Sali Farhan

Sali Farhan

Sali Farhan, PhD, is an Assistant Professor in the Department of Neurology and Neurosurgery, and the Department of Human Genetics at McGill University and a Board Certified Clinical Molecular Geneticist specializing in amyotrophic lateral sclerosis (ALS) and neurodegenerative disease genetic testing. She also directs the Farhan Lab at The Neuro.

Farhan joined the Azrieli Centre for Autism Research (ACAR) in 2022.

What are your research goals? 

My research goals are to advance bioinformatics at The Neuro so that applications successfully implemented for one disease can also be applied to advance the biology of other allied or distinct neurological diseases.

Specifically, I study the genomics of neurological diseases and we have developed, implemented, optimized robust bioinformatics workflows, which we share openly with the local and international research community.

What drives your work?

The patient-focused research we conduct is recognized locally and internationally.

Our collaborative spirit is appreciated by our colleagues and a major strength of our group is our enthusiasm to share our data as openly as possible.

This increases research productivity, which ultimately facilitates the rapid development of intervention options.

Consider the field of autism research as a whole; where should we focus our efforts to improve the lives of autistic individuals and their families?

Our patient-partnered approach allows for all individuals seeking care at The Neuro to be as engaged in our research programs as they wish by ensuring they have the knowledge and autonomy in participating in our work and receiving updates on our progress.

Why did you choose to become a part of ACAR?

I am very excited to be a part of a thriving, collaborative, and mission-driven research environment where I can assist my colleagues in ensuring they have access to high quality bioinformatics resources to advance our research at ACAR and The Neuro.



Sali Farhan, PhD, is an Assistant Professor in the Departments of Neurology and Neurosurgery and Human Genetics at McGill University. She is also a Board Certified Clinical Molecular Geneticist.

Her primary research focus is on the genomics of neurological disorders with a central focus on amyotrophic lateral sclerosis and other rare neurological disorders.

Her clinical interest are focused on developing and optimizing comprehensive laboratory tests for genetic conditions, and implementing updated bioinformatics processes to enhance variant interpretation.

She has contributed to the identification of several disease genes using exome sequencing including DNAJC7 in ALS, TMTC3 in intellectual disability and epilepsy, NFS1 in a novel mitochondrial disorder, and several others.

She leverages the use of next generation sequencing technology to identify genomic signatures of neurological diseases.

Sali also collaborates closely with neurobiologists to model mutations observed in human diseases.

Working with local and international clinicians and scientists, her research vision is to bridge clinical genomics with the research lab to translate research findings back into the clinical lab to best serve patients.

Awards and Recognitions 
  • Brain Canada Platform Support Grant
  • The Neuroscience Centre Zurich-McGill University Neurodevelopmental Disorder Research Collaboration
  • The Neuro Community Open Science Initiative Award
  • Global Initiative for Neuropsychiatric Genetics Education in Research Teaching Fellowship
  • RBC Top 25 Canadian Immigrants Awards, Top 75 semi-finalist
  • ALS Canada Tim E. Noël Postdoctoral Fellowship
  • CIHR Frederick Banting and Charles Best CGS Doctoral Award
  • Doctoral Excellence Research Award
Research Areas

Genomics, bioinformatics, neurological diseases

List of Selected Publications

Farhan, SMK., Murphy, LM., Robinson, JF., Wang, J., P., Siu, VM., Rupar, CA., Prasad, AN., and Hegele, RA. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia. 2014; 55(9):e106-111.

Farhan, SMK., Wang, J., Robinson, JF., Prasad, AN., Rupar, CA., Siu, VM., FORGE Canada Consortium, and Hegele, RA. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015; 52(10):666-675.

Badalato, L., Farhan, SMK., Dilliot, AA., Care4Rare Canada Consortium, Bulman, DE., Hegele, RA., and Goobie, S. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Am J Med Genet A. 2017;173(1):183-189.

Farhan, SMK., Nixon, KCJ, Edwards, T., Everest, M., Long, S., Segal, D., Knip, MJ., Arts, HE., Wang, J., Robinson, JF., Rupar, CA., Siu, VM., Poulter, MO., FORGE Canada Consortium, Hegele, RA., Kramer, JM. TMTC3 is a synaptic protein involved in seizure susceptibility and intellectual disability. Hum Mol Genet. 2017; 26(21):4278-4289.

Yang, JH., Friederich, MW., Ellsworth, KA., Frederick, A., Foreman, E., Malicki, D., Dimmock, D., Lenberg, J., Wong, T., Karp, N., Yu, AC., Rupar, CA., Hegele, RA., Prasad, C., Manickam, M., Crist, E., Koboldt, DC., Harvey, H., Sattar, S., Farhan, SMK., et al. Expanding the phenotypic and molecular spectrum of NFS1-related disorders: A recurrent missense variant in NFS1 causes functional deficiencies in oxidative phosphorylation. Human Mutation. 2022. In Press.

Bayne, AN., Dong, J., Amiri, S., Farhan, SMK., Tremp, JF. MTSviewer: a database for visualizing cleavage sites, mutations, and structures of mitochondrial targeting sequences. Submitted. MedRxiv.


Email: sali.farhan [at]

Twitter: @smk_farhan


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The Neuro (Montreal Neurological Institute-Hospital) is a bilingual academic healthcare institution. We are a McGill research and teaching institute; delivering high-quality patient care, as part of the Neuroscience Mission of the McGill University Health Centre. We are proud to be a Killam Institution, supported by the Killam Trusts.



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