Genetic Link Between Kidney Defects and Neurodevelopmental Disorders

A new study conducted by Columbia University Medical Center, headed by Dr. Gharavi, shows that there is a link between kidney defects and mental illnesses. The study tested 522 children with malformed kidneys and 17% of them carried a CNV that contributed to their kidney disorder. CNV's, short for copy number variations, are extra copies or deletions of DNA that are just large enough to hold several genes. When CNV's are present, the affected gene occurs in a higher or lower dose than normal which can cause health disorders. The CNVs discovered in the study were also linked to developmental delays and mental illnesses, and 1 in 10 of the children had one. Dr. Gharavi said "Though it remains unclear why kidney malformations and neurodevelopment are linked in some cases, it is possible that the same genes involved in kidney development are involved in brain development." From this research they have concluded that nearly 10 percent of children who are born with kidney defects also have large  alterations in their genetic makeup which are linked with neurodevelopmental delay and mental illness.


"This changes the way we should handle these kids," said kidney specialist Ali  Gharavi. "If a physician sees a child with a kidney malformation, that is a warning sign  that the child has a genomic disorder that should be looked at immediately because of the risk of neurodevelopmental delay or mental illness later in  life," he said. This newly discovered linkage can help the start of personalized medical care. Eventually, an evaluation for genomic alterations will be part of the standard clinical workup and patients can recieve a more precise diagnosis. The underlying genetic defect of the patient will dictate what approach to take and what specific medication will work best for that patient.

I think this new dicovery is exactly where we need to be heading to improve our medical treatments. This research helps us group patients with kidney malformations not only into one big group but also into smaller subgroups also based on possible mental disorders. If we can do this for many different diseases then in the future doctors will be able to look at a person's own potential risk for certain illnesses. I think that this new study is intersting because it shows that personalized medicine is in our near future.