Medical Advisory Board
Robert Conway, MD received his undergraduate degree from Columbia University in New York City and his medical degree from University of California-San Diego. After finishing a pediatric residency at Indiana University in Indianapolis, he returned to California to complete medical genetics fellowships in clinical genetics and metabolic genetics at Cedars-Sinai Medical Center and the UCLA Intercampus Medical Genetics Training Program. During his time at Cedars-Sinai, Dr. Conway saw Macrocephaly-Capillary Malformation (M-CM) syndrome for the first time, which peaked his curiosity about this rare disorder. After seeing this first M-CM patient, he spent the remainder of his fellowship studying the natural history and neurologic abnormalities of the condition. Since completing his genetics training in 2007, Dr. Conway has been on the faculty of Michigan State University where he continues his clinical and academic interest in M-CM. In addition to his work with Michigan State University, Dr. Conway is also a contracted physician with the Detroit Medical Center and the Childrens Hospital of Michigan, where he treats patients who were identified with genetic inborn errors of metabolism on the Michigan state newborn screening program.
William B. Dobyns, MD, has made major contributions to the field of human genetics, particularly the nature and genetic causes of developmental disorders. As both a medical geneticist and pediatric neurologist, Dr. Dobyns offers a rare combination of expertise. He examines patients with all types of genetic diseases, emphasizing children with complex developmental problems.
He also offers genetic counseling for families of these children. Dr. Dobyns is a recognized expert on many complex developmental disorders of the brain including mental retardation, autism, birth defects of the cerebellum such as Dandy-Walker malformation, and birth defects of the cerebral hemispheres such as microcephaly and megalencephaly (small and large brain size), lissencephaly or "smooth brain" disorder, and polymicrogyria (pebbled brain surface). He has made significant contributions to the understanding, classification and genetic cause of many different developmental disorders. He is considered a leading expert in M-CM and is currently aggressively pursuing the discovery of the genetic cause.
- Board Certification(s): Medical Biochemical Genetics and Psychiatry
- Medical/Professional School: Mayo Medical School, Rochester
- Residency: Gundersen Medical Foundation - La Crosse Lutheran, La Crosse, Pediatrics
- Fellowships: Baylor College of Medicine, Houston, Neurology
- Mayo Graduate School of Medicine - Mayo Foundation, Rochester, Medical Biochemical Genetics
John M. Graham, Jr., MD, ScD is a board-certified pediatrician and medical geneticist, with over 40 years of training and experience in clinical genetics, dysmorphology, clinical teratology, developmental disabilities, communicative disorders, and public health aspects of birth defects. I completed a pediatric internship and residency, as well as fellowships in developmental disabilities and dysmorphology. During my dysmorphology training, I did original research on the teratogenic effects of alcohol, fetal constraint, and maternal hyperthermia, which was published in peer-reviewed journals. Since that time I have also published numerous papers on teratogenic syndromes, genetic syndromes and other factors that cause developmental disabilities and/or birth defects. I am a steering committee member and co-founder of the David W. Smith Workshop on Malformations and Morphogenesis, which is an international conference held annually since 1980, to present research on the causes of birth defects. I am a Professor of Pediatrics (Step VIII) at UCLA School of Medicine, where I teach medical school courses on teratology and clinical genetics. Since 1988, I have been Director of Clinical Genetics and Dysmorphology at Cedars Sinai Medical Center in Los Angeles, where I teach genetics, teratology, developmental disabilities, and dysmorphology to medical students, residents and fellows. Between 1981 and 1988, I held similar positions at Dartmouth Medical School in New Hampshire. I have contributed to a number of research efforts that have discovered the genes for a number of common conditions that result in developmental disabilities. These activities have resulted in new diagnostic tests for these conditions and contributed toward understanding the natural history and best modes of treatment for these disorders. These conditions include: Angelman syndrome, Prader-Willi syndrome, CHARGE syndrome, Pallister-Hall syndrome, Klinefelter syndrome, Fetal Alcohol syndrome, Rett syndrome, Cornelia deLange syndrome, Proteus syndrome, FG syndrome, COFS syndrome, van Den Ende Gupta syndrome, Acrodysostosis syndrome, Macrocephaly-Capillary Malformation syndrome, Larsen syndrome, MICRO syndrome, Kabuki syndrome, Costello syndrome, Noonan syndrome, Mowat-Wilson syndrome, and a wide variety of chromosomal deletion syndromes such as the 11q deletion, Williams syndrome, 16p12 deletion, 22q13 deletion, and 1q24-25 deletion syndromes. My long-term efforts to understand these conditions have made CSMC a recognized center for the care and treatment of children affected by these disorders.
Ghayda Mirzaa, MD, completed her clinical genetics fellowship at the University of Chicago in 2011 and is currently working in Dr. William Dobyns' laboratory in Seattle that focuses on developmental brain disorders. She is also an instructor of clinical genetics at Seattle Children's Hospital. Ghayda received her undergraduate degree and medical training from the Arabian Gulf University in Bahrain and her pediatrics training from the University of Illinois at Chicago. Among Ghayda's long-standing professional interests are the genetics, clinical features and medical management of various megalencephaly syndromes. During the past few years, she has dedicated her time to studying children with M-CM, collecting and analyzing their clinical and brain imaging data, as well as helping understand the underlying genetic abnormalities. Her research of M-CM and other megalencephaly syndrome is ongoing, in collaboration with geneticists and researchers across the country, in the hopes of gaining more insight into the nature, clinical spectrum and genetic basis of these unique disorders.
Helga Toriello, PhD is director of Genetics Services at Spectrum Health hospitals in Grand Rapids, and also serves on the faculty of the College of Human Medicine of Michigan State University. Her interests include dysmorphology and syndrome delineation, fetal alcohol syndrome, and hearing loss. She was one of the authors of the first paper describing M-CM, (formerly called macrocephaly-cutis marmorata telangiectatica congenita), which was published in 1997.