Some neurologic conditions have a genetic basis, and some genetic conditions manifest with neurological symptoms. With so much crossover, Children’s of Alabama created a specialized clinic in neurogenetics.
“I get a lot of referrals from my neurology colleagues and my genetics colleagues,” said Amitha Ananth, MD, who completed a fellowship in medical genetics as well as neurology. “Creating the clinic allows us to focus in on these problems rather than seeing the children individually. It also provides a good teaching environment for trainees in neurology and genetics to see the overlap.”
Neurogenetics is a growing field of study designed to better understand genetic causes of brain disorders, and to diagnose and treat these conditions.
Ananth sees children and families together with a genetic counselor to discuss genetic risks and the benefits of testing. “It’s really helpful to have a genetic counselor explain and guide the discussion about testing,” she said.
So how did she become interested in neurogenetics? “I was always going to be a neurologist,” she said. “I found the brain and the nervous system really fascinating. And in medical school, I found I enjoyed the pediatric version of it so much more.”
Ananth went to Stanford to complete the medical genetics fellowship after realizing she didn’t have enough genetics background to feel comfortable with gene sequencing and understanding the results. “There are definitely people in child neurology with significant research backgrounds who are quite comfortable with genetics, but as a purely clinical child neurologist I felt I needed the extra training to gain this expertise.”
A lot of pediatric neurology has a genetic basis, she said. The affordability and accessibility of broad-based genetic testing, such as whole exome sequencing, is relatively new but provides important information in difficult-to-diagnose cases. “What I learned during my training was that the next big revolution was going to be in diagnosing neurogenetic conditions with the hope that we would work toward treating them.”
That’s already happening with groundbreaking new treatments for genetically based pediatric neurologic diseases such as Duchenne’s muscular dystrophy and spinal muscular atrophy (SMA). Ananth remembers when she was in residency, and SMA was a death sentence. “There was no treatment. Now there is,” she said.