A World First for Treating 22q11.2DS

The Dalglish Family 22q Clinic – the first multidisciplinary clinic in the world devoted to adults with 22q11.2 Deletion Syndrome (22q11.2DS) – is now open at UHN. The founding of the clinic was made possible thanks to a landmark donation of $4 million by the W. Garfield Weston Foundation.

22q11.2DS is caused by a missing piece of genetic material from chromosome 22 of a person's DNA. Individuals with 22q11.2DS usually have a variety of health complications, ranging from mild to more serious. Some conditions are developmental in nature and are present at birth or discovered during early childhood, such as congenital heart defects, abnormalities of palate development, speech and language problems and learning difficulties. Other conditions may arise later in life, including thyroid and calcium problems and treatable psychiatric illnesses like anxiety disorders or schizophrenia.

Research is a leading priority for the clinic. "With the support of the Weston Foundation, we can advance our research by integrating with the work of the Peter Munk Cardiac Centre Cardiovascular Biobank," said Dr. Barry Rubin, Medical Director of the Peter Munk Cardiac Centre. "This may give us insights into why some patients are born with heart defects while others go on to develop psychiatric disorders, like schizophrenia."

"We have a rich and longstanding history – spanning nearly two decades – of research into adults with 22q11.2DS in all domains," said Dr. Rubin. "Leading research into basic science and genetics, clinical features and their prevalence in adults, and family and patient concerns has brought forward exciting initiatives that are translating findings directly into clinical practice, such as developing clinical practice guidelines. We will continue these studies and advance world-class research into adults with 22q11.2DS."

The clinic will also have an immediate impact on improving patient care. "Because patients with 22q11.2DS can have psychiatric, endocrine and congenital cardiac conditions, their management is complicated," said Dr. Rubin. "The Dalglish Family 22q Clinic will bring together a diverse group of health care providers in one location to manage patients with 22q11.2DS – this will benefit patients and their families."

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