Hakan Cangül, MD

Experience

• 1998 – 2002: NYU Medical Center (USA) Molecular Oncology & Pathology Diagnostic Laboratories

• 2003 – 2008: Uludağ University (TR) Genetic Diagnosis Center Founder/Director

• 2008 – 2012: Birmingham Womens Hospital (UK) West Midlands Regional Genetics Laboratories Rare Disease & Personalised Medicine Section

• 2012 – 2014: Medical Park Göztepe Hastanesi Genetik Tanı Merkezi Nadir Hastalıklar ve Bireysel Tıp Direktörü

• 2014 – 2018: İstanbul Medipol University Diagnostic Center for Genetic Diseases Founder/Director

• 2018 – 2021: Medicana Hospitals Evaluation Centre for Genetic Diseases Founder/Director

DISEASE GENES DISCOVERED BY DR. CANGUL

• Achromatopsia (GNAT2)

• ARC syndrome (VPS33B, VIPAR)

• Beckwith-Wiedemann syndrome (NLRP2)

• Congenital hypothyroidism (SLC26A7, DUOX1)

• Faisalabad histiocytosis/Rosai-Dorfman (SLC29A3)

• Fowler syndrome (FLVCR2)

• Hermansky-Pudlak syndrome (HPS8/BLOC1S3)

• Immunodeficiency syndromes (TRAC, FADD)

• Infantile neuraxonal dystrophy (PLA2G6)

• Infantile parkinsonism (DAT1)

• Martsolf syndrome (RAB3GAP2)

• Meckel-Gruber syndrome (MKS3/TMEM67)

• Multiple pterygium/Fetal akinesia syndrome (CHRNG, RAPSN, DOK7)

• Perlman syndrome (DIS3L2)

• Trichohepaticenteric syndrome (TTC37)

• Warburg MICRO syndrome (RAB3GAP1, RAB2GAP2, WARBM3)