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

Lauren Rylaarsdam; Taruna Reddy; Alicia Guemez-Gamboa

doi:10.1016/j.tig.2021.10.010

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

Lauren Rylaarsdam, Taruna Reddy, Alicia Guemez-Gamboa^*

^*Corresponding author for this work

Neuroscience

Research output: Contribution to journal › Short survey › peer-review

4 Scopus citations

Abstract

Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively common, they are often overlooked by the research community. We present the ongoing work of the PACS1 Syndrome Research Foundation as a paradigm for approaching rare disease research.

Original language	English (US)
Pages (from-to)	109-112
Number of pages	4
Journal	Trends in Genetics
Volume	38
Issue number	2
DOIs	https://doi.org/10.1016/j.tig.2021.10.010
State	Published - Feb 2022

ASJC Scopus subject areas

Genetics

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10.1016/j.tig.2021.10.010

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title = "In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development",

abstract = "Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively common, they are often overlooked by the research community. We present the ongoing work of the PACS1 Syndrome Research Foundation as a paradigm for approaching rare disease research.",

author = "Lauren Rylaarsdam and Taruna Reddy and Alicia Guemez-Gamboa",

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

Abstract

ASJC Scopus subject areas

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