Publications

 

Leveraging Large-scale Datasets and Single Cell Omics Data to Develop a Polygenic Score for Cisplatin-induced Ototoxicity

Pharmacogenomics
Precision medicine
Hearing loss
Polygenic scores
Single cell technologies
Background: Cisplatin-induced ototoxicity (CIO), characterized by irreversible and progressive bilateral hearing loss, is a prevalent adverse effect of cisplatin…
October 2024
Miao, Deanne Nixie., Wilke, MacKenzie., Pham, John., Ladha, Feryal., Singh, Mansumeet., Arsenio, Janilyn., et al.

 

A Multi-Centre, Tolerability Study of a Cannabidiol-enriched Cannabis Herbal Extract for Chronic Headaches in Adolescents: the CAN-CHA Protocol

Pharmacogenomics
Precision medicine
Introduction: Cannabis products have been used in the management of headaches in adults and may play a role in pediatric chronic pain. Canadian pediatricians report…
September 2024
Chhabra, Manik., Lewis, Evan C., Balshaw, Robert., Stewart, Breanne., Zaslawski, Zina., Lowthian, Trinity., et al.

 

CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Precision medicine
Rare Mendelian disorders
Genome sequencing
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the…
June 2024
Karnebeek, Clara., Tarailo-Graovac, Maja., Leen, René., Meinsma, Rutger., Correard, Solenne., Jansen-Meijer, Judith., et al.

 

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes

Precision medicine
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2-5% of North Americans. FASD is induced by prenatal alcohol…
May 2024
McKay, Leo., Petrelli, Berardino., Pind, Molly., Reynolds, James N., Wintle, Richard F., Chudley, Albert E., et al.

 

Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub‐Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to antiretrovirals, nicotine, and bupropion, among other drugs. However, the full…
March 2024
Drögemöller, Britt I., Twesigomwe, David, Wright, Galen E. B., Adebamowo, Clement, Agongo, Godfred, Boua, Palwendé R., Matshaba, Mogomotsi, Paximadis, Maria, Hazelhurst, Scott, et al.

 

Current Perspectives on Data Sharing and Open Science in Pharmacogenomics

Pharmacogenomics
Precision medicine
GWAS
Open science
Genome-wide association studies (GWAS) summary statistics provide opportunities to accelerate human genomics research. In pharmacogenomics, assembling large, statistically…
March 2024
Miao, Deanne Nixie R., Ladha, Feryal, Lyle, Sarah M., Olivier, Daniel W., Ahmed, Samah, Drögemöller, Britt I.

 

Association Between HLA-DPB1 and Antineutrophil Cytoplasmic Antibody–Associated Vasculitis in Children

Precision medicine
GWAS
Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) is a rare, life-threatening inflammation of blood vessels that can affect both adults and children.…
June 2023
Gibson, Kristen M., Drögemöller, Britt I., Foell, Dirk, Benseler, Susanne M., Graham, Jinko, Hancock, Robert E. W., et al.

 

Characterization of CYP2D6 Pharmacogenetic Variation in Sub‐Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Cytochrome P450 2D6 (CYP2D6) is a key enzyme in drug response owing to its involvement in the metabolism of ~ 25% of clinically prescribed medications. The encoding CYP2D6…
March 2023
Twesigomwe, David, Drögemöller, Britt I., Wright, Galen E.B., Adebamowo, Clement, Agongo, Godfred, Boua, Palwendé R., et al.

 

Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome

Precision medicine
TWAS
Polycystic ovary syndrome (PCOS) is a common endocrine disorder, which is accompanied by a variety of comorbidities including metabolic, reproductive, and psychiatric…
January 2023
Lyle, Sarah M., Ahmed, Samah, Elliott, Jason E., Stener-Victorin, Elisabet, Nachtigal, Mark W., Drögemöller, Britt I.

 

PharmVar GeneFocus: CYP3A5

Pharmacogenomics
Precision medicine
The Pharmacogene Variation Consortium (PharmVar) catalogs star (*) allele nomenclature for the polymorphic human CYP3A5 gene. Genetic variation within the CYP3A5 gene locus…
December 2022
Rodriguez‐Antona, Cristina, Savieo, Jessica L., Lauschke, Volker M., Sangkuhl, Katrin, Drögemöller, Britt I., Wang, Danxin, et al.
No matching items
Back to top