Jessica Zambonin

Investigator and Clinical 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

Contact

jessica.zambonin@cw.bc.ca

Mailing Address

4500 Oak Street
Vancouver, British Columbia
V6H 3N1

Overview: It is clear that advances in genetic testing have been transformative for the field of Medical Genetics in the last decade; however, service delivery models have not adapted, leading to an imbalance between knowledge acquisition and translation to clinical practice. I have an evolving research interest in the implementation of genomic sequencing into the health care system through efficient and sustainable service delivery models, for the benefits of patients living with rare disease. Additionally, as a clinical geneticist, I am interested in the identification and characterization of rare genetic conditions to improve patient care.
Publications: The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
Julia Handra and Adrienne Elbert and Nour Gazzaz and Ashley Moller-Hansen and Stephanie Hyunh and Hyun Kyung Lee and Pierre Boerkoel and Emily Alderman and Erin Anderson and Lorne Clarke and Sara Hamilton and Ronnalea Hamman and Shevaun Hughes and Simon Ip and Sylvie Langlois and Mary Lee and Laura Li and Frannie Mackenzie and Millan S. Patel and Leah M. Prentice and Karan Sangha and Laura Sato and Kimberly Seath and Margaret Seppelt and Anne Swenerton and Lynn Warnock and Jessica L. Zambonin and Cornelius F. Boerkoel and Hui-Lin Chin and Linlea Armstrong
DOI: 10.3389/fmed.2022.1071348
01/2023
Further clinical delineation of microcephaly-capillary malformation syndrome
American Journal of Medical Genetics Part A
Julianne K. Postma and Jessica L. Zambonin and Ebtissal Khouj and Suad Alyamani and John M. Graham, Jr and Fowzan S. Alkuraya and Stephen Kundell and Melissa T. Carter
DOI: 10.1002/ajmg.a.62936
11/2022
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
American journal of human genetics
DOI: 10.1016/j.ajhg.2021.10.002
PubMed: 34715011
10/2021
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Journal of inherited metabolic disease
DOI: 10.1002/jimd.12278
PubMed: 32588908
06/2020
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
Neurogenetics
Zambonin, J.L. and Dyment, D.A. and Xi, Y. and Lamont, R.E. and Hartley, T. and Miller, E. and Kerr, M. and Boycott, K.M. and Parboosingh, J.S. and Venkateswaran, S.
DOI: 10.1007/s10048-017-0534-4
2018
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL and Bellomo A and Ben-Pazi H and Everman DB and Frazer LM and Geraghty MT and Harper AD and Jones JR and Kamien B and Kernohan K and Koenig MK and Lines M and Palmer EE and Richardson R and Segel R and Tarnopolsky M and Vanstone JR and Gibbons M and Collins A and Boycott KM
DOI: 10.1186/s13023-017-0672-7
PubMed: 28659154
06/2017
Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.
Zambonin JL and Pickett GE
DOI: 10.1017/cjn.2015.35
PubMed: 26063295
07/2015
Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Lax NZ and Campbell GR and Reeve AK and Ohno N and Zambonin J and Blakely EL and Taylor RW and Bonilla E and Tanji K and DiMauro S and Jaros E and Lassmann H and Turnbull DM and Mahad DJ
DOI: 10.1001/archneurol.2011.2167
PubMed: 22491194
04/2012
Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.
Zambonin JL and Zhao C and Ohno N and Campbell GR and Engeham S and Ziabreva I and Schwarz N and Lee SE and Frischer JM and Turnbull DM and Trapp BD and Lassmann H and Franklin RJ and Mahad DJ
DOI: 10.1093/brain/awr110
PubMed: 21705418
07/2011
Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes.
Ziabreva I and Campbell G and Rist J and Zambonin J and Rorbach J and Wydro MM and Lassmann H and Franklin RJ and Mahad D
DOI: 10.1002/glia.21052
PubMed: 20665559
11/2010
Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons.
Zambonin J and Engeham S and Campbell GR and Ziabreva I and Beadle NE and Taylor RW and Mahad DJ
DOI: 10.1016/j.jneumeth.2010.07.022
PubMed: 20659500
09/2010
Research: Angelman Syndrome Natural History Study
I am a co-investigator in a collaborative effort with members of the Angelman Syndrome clinic at BC Children's Hospital. This study aims to understand the progression of symptoms associated with Angelman syndrome throughout and individual's lifetime.

Stories See all

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

Government of Canada invests $20 million to improve health outcomes of children living with rare diseases

The Government of Canada is providing $20 million over five years for the creation of RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network. This national network, of which BCCHR will be a part, will support national and international clinical trials to advance discoveries, enable better prevention, diagnosis, and treatments, to improve health outcomes for children and adolescents affected by rare diseases.

Continue reading Government of Canada invests $20 million to improve health outcomes of children living with rare diseases

New study shows the potential of new treatment strategies for most common childhood cancer

Researchers made a key discovery about how childhood acute lymphoblastic leukemia (ALL) evolves and responds to targeted therapies suggesting that clinicians can start looking for precision treatments for a child’s cancer immediately after diagnosis, rather than waiting until the cancer has come back.

Continue reading New study shows the potential of new treatment strategies for most common childhood cancer

Study reveals surprising link between malnutrition and rising antibiotic resistance

A new study by Dr. Paula Littlejohn discovers the connection between a lack of crucial micronutrients and the composition of gut microbiomes that could increase antibiotic resistance.

Continue reading Study reveals surprising link between malnutrition and rising antibiotic resistance

Donate to Research

We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.

Give Now