Interactions with the Medical Genetics department allow the ascertainment of families with rare hereditary diseases. Studies aim
at localizing the gene in the genome by means of linkage analysis, or physical mapping of chromosomal deletions or translocation
breakpoints when available. The genomic interval is then inspected for candidate genes, which in turn are studied for mutations in
affected family members. Examples of such rares diseases are primary microcephaly and congenital corneal dystrophy. The linkage
analysis and candidate gene approach is also applied to complex inherited disorders like congenital athyreosis and primary pulmonary
hypertension.