Rare Disease: When The Diagnoses Is Not The Answer
Academic Minute - June 22, 2022
Steven Walkley, D.V.M., Ph.D., describes "gene teams" at Einstein and Montefiore in which physicians and scientists provide clinical information and research updates to parents of children diagnosed with rare genetic diseases. Dr. Walkley is co-director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center and professor in the Dominick P. Purpura Department of Neuroscience, of pathology, and in the Saul R. Korey Department of Neurology.
Wall Street Journal interviews Kartik Chandran, Ph.D., and Steven Walkley, D.V.M., Ph.D., about the connection between the rare genetic disease Niemann-Pick Type C (NPC) and Ebola. Dr. Chandran’s research suggests that the gene mutation responsible for NPC may offer protection against Ebola. Dr. Walkley notes that it is well-known that carriers of certain genetic diseases might have protection against other diseases, citing that carriers for sickle-cell disease might be protected against malaria. Dr. Chandran is associate professor of microbiology & immunology and holds the Harold and Muriel Block Faculty Scholar in Virology. Dr. Walkley is director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center and professor of pathology, of neurology and of neuroscience at Einstein. (subscription only)
More coverage on this story
The Scientist
CBSNews.com
November 3, 2014
The Wall Street Journal highlights groundbreaking research by Steven Walkley, D.V.M., Ph.D., that has led to treatment options for the rare condition Niemann-Pick Type C. In a lengthy cover story covering at least six years of reporting, journalist Amy Marcus details the passion that drove Walkley to continue his research on the drug cyclodextrin – and explores how parents and scientists have joined forces to find more effective treatments.
November 14, 2013
The New York Daily News interviews Robert Marion, M.D., and Steven Walkley, D.V.M., Ph.D., about Einstein’s leap year event showcasing the talents of young people with rare diseases in order to raise awareness of their conditions. The event will highlight the abilities of the participants and encourage partnerships among researchers to help find much-needed treatments. Dr. Marion is chief of genetics and developmental medicine at Einstein and Montefiore Medical Center. Dr. Walkley is director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center at Einstein.
February 29, 2012
The Wall Street Journal highlights remarks by Steven Walkley, D.V.M., Ph.D., on the NIH's Therapeutics for Rare and Neglected Diseases (TRND) program, which just announced funding for five projects struggling to develop drug therapies for rare diseases, including the fatal neurodegenerative disease Niemann-Pick Type C (NPC). Dr. Walkley, who helped identify a potential drug treatment for NPC by testing FDA-approved medications, notes that the TRND program is promising, but offers no guarantees. Dr. Walkley is professor in the Dominick P. Purpura Department of Neuroscience.
July 27, 2010