The Dalglish Family 22q Clinic And Biobank

Rare disease. Source: mcmurryjulie, no changes made, CC0 Creative Commons.

The Dalglish Family 22q Clinic is the world’s first multidisciplinary clinic devoted to adults with 22q11.2 deletion syndrome (22q11.2DS) and their families, located at Toronto General Hospital, Canada. The founding of the clinic was made possible thanks to a landmark donation of $4 million by the W. Garfield Weston Foundation. Numerous health issues, involving many parts of the body, are associated with this genetic condition. Previously, patients and their families had to visit multiple hospitals to see several specialists. The new clinic’s highly trained health-care professionals provide specialized, collaborative and multidisciplinary care to ensure that patients receive seamless and coordinated care, all in one clinic.

22q11.2 Deletion Syndrome (22q11.2DS) also known as DiGeorge syndrome is caused by a deletion of a small section of chromosome 22. Approximately 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person’s parents. The symptoms are variable, but they often include congenital heart problems, recognizable facial features, frequent infections, developmental delay, speech and language problems, learning problems and cleft palate. Associated conditions include kidney problems, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves disease. Later in life, thyroid and calcium problems and treatable psychiatric illnesses like anxiety disorders or schizophrenia may develop.

“Because patients with 22q11.2DS can have psychiatric, endocrine and congenital cardiac conditions, their management is complicated,” … “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.”

“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,” … “This may give us insights into why some patients are born with heart defects while others go on to develop psychiatric disorders, like schizophrenia.” – Dr. Barry Rubin, Medical Director of the Peter Munk Cardiac Centre.

 

Source:

  1. https://www.uhn.ca/PMCC/Research/Pages/22q_biobank.aspx

 

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