Welcome from the Center Director
MD: Iran Medical Sciences University
Tel. No.: 0098-21-22180138
Address: Genetics Research Center- University of Social Welfare and Rehabilitation- Kudakyar Alley- Daneshju Blvd.- Evin- Tehran- Iran
Link in google scholar: https://scholar.google.com/citations?hl=en&user=hYN42cYAAAAJ&view_op=list_works
Dr. Kahrizi is Professor of Pediatrics, Clinical Genetics and the head of the Clinical Genetic Division at the GRC. She has led a number of valuable research projects in neuromuscular disorders such as Myotonic Dystrophy, Limb Girdle Muscular dystrophy, Duchene Muscular Dystrophy (DMD) and CongenitalMuscular Dystrophy (CMD). She has also been involved in several other important projects such as Hereditary Hearing Loss (HHL) and Mental Retardation.She is an expert in identifying dysmorphic patients as well as novel syndromes. Recently, she has focused her primary research on the characterization of brain malformations and syndromic microcephalic families.
The characterization of brain malformation in intellectual disability and micro cephalic patients
Masoud Garshasbi, Kimia Kahrizi*, Masoumeh Hosseini, Leila Nouri Vahid, Masoumeh Falah, Sahel Hemmati, Hao Hu,1 Andreas Tzschach, Hans Hilger Ropers, ** Hossein Najmabadi, and Andreas Walter Kuss. A Novel Nonsense Mutation in TUSC3 is Responsible for Non-Syndromic Autosomal Recessive Mental Retardation in a Consanguineous Iranian Family. American Journal of Medical Genetics, 2011.
Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.Am J Med Genet A. 2011 Apr 11.
Borck G, Rehman AU, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42. Am J Hum Genet. 2011 Feb 11;88(2):127-37. Epub 2011 Jan 20.
Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5.
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weißmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.Hum Genet. 2010 Nov 10.
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