ALS4
Christopher Grunseich, MD
Craig L. Bennett, PhD
Dr. Bennett has joined Dr. La Spada at Duke University School of Medicine as Assistant Professor of Neurology. He has been an ALS4 research partner with Dr. La Spada at both UCSD and, before that, the University of Washington Medical Center. His postdoctoral mentor was Professor Phillip Chance who joined the Johns Hopkins-centered team that originally took blood samples and examined members of the extended Maryland-based ALS4 family during the 1994 ‘reunion’ in Solomons Island.
Vivian G. Cheung, MD
David Cornblath, M.D.
Dr. David Cornblath of Johns Hopkins Hospital, along with Dr. Bruce Rabin and the late Dr. John Griffin, realized that a few of their patients who exhibited symptoms of an undefined form of motor neuron disease traced their lineage back to the same large family in Maryland. They worked with family members to convene a medical family ‘reunion’ held in 1994 at which they examined and sampled blood from 150 family members. Family members also identified their common ancestry on a 10’ long genealogical chart that was first begun in the mid-1960’s when some older, afflicted members had sought help at the National Institutes of Health. The Hopkins colleagues identified 50 individuals attending the 1994 reunion who were affected with the mysterious disease.
Returning to Hopkins with a trove of clinical evidence and inheritance linkages, in 1998 Drs. Cornblath, Rabin and Griffin identified the perplexing motor neuron disease as ALS type 4 (also known as juvenile ALS) and, aided by the genetic expertise of Dr. Phillip Chance, determined the ALS4 gene lay within a small region of chromosome 9. Research teams expanded to include ALS investigators from around the world and in 2004 an international team, which pooled DNA samples from four countries, determined that ALS4 is caused by a mutation (L389S) on chromosome 9q34.13 in the SETX gene.
Dr. Cornblath continues to provide care to many of the original patients and their extended family members. He is widely known as a knowledgeable medical authority in the clinical and research aspects of ALS4 and is a conduit between ALS4 patients and researchers who are still trying to find the keys to the disease.
Dr. Cornblath focuses on neuromuscular diseases with special emphasis on peripheral neuropathies. He has participated in a wide range of clinical studies from Phase 1 to 4 including Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy, ALS, neuromuscular diseases associated with HIV infection, diabetic neuropathy, neurotrophins in neuropathy and painful neuropathies.
Prior to joining Johns Hopkins in 1982, Dr. Cornblath received his medical degree from Case Western Reserve University. He completed his internship in medicine at University Hospitals in Cleveland, Ohio followed by a residency in neurology and a fellowship at the Hospital of the University of Pennsylvania. He now serves as Professor of Neurology and Neurosurgery at Johns Hopkins University School of Medicine, as well as Director of the Neurology EMG Laboratory. Over the years he has published 200+ professional articles and been a reviewer for over 30 journals. He travels extensively, delivering lectures to students and peers worldwide. Throughout it all he is still our lynchpin for helping patients and promoting ALS4 research wherever it is happening.
Dr. Albert R. La Spada is Professor of Neurology, Cell and Molecular Biology Program, at Duke University School of Medicine. From 2009 to 2017, Dr. La Spada held the position of Professor and Division Head of Genetics in Pediatrics, Cellular & Molecular Medicine, and Neurosciences at the University of California, San Diego (UCSD), and is a founding faculty member of the UCSD Institute for Genomic Medicine and of the Sanford Consortium for Regenerative Medicine. Prior to UCSD, Dr. La Spada was on the faculty at the University of Washington Medical Center where, from 2004 to 2009, he was Director of the Center for Neurogenetics and Neurotherapeutics.
Throughout the first half of his career Dr. La Spada’s research remained focused on the molecular basis of neurodegenerative disease, like ALS4. By reproducing molecular pathology in model organisms such as mice and in neurons derived from human patient stem cells, Dr. La Spada has begun to use this mechanistic knowledge to develop therapies to treat these disorders.
In 2017 Duke University hired Dr. Albert La Spada to build a Neurodegenerative Disease Center. This center will have a major focus on translational research, meaning he will be directing the development of drugs in Duke labs targeted to help ALS patients. He has been and remains a friend to those of us with ALS4 and has made significant advances in understanding the precise mechanism of this rare disease.
Christopher Grunseich, MD is a senior clinical fellow in the Neurogenetics Branch/NINDS. His work has focused on understanding tissue specific disease disturbances in two types of motor neuron disease: Spinal and Bulbar Muscular Atrophy (SBMA) and Amyotrophic Lateral Sclerosis, type 4 (ALS4). He is using iPSC differentiated tissues to explore the disease mechanism and identify targets that can be used in the development of treatment for these diseases. He has participated in several clinical trials in subjects with motor neuron disease, and is currently seeing patients with ALS4 in the outpatient neurogenetics clinic at the NIH.
He received his MD from SUNY Stony Brook where he studied gene regulation during neuronal development and the role of astrocytes in Rett Syndrome as an HHMI Fellow with Dr. Gail Mandel. He completed his residency in Neurology at Georgetown University in 2010, and has since been studying disease modeling and mechanisms using patient derived iPSC with Dr. Kenneth Fischbeck and Dr. Vivian Cheung.
Working closely with family members affected by ALS4 has allowed Dr. Grunseich and other doctors at the NIH to understand more about the natural course of the disease and the variation that may be seen within the affected individuals. Understanding the connection between the symptoms patients experience and the biology that is disrupted in patient cells is an important step in developing therapies.
Albert R. La Spada, MD, PhD
Christopher Grunseich, MD
Our Doctors
We are very fortunate to have many top-tier Doctors researching the effects of ALS4 at top-tier facilities across the country. Below is a list of some of our most active supporters.
Dr. Vivian Cheung is a pediatric neurologist who studies RNA biology. Her research focuses on understanding how RNA is processed in human cells and determining dysregulation in neurologic diseases such as ALS4.
Dr. Cheung received her undergraduate degree from the University of California, Los Angeles and her medical degree from Tufts University. She received postdoctoral and pediatric residency training at the University of California, Los Angeles, and neurology training at The Children’s Hospital of Philadelphia and the University of Pennsylvania. She was on the faculty of the University of Pennsylvania as the W. W. Smith Professor of Pediatrics and Genetics until 2013 when she moved to the University of Michigan as the Frederick G. L. Huetwell Professor of Pediatrics (Neurology) and a Professor of Genetics. She is also a Professor in the Life Sciences Institute of the University of Michigan. She is an investigator of the Howard Hughes Medical Institute.
Dr. Cheung is a recipient of the Il-Chun Molecular Medicine Award from the Seoul National University and the Curt Stern Award from the American Society of Human Genetics. She is a member of the American Society for Clinical Investigation and the Institute of Medicine of the National Academy of Sciences.