Caitlin Chang

Investigator and Medical Geneticist, BC Children's Hospital

Academic Affiliations

Clinical Assistant Professor, Department of Medical Genetics, Faculty of Medicine, University of British Columbia

Research Theme

Research Group

Research Areas

Patient-Reported Outcome Measures

Rare Diseases

Syndrome Delineation

Contact

caitlin.chang@cw.bc.ca

Mailing Address

4500 Oak Street
Vancouver, British Columbia
V6H 3N1

Overview: I am interested in expanding human knowledge and understanding the mechanisms that underlie pathology. My specific areas of interest are developmental genetics, dysmorphology, and syndrome delineation. I believe that this is best achieved through collaborations with clinicians and researchers in various disciplines, as well as involvement of patients and their families.
Publications: Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
Clinical Kidney Journal
DOI: 10.1093/ckj/sfae211
2024
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Prenatal Diagnosis
DOI: 10.1002/pd.6232
2022
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.62716
2022
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
American Journal of Medical Genetics Part A
Caitlin A. Chang and Renee Perrier and Kyle C. Kurek and Juvianee Estrada-Veras and Anna Lehman and Stephen Yip and Glenda Hendson and Carol Diamond and Jason W. Pinchot and Jennifer M. Tran and Lisa M. Arkin and Beth A. Drolet and Melanie P. Napier and Sarah A. O'Neill and Tugce B. Balci and Kim M. Keppler-Noreuil
DOI: 10.1002/ajmg.a.62356
09/2021
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights
Pediatric and Developmental Pathology
Slack, J.C. and Bründler, M.-A. and Chang, C.A. and Perrier, R. and Lafay-Cousin, L. and Kurek, K.C.
DOI: 10.1177/1093526620986502
2021
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families
American Journal of Medical Genetics, Part A
Chang, C.A. and Di Donato, N. and Hackmann, K. and Argiropoulos, B. and Ferreira, P. and Innes, A.M. and Thomas, M.A.
DOI: 10.1002/ajmg.a.61898
2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Alharatani R and Ververi A and Beleza-Meireles A and Ji W and Mis E and Patterson QT and Griffin JN and Bhujel N and Chang CA and Dixit A and Konstantino M and Healy C and Hannan S and Liu KJ
DOI: 10.1101/711184
07/2019
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation
JIMD Reports
Chang, C.A. and Wei, X.-C. and Martin, S.R. and Sinasac, D.S. and Al-Hertani, W.
DOI: 10.1002/jmd2.12064
2019
Mechanical stretch upregulates connexin43 in human trabecular meshwork cells
Clinical and Experimental Ophthalmology
Tellios, N. and Feng, M. and Chen, N. and Liu, H. and Tellios, V. and Wang, M. and Li, X. and Chang, C.A. and Hutnik, C.
DOI: 10.1111/ceo.13492
2019
An ACSL4 Hemizygous Intragenic Deletion in a Patient With Childhood Stroke
Pediatric Neurology
Chang, C.A. and Lauzon, J. and Kirton, A. and Argiropoulos, B.
DOI: 10.1016/j.pediatrneurol.2019.06.014
2019
Mechanisms of benzalkonium chloride toxicity in a human trabecular meshwork cell line and the protective role of preservative-free tafluprost
Clinical and Experimental Ophthalmology
Chang, C. and Zhang, A.Q. and Kagan, D.B. and Liu, H. and Hutnik, C.M.L.
DOI: 10.1111/ceo.12390
2015
Isolated Horner Syndrome from an Elongated Styloid Process (Eagle Syndrome)
Journal of Neuro-Ophthalmology
Chang, C.A. and Lin, T. and Fung, K. and Sharma, M. and Fraser, J.A.
DOI: 10.1097/WNO.0000000000000260
2015
Research: EpiSign–CAN Study
I am a local investigator for the EpiSign–CAN study (Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada). The goal of the study is to validate the use of the EpiSign test in the diagnosis of rare genetic diseases. The EpiSign test is a clinically validated method for whole-genome epigenetic testing, comparing methylation changes across a patient’s genome to known epigenetic signatures of key disorders.
Natural History Survey
I am a lead investigator in a collaborative effort with members of the Nager syndrome community to develop a natural history survey based on patient-reported outcome measures.
Precision Medicine Podcasts
I am a lead on an educational study on Precision Medicine podcasts in a Postgraduate Medical Education setting, which I helped to co-develop and produce.

Stories See all

Crafting beating heart cells to deliver personalized treatments for kids with hypertrophic cardiomyopathy

Researchers at BC Children's Hospital Research Institute are working with human-induced pluripotent stem cells to develop safer and more effective treatments for kids with hypertrophic cardiomyopathy.

Continue reading Crafting beating heart cells to deliver personalized treatments for kids with hypertrophic cardiomyopathy

Congratulations CIHR Spring 2024 Project Grant recipients

Congratulations to the BC Children’s Hospital Research Institute (BCCHR) and Women’s Health Research Institute (WHRI) investigators and their teams who were awarded $5 million in funding through the Canadian Institutes of Health Research (CIHR) Spring 2024 Project Grant competition.

Continue reading Congratulations CIHR Spring 2024 Project Grant recipients

Torin Halvorson and Hebah Hussaina awarded Vanier scholarships for immunotherapy and mental health research

BC Children’s Hospital Research Institute (BCCHR) is proud to announce that two of its outstanding research trainees, Torin Halvorson, an MD/PhD student working with the Levings research team, and Hebah Hussaina, a graduate research assistant in the Brussoni Lab, have been awarded the prestigious 2024 Vanier Canada Graduate Scholarship.

Continue reading Torin Halvorson and Hebah Hussaina awarded Vanier scholarships for immunotherapy and mental health research

Collaboration was key to discovery about newborn immunity

Investigators at the BC Children’s Hospital Research Institute have made a finding that could eventually lead to therapeutic interventions for sepsis, lung disease, and other complications in premature newborns.

Continue reading Collaboration was key to discovery about newborn immunity

A safer treatment path for high-risk children to overcome food allergies

New research from BC Children’s Hospital Research Institute and UBC reveals a safe path to overcoming food allergies for older children or building resistance for those who can’t risk consuming allergens. It’s called sublingual immunotherapy (SLIT), and it involves placing small amounts of food allergens under the tongue.

Continue reading A safer treatment path for high-risk children to overcome food allergies

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