A. Nazlı Başak

Nazlı Başak, born Furgaç, graduated from The German Highschool in Istanbul and was awarded a DAAD scholarship to study in Germany. Nazlı earned her BS degree from the University of Göttingen, Germany, and completed her MSc and PhD theses in molecular biology and genetics at the Max Planck Institute for Experimental Medicine in Göttingen under the scientific guidance of Prof. Friedrich Cramer. After three years of postdoctoral research work and five years of research assistance at the same institute, she returned to Turkey in 1985 to pursue her academic career at Boğaziçi University, where she was promoted to associate professor of molecular biology and genetics in 1986 and to a full professor in 1991.

Dr. Başak’s career at Boğaziçi University started with the establishment of DNA techniques used in the early detection and prevention of hereditary blood disorders. She was instrumental in the establishment of a fully equipped molecular biology and genetics laboratory for the first time in Turkey along with her colleagues at the same department. Her research laboratory at Boğaziçi University, in collaboration with the Turkish Ministry of Health, played a major role in the implication of a comprehensive nation-wide prevention program for the early prenatal diagnosis of thalassemias and abnormal hemoglobins, based on DNA analysis, in Turkey.

In 1990s Nazli Basak’s research interest shifted from monogenic blood diseases towards complex brain disorders. Dr. Başak’s current research agenda focuses on multifactorial disease genetics; with her interest in mechanisms giving rise to neurodegenerative diseases and a special focus on ALS, she was appointed in 2005 as the director of NDAL, established by the prestigious Suna and İnan Kıraç Foundation at Boğaziçi University. NDAL from its beginning has been involved in several national and international collaborations, including two multi-centered European projects, one of which aimed to unravel the cellular mechanisms underlying neuronal death, neuron regeneration and brain plasticity. The other project, geared by researchers from Europe and the Mediterrran, aimed to strenghten the research in the field of hemoglobinopathies and thalassemias with the use of available newly emerging e- infrastructure technologies.

Currently, NDAL is the turkish partner of “Project MinE”, a cutting-edge multinational collaborative effort to solve ALS, in the framework of which 800 Turkish samples from ALS patients and healthy controls have been genome-sequenced. The project aims to “mine” and discover all genes implicated in ALS, using sophisticated tools for evaluating the bioinformatic analysis of the big data obtained. Another multinational project NDAL is involved in, deals with ataxias and is funded by the Wellcome Trust: “Genetic modifiers in the repeat expansion disorders: Common mechanisms and therapeutics”. The project, whose kick-off for NDAL/ Turkey was held in October last year in Istanbul, aims to unravel the genes and their action mechanisms in modifying the ataxia phenotype and age of disease onset. A second more recent collaboration on ataxias, which will start later in 2018, is the NGS ataxia consortium which is based on the EU consortium “PREPARE”. The goal of the NGS consortium is to find novel ataxia genes and prepare therapies for autosomal-recessive ataxias. Exomes of both solved as well as unsolved ataxia patients from all participating laboratories will contribute to the project; NDAL has currently around 300 exome-sequenced ataxia patients, a number which is increasing. The groundbreaking genetic research on ALS and ataxias in collaboration with state-of the-art laboratories world-wide will not only enhance NDAL’s visibility and potential on its ultimate goal in finding therapies for these devastating neurodegenerative disorders, but it will also promote the excellent training of young turkish students at Koç University-KUTTAM.

Selected Publications

  • Assessment of the corticospinal fiber integrity in mirror movement disorder, Solmaz et al, Journal of Clinical Neuroscience, 2018
  • Association of NIPA1 repeat expansions in ALS in a large international cohort, Tazelaar et al, Neurobiology of Aging, 2018
  • CHCHD10 variants in ALS: Where is the evidence? Tazelaar et al, Annals of Neurology, 2018
  • ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. Tunca et al, European Journal of Human Genetics, 2018
  • Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. Hamzeiy et al, Neurodegenerative Disease, 2018
  • Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in two families. Kocoglu et al, Neurology Genetics, 2018
  • A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy. Akcakaya et al. Journal of Neurology, Neurosurgery & Psychiatry, 2017
  • Reconsidering the causality of TIA1 mutations in ALS. Van Der Spek et al, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017.
  • Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2. Auburger et al., Trends in Neurosciences, 2017
  • Project MinE: Study design and pilot analysis of a large scale WGS study in ALS. Van Rheenan et al, European Journal of Human Genetics, 2017
  • Blood RNA biomarkers in prodromal PARK4 and REM sleep behavior disorder show role of complexin-1 loss for risk of Parkinson’s disease. Lahut et al., Disease Models and Mechanisms, 2017
  • Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels. Şen et al, Neurobiology of Disease, 2016
  • Genome wide association analyses identify new risk variants and the genetic architecture of ALS, Van Rheenan et al, Nature Genetics, 2016
  • NEK1 variants confer susceptibility to ALS. Kenna et al, Nature Genet. 2016
  • The distinct genetic pattern of ALS in Turkey and novel mutations. Özoğuz et al, Neurobiology of Aging, 2015
  • The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless leg syndrome. Lahut et al., Neurogenetics. 2014