Dr. Kim McBride
Affiliations
Department Head
Cumming School of Medicine, Department of Medical Genetics
Section Head, Clinical Genetics
Alberta Childrens Hospital
Child Health & Wellness Researcher
Alberta Children's Hospital Research Institute
Contact information
Location
Office: HMRB224
I'm looking for...
Research partners
I am open for collaborations in the area of cardiovascular genetics, with a specific interest in identifying collaborators in the area of congenital heart disease.
Study participants
I am looking for individuals with congenital heart disease for participation in research. Please visit:
https://www.ucalgary.ca/research/participate/study/15969/genetics-cardiovascular-disease
Background
Credentials
Pediatrics, Royal College of Physicians and Surgeons of Canada,
Clinical Genetics, American Board of Genetics and Genomics,
Clinical Biochemical Genetics, American Board of Genetics and Genomics,
Educational Background
MD University of Saskatchewan,
Masters Clinical Scientist Training Program, Baylor College of Medicine,
Residency Pediatrics , Mayo Clinic,
Fellowship Clinical Genetics , Baylor College of Medicine,
Fellowship Biochemical Genetics, Baylor College of Medicine,
Research
Areas of Research
The focus of my lab is to understand the causes of congenital heart disease (CHD). We recruit families with CHD, with a an emphasis to find those families with more than one individual with a CHD. Genome sequencing is used to identify potential disease causing variants, with a more recent methods exploring non-coding regions and machine learning analysis to pull out patterns of variants. The lab then looks at the potential functional consequences using cell based assays, including cell lines differentiated from induced pluripotent stem cells, either isogenic or with variants edited into the lines by CRISPR/Cas9 techniques.
Many individuals with rare disorders remain undiagnosed, or travel through a long odyssey to find the cause of their problems. Worse, few rare disorders have specific treatments. I am interested in discovering causes of rare disorders, learning about the disease through observation and natural history studies, and investigating treatments in clinical trials. I have been involved in a variety clinical trials for rare disorders, from preclinical studies, to phase 1 through phase 3 trials, with an emphasis on small molecules and gene transfer studies.
Participation in university strategic initiatives
Publications
- Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD). . Lin H, Ye SQ, Xu ZH, Penaloza JS, Aljuhani M, Vetter T, Zhao MT, McBride KL. Stem Cell Res. 64:102892. (2022)
- Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery. . select Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ, Garg V, White P, McBride KL. PLoS Genet. 18(6):e1010236. (2022)
- Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. . Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V.. Heart Rhythm. 19(4):676-685. (2022)
- Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. . Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS.. Genet Med. 23(11):2122-2137. (2021)
- A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. . Truxal KV, Fu H, McCarty DM, McNally KA, Kunkler KL, Zumberge NA, Martin L, Aylward SC, Alfano LN, Berry KM, Lowes LP, Corridore M, McKee C, McBride KL, Flanigan KM. Mol Genet Metab. 119(3):239-248. (2016)
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