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).
Kim HG*, Kishikawa S* (*equally contributed), Higgins A, Seong IS, Donovan D, Shen Y, Lally E, Weiss L, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Noens I, Pauls D, Daly MJ, MacDonald ME, Morton CC, Quad BJ, Gusella JF. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82(1):199-207.
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC* (2008). Mutations in CHD7, Encoding a Chromatin-Remodeling Protein Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 83(4):511-519.
Kim HG* (*co-corresponding author), Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY and Layman LC*. (2010) WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 87(4):465-479.
Kim HG* (corresponding author), Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW,MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CC, Gusella JF. (2012) Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet July; 91(1): 56-72.
Kim HG* (corresponding author), Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. (2019) Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Molecular Autism. Oct 22;10:35.