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Scientific Publication

The scientific or research articles below are from publications or journals that are relevant for Chromosome 8p disorders. If you have any articles to share with us that is relevant to Project 8p’s mission, please contact us with the article.

Latest Publication

Chromosome engineering to restore euploidy in cells harboring a complex rearrangement of chromosome 8

Sophia N. Lee, Let al.

bioRxiv

Chromosomal rearrangements on the short arm of chromosome 8 cause 8p syndrome, a rare developmental disorder characterized by neurodevelopmental delays....
Read More

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Kourtney Santucci, et al.

Clinical Genetics

Rearrangements of the p-arm of Chromosome 8 can result in a spectrum of neurodevelopmental challenges, along with increased risk of epilepsy, structural brain .…
Read More

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Roseline Vibert, et al.

Clinical Genetics

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum Link to…
Read More

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Commission on…
Read More

Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion

Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion Brain Sciences, July 2020 Link to Online Article
Read More

Clinical and Genomic Characterization of 8p Cytogenomic Disorders

Clinical and Genomic Characterization of 8p Cytogenomic Disorders a Project 8p Funded Study Link to Downloadable PDF
Read More
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Tips For Reading Scientific Papers

Reading a scientific paper is a completely different process than reading about science in a blog or news article. A single paper may take you a long time to read at first. Be patient with yourself. You may need to read the sections out of order, jot down notes, read it multiple times, skim or even skip certain parts, and pause to look up terms in our glossary. As you gain experience, you will learn what approach works for you.

Most research papers will be divided into the following sections:

Abstract

Briefly summarizes the research including why it is important, what was done, and what was found.

Introduction

Contains all the background information needed to understand the broader context of the research.

Method

Clearly outlines how the research was carried out.

Result

Describes what was found in detail, sometimes using tables and figures (graphs, illustrations, or diagrams).

Discussion

Makes connections to other research and interprets the meaning of the results.

Conclusion

Reinforces major takeaways and states their significance beyond the paper.

Not all papers are freely available; you may only be able to see the abstract for some. If you want to read the full text of a restricted paper, Open Access Button is a tool that takes you to a free copy of the research article or helps you ask the author to share the article with you. You can also email the author directly; many are receptive to these requests.

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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.