Natural History Study of HNRNP - Related Genetic Disorders


We want to study patients with HNRNP-related disorders. We want to better understand their symptoms and health risks over time. This will help doctors provide better care. We'll look at different factors and test results to predict how the disease might progress. In Calgary, we'll focus on one specific syndrome but also gather data on other related disorders. Additionally, we'll collect samples to find markers that show how severe the disease is. Using the same information, we will be able to predict how the disease will develop. The other reason we are doing this study is because we want to learn more about what causes these disorders. For example, we'll see if different types of genetic changes affect how the disease affects people. We'll also study how the disease affects different parts of the body, which can help with future research. Finally, we'll try to find new disorders linked to these genes that we haven't seen before.


Currently recruiting participants: Yes

Eligible ages: 0 to 90

Inclusion criteria:

1) Individuals with a confirmed molecular diagnosis of an HNRNP-related disorder of any age.
2) Individuals with variants of uncertain significance (VUS) in any HNRNP-related gene as some may become reclassified to pathogenic in the future, and some unclear variants may be associated with emerging/novel disorders.
3) Participants must be proficient in reading and writing in English. We may provide options in other languages in the future and amend inclusion criteria when this becomes available.

Exclusion criteria:

1) Individuals who do not have a diagnosed HNRNP-related disorder or a variant in an HNRNP-related gene.
2) At this time, we will exclude participants who are not able to participate in English.


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

Method of contact

Additional information

Contact information

Billie Au

Principal investigator:

Ping-Yee Au

Clinical trial:




External links

HNRNP Family Foundation