Biography

Research Interests

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.

• Disease gene discovery in autosomal dominant syndromic and non-syndromic autism and intellectual disability.
• Disease gene discovery in autosomal recessive syndromic and non-syndromic autism, intellectual disability, hearing loss, polydactyly, skeletal anomalies, blindness, and dwarfism.
• Identification of disease genes involved in body integrity identity disorder (BIID).
• Development of high-sensitivity DNA genosensor detecting low-dose radiation.

Selected Publications