Dr. Hyung-Goo Kim studied chemical engineering at the Korea University and chemistry 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 and his group successfully employed positional cloning strategy 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 were major contributions to their respective areas of human molecular genetics.
After working on the Developmental Genome Anatomy Project (DGAP) under Dr. James Gusella at Harvard Medical School for 5 years, Dr. Kim worked as an Associate Professor at the Medical College of Georgia at the Augusta University from 2013 to 2018.
To identify disease-genes in children with autism and intellectual disability, he has moved to Doha, Qatar. As an Associate Professor at Hamad Bin Khalifa University and a Senior Scientist at Qatar Biomedical Research Institute (QBRI).
Dr. Kim has been working on positional cloning to identify disease genes involved in human developmental disorders for the last 20 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).
In a large family with multiple affected members, he uses haplotype analysis, whereas whole exome/genome sequencing will be applied to sporadic cases with de novo mutations.
He also has been working on the disease gene discovery of autosomal recessive genetic disorders of developmental importance by their homozygous mutations in subjects with consanguineous marriages from Qatar, Mali, Pakistan, Iran, Turkey, Nigeria, Niger, and Tunisia. Enrolled subjects are based upon the presence of consanguineous marriages in conjunction with abnormal phenotypes. Currently his focus is to identify new disease genes involved in autism, intellectual disability, hearing loss/deafness, craniofacial anomalies, microcephaly, polydactyly, blindness, skeletal dysplasia, and dwarfism by using homozygosity mapping combined with whole exome/genome sequencing.
His goal is to understand the genetic underpinnings and molecular pathways involved by identifying novel genes in human developmental disorders. This will not only enable accurate molecular diagnosis and a better prognosis in the patients, but also eventual development of medical and therapeutic interventions in the genetic disorders.
Disruption of neurexin 1 associated with autism specrum disorder. Am J Hum Genet 2008; 82(1):199-207.2008
Mutations in CHD7, Encoding a Chromatin-Remodeling Protein Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 2008; 83(4):511-519.2008
WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 2010; 87(4):465-4792010
Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012; 91(1): 56-72.2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 2012;149(3):525-537.