Exome CNV detection and classification in rare diseases

Dr. Gabrielle Lemire is a medical geneticist certified under the Royal College of Physicians of Canada who currently trains at Boston Children’s Hospital and Broad Institute of MIT and Harvard. She completed her medical and residency training in medical genetics at Université de Montréal and a clinical research fellowship with the Care4Rare Canada Consortium at the University of Ottawa. She is currently a postdoctoral research fellow in Dr. Anne O’Donnell-Luria’s laboratory at Boston Children’s Hospital. Dr Lemire performs exome and genome analyses to identify rare disease diagnoses and novel gene discovery. Her research focuses on developing novel approaches to investigate undiagnosed rare genetic diseases, understanding their molecular mechanism, and improve phenotype delineation of rare diseases. 

Dr. Sanchis-Juan is a Postdoctoral Research Fellow at the Center for Genomic Medicine MGH, Harvard Medical School and the Broad Institute of MIT and Harvard. Alba completed her PhD in Biotechnology at the Polytechnic University of Valencia, in collaboration with the University of Cambridge, and joined the Talkowski laboratory in 2020. Her research has focused on the discovery of unknown etiological genes and variants in coding and non-coding regions of the genome of patients with rare diseases, with a particular focus on identification and resolution of structural variants and complex rearrangements using short- and long-read whole-genome sequencing technologies. Currently, she is leading large-scale population and clinical genomics efforts to aggregate the largest collection of rare disease cases to date to combine the full spectrum of genetic variants to empower gene and variant discovery causing rare diseases.

Dr. Harrison Brand is an Assistant Professor in the Departments of Neurology and Surgery at Massachusetts General Hospital (MGH) and Harvard Medical School. He also serves as the Associate Director of the Broad Structural Variation Group. Research in his lab focuses on the development of novel methods for the analysis of structural variation (SV) from whole genome sequencing data and application of these methods to decipher the genetic architecture of structural birth defects and other developmental disorders. He served as one of the primary developers of the cloud-based GATK structural variant caller (GATK-SV) and has led efforts to generate robust SV reference databases for the genomic community in cohorts such as gnomAD, 1000 genomes, and All of Us. 

Dr. O’Donnell-Luria is an Assistant Professor in Pediatrics at Boston Children’s Hospital, Harvard Medical School and Institute Member at the Broad Institute of MIT and Harvard. Her research is focused on improving the diagnosis of rare disease. She obtained her MD/PhD degrees from Columbia University Medical School and residency training in Pediatrics, Clinical Genetics, and Medical Biochemical Genetics at Harvard Medical School, Boston Children’s Hospital. She is part of several collaborative studies in genomics including the GREGoR consortium, NeuroDev Project, gnomAD consortium, CAGI consortium, and ClinGen. Her research is focused on methods and technologies to improve rare disease diagnosis given that half of patients remain undiagnosed.