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Genotype Phenotype Study

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Dr. Wendy Chung on Project 8p – Chromosome 8p disorders and deletion

The goal of this study is to identify genes that convey susceptibility to major symptoms in patients with chromosome 8p deletions and duplications.

Columbia Univ Study 

Clinical And Genomic Characterization Of 8p Cytogenomic Disorders

Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK.

Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19.PMID: 34282301

Deletion 8p_distal

  • 14 protein-coding genes within the commonly deleted interval.
  • Only three genes within this interval, DLGAP2, CSMD1 (2 mb), and ANGPT2 are likely identified as causal or driver genes with only 1 copy missing (or in other words missing on 1 chromosome and haploinsufficient)
  • None of the three genes have an OMIM disease association (July 2021).

Summary of Table 1

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.