Stimulant medication (Biphentin®, Concerta®) are first-line treatment for children and adolescents with attention deficit/hyperactivity disorder (ADHD) but experiences with these treatments vary from child-to-child. Despite helping many youth, some who use stimulants experience minimal to no benefit, while others experience significant side effects. If a personalized prescribing strategy were available to improve the use of stimulants, we could prevent a lot of suffering and negative outcomes. Unlike other medications prescribed for mental health (e.g., antidepressants) that have genomic markers to guide prescribing, we have limited evidence to help similar personalized prescribing of stimulants. This study aims to identify genetic markers associated with stimulant response and side effects that could be used to improve prescribing and shorten the path to wellness for youth with ADHD.

This study has multiple goals, all with the aim to improve outcomes for children with complex immune dysregulation disorders. The immune system fights infection and protects the body from disease-causing changes. Rare genetic changes lead to the immune system inaccurately targeting the body itself, resulting in ‘complex immune dysregulation disorders’. Children with these conditions often experience a ‘diagnostic odyssey’ – a delay in diagnosis and treatment leading to poor health outcomes. We are a team of doctors who care for children with complex immune dysregulation at the Alberta Children’s Hospital. We propose to create a complex immune dysregulation research program with several goals. First, we will improve access to genetic testing to reduce the time to genetic diagnosis. Second, we will perform laboratory tests to examine how the immune system can malfunction in children with complex immune dysregulation. Lastly, we will partner with families to develop methods to accurately assess patient experiences and outcome measures within the cohort. Many new therapies are being developed which can be used in patients with complex immune dysregulation disorders once they are accurately diagnosed. We want to help these children end their diagnostic odyssey and improve access to life-preserving precision therapies.

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.

Depression and anxiety are common and can have serious effects on adolescents and their families. Selective serotonin reuptake inhibitors (SSRIs), often referred to as antidepressants, are commonly prescribed for anxiety and depression. While ~ 150,000 Canadian adolescents take antidepressant medications each year, many do not feel better with medication. Some adolescents can react badly to the medication - a side effect or adverse reaction - and some adolescents do not have an improvement in their depression or anxiety. Prescribing medication is often a ‘trial-and-error’ process, where adolescents take a medication for a month or more to see if it will work. If it does not work, they might repeat this process with another medication. Our team aims to address the trial-and-error approach to prescribing medications. We want to evaluate a new way to match adolescents to an antidepressant medication that is more likely to be safe and beneficial for them. We will enrol adolescents into a study that uses a small amount of their saliva to conduct a single genetic test. The results from this test show whether: 1) their genes might make it harder for their body to process some antidepressant medications (causing unexpected side effects or adverse reactions), or 2) their genes may cause their body to process an antidepressant medication too fast, which means they may not benefit from that medication or may need a higher dose to benefit. We want doctors to use these genetic test results when they make a decision about which medication to prescribe. Because we do not know if this approach will work for adolescents yet, we need to compare it with usual prescribing practices. A random half of the participants in this study will receive a report based on their genetic test and a random half will receive a report based on usual prescribing guidelines. All participants will receive a full pharmacogenetic report at the end of the study.

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.

This study aims to help us learn more about Fabry disease—how it develops over time and how different treatments affect it. The goal of this research is to create a national registry where we can collect key health information about Fabry disease. Fabry disease is a rare genetic condition passed down from parents. It affects about one in 40,000 males in Canada, and up to twice as many females. One of the biggest challenges in studying rare diseases is finding enough patients to understand the condition better. By gathering their medical information in a registry, researchers can get a clearer picture of how the disease progresses and how people respond to treatment. Participants will have their medical records reviewed, and they will also be asked to undergo certain tests and procedures, including blood tests and imaging scans.

This study is looking at how rare changes in the CACNA1D gene might affect health. The CACNA1D gene helps control important functions in the brain, heart, hearing, and more. Some changes in this gene may cause neurological problems, but it's still unclear which ones lead to specific diseases. The purpose of this study is to collect health information from people with rare changes in this gene to understand how these changes might affect their health, especially in terms of neurological problems. We will test how these genetic changes impact the calcium ion channels, which play a key role in body functions.

This study aims to study the health and developmental outcomes of Au-Kline syndrome. Au-Kline syndrome is a genetic condition associated with intellectual disability and malformations. It is caused by mutation in the gene HNRNPK.

Some patients gain weight within the first 3 months on psychiatric medications. This weight gain can affect their physical health and result in diabetes and heart disease. Many start taking psychiatric medication in their youth, and prevention strategies early on can help reduce weight gain and other illnesses. Healthy Active Recovery in Mental Health & Obesity; Network for Youth (HARMONY) is a clinical research program focused on practical strategies to help prevent weight gain in youth with mental illness.

Major depressive disorder (MDD) and Inflammatory Bowel Syndrome are common, life-disrupting and highly recurrent illnesses and can co-occur in patients. Unfortunately, 30–40% of patients do not respond to currently available antidepressant drugs or stop taking them because of unpleasant side effects such as obesity or diabetes. Therefore, there is clearly a need to explore alternative treatment options that are more effective and tolerable for individuals with MDD. Here we assess such an alternative, fecal microbiota transfer.