Other conditions

As well as these neurological and cardiovascular diseases, we have also studied other conditions that we have seen in the community. One such study relates to a group of families with children born with a severe cystic kidney disorder (nephronophthisis), a condition which usually presents in young adulthood and is the most common genetic cause of progressive renal failure in adolescents and young adults. We recently identified the gene for this condition and our findings defined a new and severe presentation of this condition.