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Carlos Ferreira, MD

English, Spanish, basic Portuguese
Service: Genetics
Pediatric Genetics
Board Certifications:
Board Certified in Clinical Genetics, Medical Biochemical Genetics, and Internal Medicine
Areas of Clinical Interest:
Inborn Errors of Metabolism; Skeletal Dysplasias
Medical School - National University of Asunción, Paraguay (2006)
Residency - Rush University Medical Center (2012)
Second Residency - Johns Hopkins/National Human Genome Research Institute Consortium (2014)
Fellowship - National Human Genome Research Institute (2015)
Clinic Locations: Fairfax
Keystone Publications:

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) (

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency (

Prolidase deficiency (

Barth syndrome (

Generalized Arterial Calcification of Infancy (


Service: Genetics
Where did you grow up?
Asunción, Paraguay
Why did you become a doctor and why did you choose your specialty?
I became a physician to help those in need. I hope to make some contribution to our understanding of disease. I chose medical genetics because it is challenging and greatly rewarding to help not just the patients but also their families.
How long have you practiced in the Washington, DC area and what do you like most about it?
I have lived and worked here for 3 years. I like the cultural diversity, nature, and history of the city.
What do you most enjoy doing outside of your clinical practice, when you’re not working?
I enjoy reading, cinema, performing arts, and traveling.
Describe your proudest accomplishment as a provider and/or in your personal life:
Being involved with the undiagnosed diseases program at the NIH. It is particularly rewarding to help patients and families finally understand their disease. Even in the absence of a specific cure or treatment there is a certain relief that comes with having a diagnosis. We can then learn a great deal about common conditions from studying the pathophysiology of rare disorders. My greatest personal accomplishment is my family (my wife and children).
If you weren’t a doctor, what profession would you most likely be doing and why?
Nuclear physicist, as I always wanted to better understand the intricate makings of the universe.
Personal Sketch:
5 - Years married
2 - Children (sons)