Nicolas J. Abreu, MD

In high school, I was a peer mentor to classmates who had a range of physical and developmental disabilities, including cerebral palsy, autism, and intellectual disability. I realized how critical social support was for these students, and I wanted to do more for them. I decided to pursue a career in child neurology and neurodevelopmental disabilities so I could become an expert in the evaluation and treatment of people with these conditions.

During my residency, I discovered that identifying a genetic cause for a neurological condition could provide patients and their families with an answer to the long-asked question “Why did this happen?” It also offered a lens through which I could better understand a person’s future.

At NYU Langone’s Neurogenetics Program, I evaluate and treat people of all ages who have complex neurological disorders, such as developmental delay, seizures, or difficulties with movement. I also manage lysosomal storage disorders, in which enzyme deficiencies cause toxic materials to accumulate in the body’s cells. These disorders include Gaucher disease, Fabry disease, Pompe disease, Batten disease, and the mucopolysaccharidoses.

I collaborate with patients, their family members, and often other doctors to ensure I have a detailed understanding of a person’s health problem. I review their medical records, including any laboratory and imaging results, and I perform a clinical exam. I also explain genetic testing options to ensure patients have sufficient information to make the right treatment decision.

I work closely with a genetic counselor to review conditions that run in a patient’s family that could be related to their current problems. The genetic counselor and I explain the complexities of genetic testing and its potential impact on the person and their family. If we identify a genetic cause for a person’s condition, they may need screening for other medical problems, and they may have new treatment options. Patients also may be eligible to participate in a clinical trial, in which new therapies are tested.

Some lysosomal storage disorders now have multiple treatment options. As the director of the Lysosomal Storage Disorders Program, which has been providing enzyme replacement therapy for people since the 1990s, I work with patients and their families to come up with an appropriate treatment plan. I provide comprehensive monitoring in collaboration with other doctors who care for adults and children.

My patients can enroll in patient registries, which allow experts to collect information about people who have a particular disease. Currently, I am enrolling patients who have Gaucher disease, Hunter syndrome, Fabry disease, and Pompe disease in registries. I serve on the patient outreach committee of the American Society of Gene and Cell Therapy.