In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development
- Resource Type
- Authors
- Taruna Reddy; Lauren Rylaarsdam; Alicia Guemez-Gamboa
- Source
- Trends in genetics : TIG. 38(2)
- Subject
- Rare Diseases
Work (electrical)
Neurodevelopmental Disorders
Research community
Intellectual Disability
Genetics
Vesicular Transport Proteins
Foundation (evidence)
Humans
Engineering ethics
Syndrome
Biology
Rare disease
- Language
- ISSN
- 0168-9525
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.