In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development

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Updated: Oct 11, 2025

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Lauren Rylaarsdam1, Taruna Reddy2, Alicia Guemez-Gamboa3

  • 1Department of Neuroscience, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA; Northwestern University Interdepartmental Neuroscience (NUIN) Graduate Program, Northwestern University, Chicago, IL, USA.

Trends in Genetics : TIG
|November 27, 2021
PubMed

Insights

Rare diseases impact millions globally, yet research is often limited. This foundation

Area of Science:

  • Genetics and rare disease research

Background:

  • Rare diseases affect nearly 400 million people worldwide.
  • These conditions collectively represent a significant global health burden.
  • Rare diseases are frequently overlooked by the broader research community.

Purpose of the Study:

  • To present the PACS1 Syndrome Research Foundation's work.
  • To offer a model for rare disease research initiatives.

Main Methods:

  • Ongoing research efforts by the PACS1 Syndrome Research Foundation.
  • Developing a paradigm for rare disease research approaches.

Main Results:

  • Demonstrating a structured approach to rare disease research.
  • Highlighting the foundation's progress in PACS1 syndrome research.

Conclusions:

  • The PACS1 Syndrome Research Foundation serves as a model for rare disease research.
  • Continued focus and collaboration are crucial for advancing rare disease understanding and treatment.

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