gambello1
Considerations of the emotional and educational needs of adult siblings of individuals with genetic conditions: An exploratory study
October 17, 2023
Jennifer Dykeman
Validation of a suspicion index to identify patients at risk for hereditary angioedema
November 20, 2022
Marissa Shams, MD, Dawn A. Laney, MS, Dave A. Jacob, BS, Jingjing Yang, PhD, Jessica Dronen, MS, Amanda Logue, MD, Ami Rosen, MS, Marc Riedl, MD
Implementation of an automated prediction scoring system to identify patients at possible increased risk for Hereditary Angioedema
February 26, 2022
Marissa Shams, MD, Dawn A. Laney, MS , Dave A. Jacob, BS , Jingjing Yang, PhD, Jessica Dronen, MS , Amanda Logue, MD , Ami Rosen, MS , Marc Riedl, MD
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for ten lysosomal disorders
February 3, 2022
Dawn A. Laney, Jessica Dronen, Dave A. Jacob, Ami Rosen, Caryn Lobel, Jing Jing Yang, Nadia Ali
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for specific genetic conditions
September 22, 2021
Dawn Laney, Jessica Dronen
Determining the disease-specific knowledge gaps in patients, family members, and caregivers living with lysosomal diseases.
February 2, 2019
Georgia Loucopoulos a, Dawn Laney a, Morgan Simmons a, Deepti Babu b, Kathryn Garber a, Cecelia Bellcross a
The future is now: Technology’s impact on the practice of genetic counseling.
March 7, 2018
Erynn S. Gordon, Deepti Babu, Dawn A. Laney
ThinkGenetic: A pilot project to create an educational website/application providing increased access to information on accurate natural history, diagnosis, and treatment information with treatable genetic disorders to healthcare providers
February 6, 2018
Dawn A. Laney, Morgan Simmons

Upcoming Events

Feb 4
February 4, 2024 - February 9, 2024

WORLDSymposium on Lysosomal Disease Research 2024

Mar 12
March 12, 2024 - March 16, 2024

ACMG Annual Clinical Genetics Meeting 2024

Feb 2
February 2, 2025 - February 7, 2025

WORLDSymposium on Lysosomal Disease Research 2025

Mar 18
March 18, 2025 - March 22, 2025

ACMG Annual Clinical Genetics Meeting 2025

Feb 1
February 1, 2026 - February 6, 2026

WORLDSymposium on Lysosomal Disease Research 2026

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