Welcome from the Center Director

Afagh Alavi

PhD            Cell & Molecular Biology, University of Tehran

MSc.           Cell & Molecular Biology, University of Tehran

Assistant Prof.

e-mail: afaghalavi@gmail.com


Tel. No.: 0098-21-22180138

Address: Genetics Research Center- University of Social Welfare and Rehabilitation- Kudakyar Alley- Daneshju Blvd.- Evin- Tehran- Iran

Link in scopus: http://www.scopus.com/authid/detail.url?authorId=19639734300

Link in google scholar: https://scholar.google.com/citations?user=gNsa34UAAAAJ&hl=en


Research Interests:

I interested in neuromuscular disorders such as Amyotrophic lateral sclerosis (ALS), Limb Girdle Muscular dystrophy (LGMD), Facioscapulohumeral muscular dystrophy (FSHD), Pantothenate kinase-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), Hereditary Motor Sensory Neuropathy (HMSN) and Parkinson disease (PD).

I had also been involved in several other important projects such as investigation of genetic of Ichthyosis, Niemann-Pick disease (NPC) and eye diseases (Glaucoma and corneal dystrophies). Recently, I have focused on the genetic of muscular dystrophies.


Current Projects:

  • Genetic analysis of Iranian patients affected to FSHD; facioscapulohumeral muscular dystrophy.
  • Clinical and genetic study of 40 Iranian patients affected to Limb girdle muscular dystrophy type sarcoglycopathy.
  • Genetic analysis of Iranian patients affected to Parkinson disease.


Selected publications:

Rohani M, Fasano A, Haji Akhoundi F, Haeri G, Lang AE,  RahimiBidgoli MM, Javanparast L, Zamani B, Shahidi G, Alavi A*. Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations. Parkinsonism and Related Disorders. 2018, Accepted.

Khani M; Alavi A; Shamshiri H; Zamani B; Hassanpour H; Kazemi MM; Nafissi S; Elahi E. Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. Neurobiol Aging. 2018, Accepted.

Rohani M, Fasano A, Lang AE, Javanparast L, RahimiBidgoli MM, Alavi A*. Pantothenate Kinase Associated Neurodegeneration mimicking Tourette Syndrome. Neurol Sci. 2018 Jun 21. doi: 10.1007/s10072-018-3472-5.

Alavi A, Esmaeili S, Nafissi S, Kahrizi K, Najmabadi H. Genotype and phenotype analysis of 43 Iranian Facioscapulohumeral muscular dystrophy patients; evidence for anticipation. Neuromuscul Disord. 2018 Apr;28(4):303-314. doi: 10.1016/j.nmd.2018.01.001.

Rohani M, Lang AE, Sina F, Elahi E, Fasano A, Hardy J, Bras J, Alavi A*. Action myoclonus and seizure in Kufor-Rakeb syndrome. Movement Disorders Clinical Practice. 2018; 5(2): 195-199. DOI: 10.1002/mdc3.12570. 

Alavi A*, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. J Neurogenet. 2017; 31(3):161-169. DOI: 10.1080/01677063.2017.1346093.

Alavi A, Malakouti Nejad M, Shahidi G, Elahi E. Mutations in C19orf12 and intronic repeat expansions in C9orf72 not observed in Iranian Parkinson’s disease patients. Neurobiol Aging. 2017; 54: 214.e11-214.e12. DOI: 10.1016/j.neurobiolaging.2017.03.020. 

Alavi A, Nafissi S, Rohani M, Zamani B, Sedighi B, Shamshiri H, Fan JB, Ronaghi M, Elahi E. Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients. Neurobiol Aging. 2013; 34(5):1516.e1-8.

Ansari Dezfouli M, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord. 2013; 28(2):228-32.

Alavi A, Nafissi S, Rohani M, Shahidi GA, Zamani B, Shamshiri H, Safari I, Elahi E. Repeat expansion in C9ORF72 is not a major cause of ALS among Iranian patients. Neurobiol Aging. 2014; 35(1): 267.e1e267.e7

Alavi A, Shamshiri H, Nafissi S, Khani M, Klotzle B, Fan J, Steemers F, Elahi E. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry. Neurobiol Aging. 2015; 36: 1710-1716





Genetics Research Center
Iranome: Iranian Genomic Variations

The human genome is highly variable and each individual’s genome contains approximately 3.5 million Single Nucleotide Polymorphisms (SNPs) and 1000 large (>500 bp) Copy Number Variations (CNVs).

Today, large scale projects such as the 1000 Genomes and the International HapMap projects have been implemented on large scale samples from different populations such as Europeans, Americans, East Asians, and sub-Saharan Africans to increase our understanding of the contribution of genomic variations to human diseases. … more