Dr. Secombe is a Professor of Genetics and Neuroscience at the Albert Einstein College of Medicine in New York. She is also a member of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center.

Dr. Secombe obtained her B.Sc and PhD at the University of Adelaide in her native country of Australia. She then did postdoctoral research at the Fred Hutch Cancer Center in Seattle before beginning her faculty position at Einstein in 2009. Dr. Secombe’s research focuses on understanding how the KDM5C protein regulates gene expression programs that are critical for neuronal development and function.

Julie is a pediatric genetic counselor at the Children's Hospital of Richmond at VCU in Richmond, Virginia. She completed her bachelor's degree in medical laboratory science at Salisbury University, her master’s degree in medical laboratory science at the University of Texas Medical Branch, and her master’s degree in genetic counseling from Virginia Commonwealth University. In addition to being a licensed, certified genetic counselor, she is a certified as a medical laboratory scientist, a specialist in clinical chemistry, and a technologist in molecular biology. 

She is interested in helping bridge the gap between clinicians and families who have received KDM5C diagnoses. She believes in making health care information accessible and equitable to as many people as possible. She has seen firsthand the empowerment that can come from informed families and understands that informed families are the best advocates. She became interested in KARES and KDM5C after a relative received a KDM5C diagnosis.

Dr. Shigeki Iwase completed his Bachelor of Science at the University of Tsukuba in Japan, before achieving his PhD from the same university in 2006. He then completed his postdoctoral training at Harvard Medical School in Boston in 2012.

Dr. Iwase now serves as an Associate Professor in Human Genetics at the University of Michigan in Ann Arbor, where he also carries out his research. His work focuses on chromatin in our genetic material and its involvement in health and disease in the brain. In particular, Dr. Iwase and colleagues discovered that the human KDM5C gene encodes an enzyme that removes methyl marks specifically from histone H3 lysine 4, and this enzymatic function is broken in human KDM5C disorders.

Dr. Keegan is a Professor of Pediatrics and Human Genetics at the University of Michigan in Ann Arbor. She is Director of the Division of Genetics, Metabolism, and Genomic Medicine in the Department of Pediatrics and Co-Director of the Michigan Medicine NORD Center of Excellence. Dr. Keegan sees patients as a Clinical Geneticist and has an interest in understanding the natural history of rare neurodevelopmental disorders such as KDM5C through disease-based registries.

Dr. Keegan completed her undergraduate degree at University of Michigan, followed by her M.D. and Ph.D. at the same institution as part of the Medical Scientist Training Program. She completed her Pediatric Residency at Children’s Hospital of Boston and returned to University of Michigan for Medical Genetics fellowship training. She started her faculty position in the Department of Pediatrics at University of Michigan in 2002.

Dr. Krawczyk is an Associate Professor in the Department of Metabolism and Nutritional Programming at the Van Andel Institute in Grand Rapids Michigan.

Dr. Krawczyk obtained her B.Sc. in Guelph, ON, Canada and her Ph.D. at the University of Toronto. She performed her postdoctoral studies at the University of Pennsylvania, then worked in drug discovery at Merck Frosst before starting her independent faculty position at McGill University (Montreal, CA) in 2011. She moved to the Van Andel institute in 2018, to help establish the new Department of Metabolism and Nutritional Programming. Her lab studies metabolic and epigenetic programming of immune cells and has found that KDM5C functions at the intersection of these processes.

Dr. Maria G. Miano is a Senior Researcher of National Research Council of Italy and Head of the Human Neurogenetics Laboratory at the Institute of Genetics and Biophysics “Adriano Buzzati-Traverso” in Naples (Italy).

Dr. Miano obtained BSc and PhD at the University Federico II in Naples (Italy) and Specialty Degree in Medical Genetics at the University La Sapienza in Rome (Italy). She completed the research training at Medical Research Council-Human Genetics Unit in Edinburgh (UK). Her studies focus on the identification of convergent disease pathways damaged in brain diseases. Particularly, she established that KDM5C is an epigenetic regulator at the intersection of transcriptional axes involved in multiple neurodevelopmental disorders.

Mariam's son Nicholas is affected by KDM5C and was diagnosed at the age of 2. Mariam is passionate about research and the importance of collaboration between families, researchers and health care providers. She is the Parent Liaison to the Scientific Advisory Board and a member of the Finance Committee.