Senior Researcher Spotlight: Corey McMillan Integrates Multidisciplinary Approaches to Study Neurodegenerative Diseases Dakota Campbell Tue, 07/19/2022 - 09:42
Headshot of Corey McMillan, PhD

Corey McMillan, PhD, is an associate professor of neurology at the University of Pennsylvania and principal investigator of the Penn Bioinformatics in Neurodegenerative Disease (BiND) Lab. He is also a member of the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. His research focuses on multimodal and bioinformatic approaches to improve our understanding of the biological basis of neurodegenerative conditions. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Senior Researcher Spotlight: Fernando Scaglia Explores Novel Therapeutic Approaches for Mitochondrial Disorders Dakota Campbell Tue, 06/07/2022 - 08:43
Headshot of Fernando Scaglia, MD

Fernando Scaglia, MD, is a professor in the Department of Molecular and Human Genetics at Baylor College of Medicine; co-director of the Pediatric Mitochondrial Medicine Clinic at Texas Children's Hospital; and director of the BCM-CUHK Center of Medical Genetics at Prince of Wales Hospital, Hong Kong. His research focuses on the natural history of mitochondrial disorders, supported by the North American Mitochondrial Disease Consortium (NAMDC). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

Senior Researcher Spotlight: David Peterson Develops Innovative Technologies for Dystonia Dakota Campbell Tue, 05/10/2022 - 11:08
Headshot of David Peterson, PhD

David Peterson, PhD, is an Associate Research Scientist at the Institute for Neural Computation, University of California San Diego (UCSD); Director of the Computational Neurology Center at UCSD; and a member of the Dystonia Coalition (DC). His research focuses on improving outcomes for patients with dystonia, a large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Senior Researcher Spotlight: Linda Kusner Explores the Biology Behind Myasthenia Gravis Dakota Campbell Fri, 02/25/2022 - 16:12
Headshot of Linda Kusner, PhD

Linda Kusner, PhD, is a research professor of pharmacology, physiology, genomics, and precision medicine at the George Washington University School of Medicine and Health Sciences, as well as a member of the Myasthenia Gravis Rare Disease Network (MGNet). Her research focuses on the understanding of extraocular muscle physiology and response to disease, including myasthenia gravis (MG). Here, she shares her start in rare disease research, exciting discoveries, and future goals. 

Senior Researcher Spotlight: Douglas Marchuk Leads Disease-Gene Discoveries in Brain Vascular Malformations Dakota Campbell Wed, 10/13/2021 - 11:15
Headshot of Douglas Marchuk, PhD
Douglas Marchuk, PhD

Douglas Marchuk, PhD, is the director of the Division of Human Genetics at Duke University and member of the Brain Vascular Malformation Consortium (BVMC). His laboratory studies the genetics of cardiovascular disease using both the human and the mouse as a model system, primarily focusing on inherited diseases of vascular dysplasia. Here, he shares his start in rare disease research, exciting discoveries, and future goals.