Rare & Genetic Disease Research

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.

Filter by Category

Filter by Publication Date

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