Skip to main content

Maximilian Muenke, M.D.

Maximilian Muenke
Chief & Senior Investigator
Medical Genetics Branch

Human Development Section

Medical Genetics and Genomic Medicine Training Program

Combined Pediatrics and Medical Genetics Residency Training Program

Abitur, Goethe-Gymnasium, Germany, 1972
M.D. Free University of Berlin School of Medicine, 1979

T: (301) 402-8167
F: (301) 480-7876
Building 35, Room 1B203
BETHESDA, MD 20892-3717

Selected Publications

Ovarian Health - Sufficiency/Insufficiency: The Study of Reproduction in Sisters

Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome

Third NIH Conference on Holoprosencephaly, 2004

YouTube videoThe Genomics of Attention Deficit Hyperactivity Disorder

An International Summit in Human Genetics and Genomics

Researchers in the Human Development Section (HDS) of the Medical Genetics Branch study the genetics, genomics and molecular biology of normal and abnormal human development, with special emphasis on the brain, skull and heart, and on reproductive health and behavior.  Specific diseases include holoprosencephaly (HPE); attention deficit hyperactivity disorder (ADHD); craniosynostosis, specifically Muenke syndrome; congenital heart disease; fatty liver disease; sex chromosome anomalies, such as Turner syndrome; and premature ovarian insufficiency.

Over the past 20 years, this group has discovered numerous genes contributing to HPE, including the first and best-known gene, Sonic Hedgehog, initially found in fruit flies and named for the prickly appearance it gives them. This work has aided understanding of how the brain develops in humans. In addition to HPE, a midline brain disorder, several genes involved in normal and abnormal formation of the heart midline were identified. These findings have now led to an ongoing multi-nation interest and collaboration in congenital heart disease. 

In addition to brain and heart research, the Muenke lab identified several genes important in craniofacial disorders, including the most common, craniosynostosis syndrome - now called Muenke syndrome. More recently, this lab has pinpointed regions in the genome (susceptibility loci) for the most common behavioral disorder in childhood, ADHD, and is now focused on research that predicts the severity, a better treatment response, and long-term outcome in ADHD. The section uses a number of technologies, including next-generation genome sequencing, and mouse and zebrafish animal models to investigate normal and abnormal development in humans.


Dr. Max Muenke obtained his undergraduate and M.D. degree from the Free University School of Medicine in Berlin. He then pursued residency training in the Department of Pediatrics of the Christian-Albrecht University in Kiel in his native Germany. Dr. Muenke was awarded a three-year scholarship from the German Research Foundation to work with Dr. Uta Francke in the Human Genetics Department at Yale. Following this research fellowship, he completed training at the Children's Hospital in Philadelphia (CHOP) and the University of Pennsylvania (Penn) with Dr. Elaine Zackai in Clinical Genetics and research training as a Howard Hughes Medical Institute Associate with Dr. Robert Nussbaum.  From 1990-97 he served on the faculty of the Departments of Pediatrics and Human Genetics at Penn where he was awarded tenure in 1996.

In 1997, he joined the intramural program of National Human Genome Research Institute at NIH as the Head of the Human Development Section, and since 2000 as Chief of the Medical Genetics Branch.  Dr. Muenke has directed medical genetics training since 1993, first at CHOP/Penn and since 1997 at NIH. The focus of his research has been on the delineation and identification of the underlying causes of craniofacial anomalies in humans. His lab made seminal discoveries in linking Sonic Hedgehog signaling to normal and abnormal brain development in humans. His group identified several genes important in craniofacial disorders, including the most common, craniosynostosis syndrome, now called Muenke syndrome.

More recently, his lab has identified susceptibility loci for ADHD, with further research focused on predicting severity, treatment response and long-term outcome. Dr. Muenke is passionate about training the next generation of leaders in the field of genetics and genomics, and he finds the work with families affected by genetic / genomic disorders as one of the most rewarding aspects of his professional career.

Scientific Summary

Top of page

Last Updated: May 19, 2016