Kit has studied and taught the molecular genetic basis of human disease since 1991. He has contributed to understanding the genetic mechanisms involved in the disorders of Friedreich’s ataxia, X-linked cleft palate, severe neural tube defects and rare variants underlying sudden cardiac death. These projects have contributed to discoveries involving trinucleotide repeat expansion pathogenicity, T-Box transcription factor gene disruption and mammalian palatal shelf formation, the role that planar cell polarity genes play in co-ordinated tissue patterning during embryonic development, as well as CNVs possibly underlying Takotsubo cardiomyopathy.
