Dr. Hyung-Goo Kim | Hamad Bin Khalifa University
Hamad Bin Khalifa University


Dr. Hyung-Goo Kim

Dr. Hyung-Goo Kim

Senior Scientist
Neurological Disorders Research Center
Qatar Biomedical Research Institute

College of Health and Life Sciences


Dr. Hyung-Goo Kim studied chemistry (BS) and biochemistry (MS) at the University of Goettingen in Germany.  He received his PhD at the Free University of Berlin in conjunction with Max-Planck-Institute for Molecular Genetics. In the past, Dr. Kim successfully employed positional cloning and candidate gene approach to identify disease genes. This resulted in the identification of 4 novel disease genes. NRXN1 for autism, and PHF21A for intellectual disability combined with craniofacial anomalies. He also identified the two novel disease genes, WDR11 and CHD7, in Kallmann syndrome characterized by anosmia and delayed puberty. Each of these was a major contribution to its respective area of human molecular genetics.

After working on Developmental Genome Anatomy Project (DGAP) under Dr. James Gusella at Harvard Medical School for 5 years, he was an Associate Professor at the Medical College of Georgia at the Augusta University in the US from 2013 to 2018. To identify disease genes in neurodevelopmental disorders including autism and intellectual disability, he has moved to Middle East. His current focus is identifying new disease genes in the consanguineous countries including Qatar and Oman to elucidate their underlying mechanism for accurate molecular diagnosis, a better prognosis, and eventual development of medical and therapeutic interventions. 

Dr. Kim has been working on positional cloning and next generation sequencing to identify disease genes involved in human developmental disorders for the last 25 years. As a gene hunter, he takes advantage of naturally occurring chromosomal rearrangements such as balanced translocations and balanced inversions as well as submicroscopic small genomic deletions and duplications to map the autosomal dominant or X-linked recessive disease genes including autism, intellectual disability, Tourette syndrome, dyslexia, language/speech delay, epilepsy, craniofacial anomalies, and body integrity identity disorder (BIID).


Research Interests

  • Disease gene discovery in autosomal dominant and recessive neurodevelopmental disorders including syndromic and non-syndromic autism and intellectual disability using positional cloning and next generation sequencing.
  • Understanding the genetic underpinnings and molecular pathways involved by identifying novel genes in human developmental disorders.
  • Identification of disease genes and underlying mechanism in body integrity identity disorder (BIID).
  • Development of high-sensitivity DNA genosensor detecting low-dose radiation.

Selected Publications