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Sali Farhan, D.Phil.

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Biography
Western University, London, Ontario, CanadaPhD, with distinction08/2016Biochemistry and Genetics
Western University, London, Ontario, CanadaBSc, honors04/2012Genetics
2016 - 2019
ALS Canada Tim E. Noël Postdoctoral Fellowship
2016 - 2016
Canadian Institutes of Health Research CGS Michael Smith Foreign Study Supplement award
2015 - 2016
Doctoral Excellence Research Award
2015 - 2016
Ontario Graduate Scholarship
2015 - 2016
Canadian Institutes of Health Research, Frederick Banting and Charles Best CGS Doctoral Award
2014 - 2015
Ontario Graduate Scholarship
2012 - 2014
Canadian Institutes of Health Research, Research Fellowship
2016 - 2016
Western University PSAC Local 610 Academic Achievement Scholarship
2015 - 2015
5th International Research Workshop on FTD in ALS, 1st place presentation award
2015 - 2015
Western University PSAC Local 610 Academic Achievement Scholarship
2014 - 2014
Schulich Norman E. Nixon Marie Ramo Nixon Award
2014 - 2014
Schulich Scholarship for Medical Research
2014 - 2014
Department of Pediatrics Research Day, Best Poster Presentation in the Basic Sciences
2013 - 2013
CIHR Institute of Human Development, Child and Youth Health Travel Award
2013 - 2013
Schulich Norman E. Nixon Marie Ramo Nixon Award
2013 - 2013
Department of Medicine Research Day, Best Poster Presentation
2013 - 2013
2nd Annual Canadian Human and Statistical Genetics Meeting Best Oral and Poster Presentation Award
2013 - 2013
Western University PSAC Local 610 Community Scholarship
2013 - 2013
LHSC Clinical Investigation and Metabolic Disease Best Poster Award
2012 - 2016
Western Graduate Research Scholarship
2011 - 2012
Lynn Fordham Award in Science and Engineering
2011 - 2011
Biology Graduate Research Forum Excellence in Scientific Communication, best poster award
2008 - 2009
Western University Scholarship of Distinction
2008 - 2009
Canadian Millennium Local Excellence Scholarship
2008 - 2008
Rotary Annual Citizenship Award

Overview
I am currently a Postdoctoral Research Fellow within the Analytic and Translational Genetics Unit at Massachusetts General Hospital and the Broad Institute of MIT and Harvard. I completed my PhD in Genetics and Biochemistry at Western University in Canada. I have extensive experience in human genetics primarily next generation sequencing data analysis and functional genomics. My interests include studying and understanding the genetic determinants of neurological diseases, with a central focus on the neurodegenerative diseases, amyotrophic lateral sclerosis and frontotemporal dementia. I also have a special interest in working with patients, clinicians, industry and basic scientists to translate research findings into clinically relevant outcomes. In addition to my research interests, I enjoy participating in leadership, teaching, and mentorship forums.

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Volkening K, Farhan SMK, Kao J, Leystra-Lantz C, Ang LC, McIntyre A, Wang J, Hegele RA, Strong MJ. Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. Mol Cell Biochem. 2021 Mar 04. PMID: 33661429.
    Citations:    Fields:    
  2. Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A, Veldink JH, Kirby J, Snyder MP, Shaw PJ. Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. Cell Rep. 2021 Feb 02; 34(5):108730. PMID: 33535055.
    Citations:    Fields:    
  3. Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A, Veldink JH, Kirby J, Snyder MP, Shaw PJ. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Rep. 2020 12 01; 33(9):108456. PMID: 33264630.
    Citations:    Fields:    
  4. Petrozziello T, Mills AN, Farhan SMK, Mueller KA, Granucci EJ, Glajch KE, Chan J, Chew S, Berry JD, Sadri-Vakili G. Lipocalin-2 is increased in amyotrophic lateral sclerosis. Muscle Nerve. 2020 08; 62(2):272-283. PMID: 32369618.
    Citations:    Fields:    Translation:HumansCells
  5. Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, Mordes DA, Ghosh S, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2020 Feb; 23(2):295. PMID: 31857710.
    Citations: 2     Fields:    
  6. Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, Levy R, Beck G, Ainbinder E, Farhan SMK, Lennox KA, Bode NM, Behlke MA, Möller T, Saxena S, Moreno CAM, Costaguta G, van Eijk KR, Phatnani H, Al-Chalabi A, Basak AN, van den Berg LH, Hardiman O, Landers JE, Mora JS, Morrison KE, Shaw PJ, Veldink JH, Pfaff SL, Yizhar O, Gross C, Brown RH, Ravits JM, Harms MB, Miller TM, Hornstein E. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Sci Transl Med. 2019 12 18; 11(523). PMID: 31852800.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  7. Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 12; 22(12):1966-1974. PMID: 31768050.
    Citations: 18     Fields:    Translation:Humans
  8. Lackie RE, Razzaq AR, Farhan SMK, Qiu LR, Moshitzky G, Beraldo FH, Lopes MH, Maciejewski A, Gros R, Fan J, Choy WY, Greenberg DS, Martins VR, Duennwald ML, Lerch JP, Soreq H, Prado VF, Prado MAM. Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co-chaperone STI1. J Neurochem. 2020 06; 153(6):727-758. PMID: 31562773.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  9. Dilliott AA, Evans EC, Farhan SMK, Ghani M, Sato C, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Black SE, Finger E, Frank A, Freedman M, Hassan A, Lang A, Shoesmith CL, Swartz RH, Tang-Wai D, Tartaglia MC, Turnbull J, Zinman L, Hegele RA. Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative. Can J Neurol Sci. 2019 09; 46(5):491-498. PMID: 31217043.
    Citations: 1     Fields:    Translation:Humans
  10. Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Hum Genomics. 2019 04 16; 13(1):19. PMID: 30992063.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  11. Dilliott AA, Farhan SMK, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Lang A, Tartaglia C, Finger E, Zinman L, Turnbull J, Freedman M, Swartz R, Black SE, Hegele RA. Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease. J Vis Exp. 2018 04 04; (134). PMID: 29683450.
    Citations: 5     Fields:    Translation:Humans
  12. Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM, Poulter MO, Hegele RA, Kramer JM. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. Hum Mol Genet. 2017 11 01; 26(21):4278-4289. PMID: 28973161.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  13. Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. . 2018 Jan; 177(1):75-85. PMID: 29080331.
    Citations: 5     Translation:Humans
  14. Sali MK Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Strong. ARHGEF28 p. Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion. Neurology Genetics. 2017; 3(5):e190.
  15. Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ. ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion. Neurol Genet. 2017 Oct; 3(5):e190. PMID: 28971145.
    Citations: 2     
  16. Sali MK Farhan, Kevin CJ Nixon, Michelle Everest, Tara N Edwards, Shirley Long, Dmitri Segal, Maria J Knip, Heleen H Arts, Rana Chakrabarti, Jian Wang, John F Robinson, Donald Lee, Seyed M Mirsattari, C Anthony Rupar, Victoria M Siu, Michael O Poulter, Robert A Hegele, Jamie M Kramer. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. Human Molecular Genetics. 2017; (ddx316):1–12.
  17. Farhan SM, Bartha R, Black SE, Corbett D, Finger E, Freedman M, Greenberg B, Grimes DA, Hegele RA, Hudson C, Kleinstiver PW, Lang AE, Masellis M, McIlroy WE, McLaughlin PM, Montero-Odasso M, Munoz DG, Munoz DP, Strother S, Swartz RH, Symons S, Tartaglia MC, Zinman L, Strong MJ. The Ontario Neurodegenerative Disease Research Initiative (ONDRI). Can J Neurol Sci. 2017 Mar; 44(2):196-202. PMID: 28003035.
    Citations: 16     Fields:    Translation:Humans
  18. Badalato L, Farhan SM, Dilliott AA, Bulman DE, Hegele RA, Goobie SL. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. . 2017 Jan; 173(1):183-189. PMID: 27991736.
    Citations: 7     Translation:HumansCells
  19. Sali MK Farhan, Allison A Dilliott, Mahdi Ghani, Christine Sato, Eric Liang, Ming Zhang, Adam D McIntyre, Henian Cao, Lemuel Racacho, John F Robinson, Michael J Strong, Mario Masellis, Peter St George-hyslop, Dennis E Bulman, Ekaterina Rogaeva, Robert A Hegele. npj Genom Med. 2016. The ONDRISeq panel: custom designed next generation sequencing of genes related to neurodegeneration,. The ONDRISeq panel: custom designed next generation sequencing of genes related to neurodegeneration. 2016; doi:10.1038/npjgenmed.2016.32.
  20. Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA. The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration. NPJ Genom Med. 2016; 1:16032. PMID: 29263818.
    Citations: 7     
  21. L Badalato, SMK Farhan, AA Dilliott, RA Hegele, S Goobie. MG-112 A KMT2D mutation segregating in a family presenting with autosomal dominant choanal atresia reinforces the kabuki/charge connexion. J Med Genet 2015;52:A5 doi:10.1136/jmedg. 2015.
  22. L Badalato, SMK Farhan, AA Dilliott, RA Hegele, S Goobie. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. A KMT2D mutation segregating in a family presenting with autosomal dominant choanal atresia reinforces the kabuki/charge connexion. Journal of Medical Genetics. 2015; 52.
  23. Farhan, SMK. Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways. Clinical genetics. Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways. Clinical genetics. 2015; 88(4):339-340..
  24. Farhan SM, Hegele RA. Trial Watch: Antisenses working overtime in lipids. Nat Rev Endocrinol. 2015 Oct; 11(10):574-6. PMID: 26303603.
    Citations:    Fields:    Translation:Humans
  25. Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM, 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 Oct; 52(10):666-75. PMID: 26246518.
    Citations: 7     Fields:    Translation:Humans
  26. Farhan SM, Robinson JF, McIntyre AD, Marrosu MG, Ticca AF, Loddo S, Carboni N, Brancati F, Hegele RA. A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can J Cardiol. 2014 Dec; 30(12):1649-54. PMID: 25475467.
    Citations: 23     Fields:    Translation:Humans
  27. Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN, Hegele RA. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia. 2014 Sep; 55(9):e106-11. PMID: 25060828.
    Citations: 7     Fields:    Translation:HumansCells
  28. Farhan SM, Hegele RA. Exome sequencing: new insights into lipoprotein disorders. Curr Cardiol Rep. 2014 Jul; 16(7):507. PMID: 24893940.
    Citations: 8     Fields:    Translation:Humans
  29. Farhan SM, Hegele RA. Sequencing: the next generation--what is the role of whole-exome sequencing in the diagnosis of familial cardiovascular diseases? Can J Cardiol. 2014 Feb; 30(2):152-4. PMID: 24461915.
    Citations: 2     Fields:    Translation:Humans
  30. Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. Mol Genet Genomic Med. 2014 Jan; 2(1):73-80. PMID: 24498631.
    Citations: 19     Fields:    
  31. Farhan SM, Hegele RA. Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease. Can J Cardiol. 2013 Jan; 29(1):18-22. PMID: 23200093.
    Citations: 3     Fields:    Translation:Humans
  32. AN Prasad, SMK Farhan. Pellock's Pediatric Epilepsy: Diagnosis and Therapy. Chapter 8: Exploring the Epilepsiome II: Approaching the Complex Epilepsies. 2016. 163-174.
  33. SMK Farhan, AN Prasad. Pellock's Pediatric Epilepsy: Diagnosis and Therapy. Chapter 7: Exploring the Epilepsiome I: Genetics of Age dependent Epileptic Encephalopathies. 2016. 143-161.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.