Alberta Vision Net brings together researchers at the Universities of Alberta and Calgary to advance the understanding and treatment of ocular disease. With investigators from more than ten Departments, our network integrates ophthalmology and molecular biology with the following major objectives:
- To foster fundamental and translational research to improve understanding and treatment of disease
- Explore high impact novel research ideas, that offer the realistic prospect of fresh therapeutic approaches
- Provide a rich cross-disciplinary environment and so offer outstanding training for fellows, residents and students
The transcription factor FOXC1 is a major cause of the autosomal dominant genetic disease Axenfeld-Rieger syndrome (ARS). Most ARS patients suffer from early-onset glaucoma which eventually leads to blindness; however extra-ocular phenotypes are also common. Cardiac septal defects and valve insufficiency arises in 10-15% of FOXC1-associated ARS cases but the etiology is poorly understood. Chrystal et al. have now uncovered a possible mechanism for this cardiac defect – improper left-right patterning of the organ.
Recently published in the journal Genes, this research demonstrates that foxc1 is necessary for correct situs (left-right asymmetry) of the heart and the gut within zebrafish. Mutation of foxc1 leads to a loss of expression of the key left-right patterning gene lefty2 during a critical time in heart development. Consistently, mutation of LEFTY2 in humans is associated with congenital heart defects. This work enforces the importance of checking cardiac health in ARS sufferers, especially where FOXC1 mutations are identified.Read More
Beyond studying eyes, some of our AVN labs also pay attention to surrounding structures. Congratulations to Pranidhi Baddam (PhD Student) from the Graf lab for recent publications in the Journal of Anatomy and Disease Model and Mechanisms. Her work characterizes normal maturation of nasal septum cartilage, and the abnormal midfacial development in mice with neural crest-specific deletion of Bmp7. Credit also to Tiffany Kung and Daniela Roth as students in the Graf lab who contributed to the work.
Baddam P, Kung T, Adesida AB, Graf D. Histological and molecular characterization of the growing nasal septum in mice. J Anat. 2021 Mar;238(3):751-764. doi: 10.1111/joa.13332. Epub 2020 Oct 12. PMID: 33043993; PMCID: PMC7855085.
Baddam P, Biancardi V, Roth DM, Eaton F, Thereza-Bussolaro C, Mandal R, Wishart DS, Barr A, MacLean J, Flores-Mir C, Pagliardini S, Graf D. Neural crest-specific deletion of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction, and disordered breathing modelling Obstructive Sleep Apnea. Dis Model Mech. 2021 Jan 11:dmm.047738. doi: 10.1242/dmm.047738. Epub ahead of print. PMID: 33431521.Read More
The recent special issue of the American Journal of Medical Genetics; Seminar in Medical Genetics (Volume 184, Issue 3) includes contributions from four AVN labs: Waskiewicz, Lehmann, Walter, and MacDonald. Check out the issue to learn more about ocular coloboma, retinal dystrophies, and more: AJMG Ocular GeneticsRead More
Alberta Vision Net is made possible by generous support from the University of Alberta Faculty of Medicine and Dentistry, and the Royal Alexandra Hospital Foundation.