Our research
In addition to providing patient care and education, the Dalglish Family 22q Clinic team and our collaborators perform world class research to improve the quality of life for individuals and families affected by 22q.
Our world-first research contributions include scientific papers showing:
- Genome-wide random tandem repeat expansions is a new type of genetic risk for schizophrenia
- Hypertriglyceridemia in young adults with a 22q11.2 microdeletion
- Live birth prevalence of 22q11.2DS based on newborn screening
- First international clinical practice guidelines for adults with 22q11.2DS
- The diagnostic odyssey of 22q11.2DS persists, despite advances in clinical genetic testing over the past 25 years
- Multi-morbidity in adults with 22q11.2DS aged 25-44 years is comparable to that of adults (without 22q11.2DS) in the general population aged >65 years
- First whole genome sequencing studies of 22q11.2DS
- Survival to mid to late adulthood is now the norm for most adults with 22q11.2DS, though significantly less for some individuals with major congenital heart defects, and mortality on average is about 30-40 years earlier in adults with 22q11.2DS than family-based controls
- 22q11.2DS represents a new genetic form of early onset Parkinson’s disease
- Hypocalcemia is a major lifetime feature of 22q11.2DS and if neonatal may affect intellectual outcomes
- Clozapine is an effective treatment of schizophrenia in 22q11.2DS, albeit with increased risk of seizures
- Additional genome-wide rare copy number variants and/or polygenic risk related to common variants increase risk for expression of schizophrenia in 22q11.2DS
- Social decline and prenatal growth factors may increase risk for expression of schizophrenia in 22q11.2DS
- Obesity is a feature of 22q11.2DS in adults, regardless of psychotic illness or its treatment
- Catatonia is a feature of 22q11.2DS
- The 22q11.2 deletion is the main contributor to the risk of scoliosis in individuals with congenital heart defects
For more information about our research, please visit:
- Our current research
- Our recent publications - highlights
- Our publications
- Our research presentations
If you would like to take part in our research studies, please call the Clinic (416) 340-5145 or email us at 22q@uhn.ca. Our patients with 22q and their families make it possible to have new knowledge about 22q! Thank you.