CHASERR

CHASERR is a long non-coding RNA upstream of the CHD2 gene. While CHASERR does not make any protein, deletion of CHASERR causes its neighboring gene CHD2 to be overexpressed, leading to excess CHD2 protein levels. This dysregulation contributes to abnormal brain development.

Deletion of one copy of the CHASERR gene has been identified as the genetic cause of the associated disorder. This loss of function leads to overexpression of CHD2 and resulting neurological symptoms.

There is no formally defined condition name yet for CHASERR-related neurodevelopmental disorder.

• Inability to talk
• Inability to walk
• Severe hypotonia (loss of muscle tone)
• Global developmental delay
• Intellectual disability
• Facial dysmorphisms

A collaborative research effort involving Northwestern University identified CHASERR deletions as the cause of a severe neurodevelopmental disorder.
Read the study in NEJM (2024)

Additional studies using patient-derived cells confirmed that CHASERR deletions lead to CHD2 overexpression, encephalopathy, cortical atrophy, and other structural brain abnormalities.
Read more

Ulitsky I, et al.
“Little‑Studied RNA Might Be Key to Regulating Genetic Disorders…” — This research was featured in Nature’s C&EN and covered by Northwestern’s research news.
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Ganesh VS, Riquin K, et al.
Novel syndromic neurodevelopmental disorder caused by de novo CHASERR deletion. NEJM. 2024.
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Rom A, Melamed L, Gil N, et al.
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability. Nature Communications. 2019;10:5092.
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Detection of CHASERR deletions can be achieved through whole genome sequencing, as protein-coding and exon-only tests may miss the region.

There are no clinical trials currently available for CHASERR-related disorders.

There are currently no known patient advocacy organizations specifically for CHASERR-related conditions.