Epigenetics of Human Disorders

Summary

This study examines how genetic conditions and environmental exposures can affect our health by studying how these factors affect how our genes work and how our body reads genetic sequences.

This study specifically focuses on looking at epigenetic change. Epigenetic changes are those that sit on top of the DNA. These can affect how genes are read. These changes do not affect DNA code and can be reversible. This study will look at how epigenetic changes on genes are altered within certain genetic conditions or early environmental exposures.

Eligibility

Currently recruiting participants: Yes

Eligible ages: 0 to 99

Accepts healthy participants: Yes

Inclusion criteria:

To be eligible to take part in this study as proband, an individual must meet one of the following criteria:

1)    Known sequence variant(s) in a gene this has a role in epigenetic regulation. You will need a clinical geneticist involved to know this.

2)    Known chromosome deletion or duplication associated with a human disorder. Not all chromosome deletions and duplications are eligible. You will need a clinical geneticist involved to know this.

3) There is history of an environmental exposure that may cause epigenetic changes.
a.    Medications e.g., anti-seizure medications
b.    Diet e.g., ketogenic diet
c.    Assisted reproductive technology (ART)
d.    Alcohol (e.g. fetal exposure)

Exclusion criteria:

If an individual does not meet the inclusion criteria, they will not be eligible.

Participate

Fill out the following form if you want to participate in this research

Method of contact

Collection of personal information
Your personal information is collected under the authority of section 33(c) of the Freedom of Information and Protection of Privacy Act. If you have any questions about the collection or use of this information, please visit our Access to Information page.

Additional information

Contact information

Billie Au pybau@ucalgary.ca Recruitment will require a physician referral, ideally by a clinical geneticist.

Principal investigator:

Ping-Yee Au

Clinical trial:

No

REB-ID:

REB24-0110