The economic cost of caring for people with intellectual disability (ID) is extremely high for families, health systems and society. These costs have been significantly underestimated. We show that when all costs of care for a person with ID are considered, that they average US$172,000 per person per year, accumulating to millions of dollars over […]
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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome (Contributed by Chaker Aloui)
Moyamoya angiopathy is a rare cerebrovascular disorder. Its main clinical manifestations include ischemic and hemorrhagic stroke. A few genes and cytogenetic anomalies have been reported in a limited number of patients. However, the molecular causative anomaly is so far unknown in most moyamoya patients. In this study, we identified a novel association between an Xq28 […]
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy (Contributed by Prof. Luisa Mestroni)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and cause sudden cardiac death. We studied 156 ARVC patients lacking variants in known ARVC genes, and identified two unique FLNCtv variants in two families fulfilling “definite” diagnosis according to the 2010 ARVC Task Force Criteria. Segregation analysis revealed […]
Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang)
We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused congenital vertebral malformations (CVMs) in thoracic and lumber vertebrae. Here we reveal genetic contributions of the reciprocal 16p11.2 BP4-BP5 duplication to cervical CVMs. The spinal assessments in seven duplication carriers showed that four presented characteristics of cervical CVMs. We […]
Gene editing prospects for treating inherited retinal diseases (Contributed by Dr. Alessandra Recchia)
Retinal diseases can result from genetic mutations or combined risk factors, all causing vision impairment progressing to blindness. To date, available therapeutic approaches result in inefficient and expensive treatments. The CRISPR-Cas9 system, an RNA-guided genome editing technology, may be applied to precisely correct or remove disease-related genetic mutations, or induce permanent inhibition of factors promoting […]
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease (Contributed by Dr. Hampton Leonard)
All clinical trials for drugs aimed to stop diseases such as Parkinson’s disease and Alzheimer’s disease have failed, and currently there are no drugs that can stop or slow down these diseases. In parallel, we have gathered a lot of data on how genetics affect the risk for these diseases and their clinical progression. However, […]
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel (Contributed by Dr Jordan Lerner-Ellis)
Given the recent expansion of our clinical genetic testing program in Ontario beyond just BRCA1/2, to a panel of 20 genes, it is relevant to ask whether individuals who were tested for BRCA1/2 alone in the past, but were found to be negative, should be re-tested with the new panel today. In the last two […]
Cardiac valve involvement in ADAR-related type I interferonopathy (Contributed by Dr Nandaki Keshavan)
The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the […]
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY) (Contributed by Dr Elizabeth K Bancroft)
People who are born with a pathogenic (disease-causing) variant in the TP53 gene have a very high lifetime risk of developing cancer – almost 100% for women and 75% for men. The SIGNIFY study, which reported last year, found that whole body Magnetic Resonance Imaging (WB-MRI) in people known to carry a pathogenic variant in […]
NEK11 as a candidate high-penetrance melanoma susceptibility gene (Contributed by Eirini Christodoulou)
Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. Clustering of melanoma in at least two first degree relatives indicates a genetic contribution to the disease. Our general aim was to provide insight into the genetic basis of familial melanoma. We report on the identification of a novel co-segregating […]