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GNE Myopathy Clinical Studies at NIH

NIH GNE Myopathy Team

Principal Investigators
Nuria Carrillo, M.D.

Nuria Carrillo, M.D.

Principal Investigator of GNE Myopathy Clinical Studies at NIH
Staff Clinician

Dr. Carrillo follows one of the largest cohorts of national and international patients with GNE myopathy at the NIH Clinical Center. She is interested in understanding the natural history of the disease and advancing promising therapies for GNE myopathy. She has led multidisciplinary collaborations to develop endpoints, biomarkers and novel trial designs for GNE myopathy. 

Marjan Huizing. Ph.D.

Marjan Huizing

Staff Scientist, Clinical Project Manager

Dr. Huizing studies disease mechanisms of GNE myopathy since 2001. Her team's studies on a mouse model of GNE myopathy identified that oral ManNAc therapy could increase tissue sialylation in a mouse model of GNE myopathy. She has been involved in all stages of clinical development of ManNAc for GNE myopathy at NIH. 


May Christine Malicdan, M.D., Ph.D.

May Christine Malicdan, M.D.Staff Scientist

Dr. Malicdan joined the NIH research team in 2011. She studies disease mechanism and biomarker development of GNE myopathy. In 2009, Dr. Malicdan was the lead author of a landmark paper describing sialylation-increasing therapies in a mouse model of GNE myopathy, which completed as a graduate student in Dr. Nishino's laboratory (Tokyo, Japan).  


William A. Gahl, M.D., Ph.D.          

William A. Gahl, M.D., Ph.D.

Clinical Director NHGRI
Director, NIH Undiagnosed Diseases Program

Dr. Gahl's laboratory has a longstanding interest in sialic acid metabolism and its associated human disorders. Dr. Gahl initiated clinical studies of GNE myopathy at NIH, including a pilot clinical trial with highly sialylated IvIg (in 2005). Dr. Gahl is the sponsor of the Investigational New Drug application of ManNAc for GNE myopathy. 


NIH Co-Investigators

Kennan Bradley, M.Sc.
Clinical Research Coordinator

Petcharat Leoyklang, Ph.D.
Postdoctoral Research Fellow

Ashleigh Glowacki, B.Sc.
Postbaccalaureate intramural research trainee

Carla Ciccone, M.Sc.
Biologist, Laboratory Manager 

Join us

If you are interested in joining our research group, we have opportunities for recent college graduates to spend a year engaged in biomedical investigation in our NHGRI laboratory through the Post-Baccalaureate Intramural Research Training Award (Post-Bac IRTA) program. We also have opportunities for an intramural postdoctoral fellowship or a medical fellowship

For more information about opportunities within our research group, please contact Dr Marjan Huizing ( or Dr. May Christine Malicdan ( 


Last Updated: October 18, 2017