DR. JOSÉ ANTONIO SÁNCHEZ ALCÁZAR
Researcher, Universidad Pablo De Olavide, Sevilla, SPAIN
Dr. Sánchez Alcázar’s lab has four lines of investigation: i) Role and modulation of autophagy and mitophagy in Mitochondrial disease physiopathology; ii) Apoptosis; iii) Lysosomal diseases; and iv) Molecular characterization of Neurodegeneration Brain Iron Accumulation (NBIA). Dr. Sánchez-Alcázar and his team led the Brain Cure project launched in 2014. Through this project, his team applies the concept of personalized medicine to develop treatment programs for rare genetic disorders.
DR. VALERIE A. ARBOLEDA
Assistant Professor, Pathology and Laboratory Medicine, University of California Los Angeles, Calififornia, USA
Dr. Arboleda is a physician and scientist trained in human genetics, genomics and clinical pathology. The overarching research goals in her lab is to integrate large-scale data sets to improve our biological understanding and clinical treatment of human disease. Dr. Arboleda says “In no other time in human history, we have such rich biological and clinical data, the bioinformatics tools to explore these relationships on a large scale, and the molecular genetic tools to rapidly, experimentally validate findings in model systems.”
DR. YEHUDA G. ASSARAF
Professor of Cancer Research, Technion Institute of Technology, Haifa, ISRAEL
Dr. Yehuda G. Assaraf has special expertise in the molecular basis of anticancer drug resistance and novel strategies to overcome multidrug resistance phenomena. Professor Assaraf was the Dean of the Faculty of Biology at the Technion Institute in Israel from 2012 to 2019. He is currently serving as the Head of the Fred Wyszkowski Cancer Research Lab. Since 2017, Dr. Assaraf has been conducting multiplex analysis of the KAT6A mutation in children, including analysis of transcriptomics, interactomics, proteomics, and metabolomics in dermal fibroblasts and lymphocytes. In collaboration with the KAT6 Foundation, he is launching a metabolomics analysis on dermal fibroblasts from multiple patients harboring KAT6 mutations.
DR. PHILIPPE CAMPEAU
Medical Geneticist at CHU Sainte-Justine Research Center, Montreal, CANADA
Through exome sequencing, Dr. Campeau and his colleagues identified that a variant in the KAT6B gene is the cause for genitopatellar syndrome (GPS). In 2012, Campeau published this finding in the article, “Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.”Today, Campeau’s lab studies epilepsy, and epigenetic and skeletal diseases. His team identifies disease- causing genes, deciphers disease pathophysiology, and improves the management of children affected by these conditions. Through exome sequencing he and his team have identified the genetic cause of GPS (KAT6B), a form of osteopetrosis, dysosteosclerosis (SLC29A3), a form of osteogenesis imperfecta and early onset osteoporosis (WNT1), Yunis-Varon syndrome (FIG4) and DOORS (or DOOR syndrome), which associates deafness with epilepsy and skeletal abnormalities (TBC1D24). Their current work with murine models is aimed at a better understanding of the function of these genes.
Dr. Campeau is seeking to analyze the neurodevelopmental profile of individuals affected by KAT6B mutations. So far,15 families have participated in this study and the findings were summarized during the 2021 KAT6A/KAT6B Virtual Symposium.To be able to do genotype-phenotype analyses and compare the results to other conditions, Campeau needs more participants. Please consider filling in the questionnaires at https://redcap3.urca.ca/surveys/?s=88MANYP8FL and pass the word to other families in the KAT6B community.
DR. JACQUELINE HARRIS
Assistant Professor, Neurology, Pediatrics and Genetics, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Dr. Harris specializes in patients with genetic and epigenetic disorders with neurologic
and cognitive manifestations including Kabuki syndrome, Rubinstein-Taybi syndrome, Wiedemann-Steiner syndrome, Angelman syndrome, Kleefstra syndrome, Sotos syndrome, and KAT6A syndrome. Dr. Harris is interested in genetic and epigenetic causes of neurodevelopmental disorders – particularly intellectual disability – and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits.
DR. RICHARD I KELLY
Pediatrician and Biochemical Geneticist, Central Pennsylvania Clinic, USA
Dr. Kelly is the director of Kennedy Krieger Institute’s Clinical Mass Spectrometry Laboratory. He is also a professor of pediatrics at Johns Hopkins University. Dr. Kelley’s research has focused on the elucidation of the biochemical basis of genetic disorders. Through the application of various techniques of biochemical analysis but especially mass spectrometry, Dr. Kelley has discovered the biochemical cause, and thereby the genetic etiology, of more than a dozen different diseases.
DR. BEKIM SADIKOVIC
Associate Professor of Pathology and Laboratory Medicine at the Western University, Head of Molecular Genetics at the London Health Sciences and St Joseph’s Healthcare, Ontario, CANADA
Dr. Sadikovic’s research interests revolve around improving the care of patients with genomic disorders through application of latest technologies to clinical diagnostics with particular focus on development of genomic and epigenomic biomarkers. His research utilizes machine learning-based algorithms for diagnosis of genetic disorders based on the patient’s epigenomic profiles.
DR. ANGIE SERRANO
Assistant Professor, Boston University School of Medicine, Vascular Biology, Boston, Massachusetts, USA
Angie Serrano is the Science Advisor to the KAT6 Foundation. Dr. Serrano is a postdoctoral fellow in H. Joseph Yost Lab at the University of Utah. Presently, she is researching Kabuki Syndrome (KS) using a zebrafish genetic model and human iPSCs-derived brain organoids in order to understand the key biological processes that trigger cardiovascular and neurological defects in KS patients. Additionally, she is working with the KAT6 Foundation and collaborators to establish the first patient-derived induced Pluripotent Stem Cells (iPSCs) bank at Boston University. Dr. Serrano was recently awarded a 2020 Warren-Alpert Distinguished Scholar and is currently an advocate for bridging the gap between rare disease research, healthcare providers and patients.
DR. ANNE K. VOSS
Joint-Division Head, Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, AUSTRALIA
Dr. Voss established her laboratory at the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 after post-doctoral positions at Cornell University, USA and at the Max-Planck-Institute for Biophysical Chemistry, Germany. From 2012-2018 Dr. Voss was Head of the Development and Cancer Division, and since 2019 she is Joint-Head of the Epigenetics and Development Division at WEHI. In 2015, she received the Elizabeth Blackburn Fellowship (Biomedical Science) and in 2021 the Clunies Ross Award with Tim Thomas and Jonathan Baell for the commercialization of MYST histone acetyltransferase inhibitors for the treatment of cancer. Dr. Voss investigates the genetic regulation of embryonic development, adult stem cells and cancer with particular emphasis on transcriptional regulation through chromatin modifications in health and disease.
