DMRF Announces 2017 Mahlon DeLong Young Investigator Award
Project Focuses on X-linked Dystonia-Parkinsonism
January 10, 2017 (Chicago, Illinois) -- The Dystonia Medical Research Foundation (DMRF) has announced the recipient of the Mahlon DeLong Young Investigator Award. Aloysius Domingo, MD, PhD, a postdoctoral research fellow at Massachusetts General Hospital earned the $55,000 award for a project entitled, “Deriving Signatures in X-linked Dystonia-Parkinsonism through Integrative Genomic Studies.” X-linked dystonia-parkinsonism (XDP) is a degenerative neurological movement disorder characterized by symptoms of dystonia (involuntary muscle movements and postures resulting from extreme muscle spasms) in combination with symptoms of parkinsonism (tremors, bradykinesia, rigidity, balance instability, shuffling gait). It is believed to be caused by DNA alterations in the TAF1 gene. XDP affects Filipino men almost exclusively. Women may be carriers but rarely become symptomatic. Only about 500 patients have been documented, and experts believe XDP is under-reported.
“As a Filipino researcher in the US, the search for the genetic underpinnings and definitive disease mechanism of XDP is not like any scientific endeavor for me,” says Dr. Domingo. “It represents a personal desire to help my countrymen by removing frustrating barriers that prevent the development of therapy for this rare genetic condition. The award from the DMRF is a step towards this goal, not merely by support through funds, but hopefully also by generating awareness and directing attention to this orphan disorder."
The goal of Dr. Domingo’s project is to clarify the genetic architecture of XDP and begin to understand the brain pathways and networks that become abnormal as a consequence of the causative mutation. Despite the fact that the disease is rare worldwide, the disease mechanisms in XDP may harbor clues into the mechanisms of other forms of dystonia and parkinsonism.
“Dr. Domingo is already well-known for his award-wining genetic and clinical studies on XDP and other movement disorders,” says Jan Teller, PhD, Chief Scientific Officer with DMRF. “He is exceptionally well-trained and prepared to carry out this work having received an MD degree in the Philippines and a recent PhD in Neurogenetics from the University of Lübeck in Germany. We hope that his long-term commitment to studying this form of dystonia will result in numerous breakthrough discoveries.”
The namesake of the award, Mahlon DeLong, MD, is a neurologist and professor at Emory University School of Medicine in Atlanta. His research has advanced the understanding and treatment of Parkinson's disease, dystonia, tremor, and other neurological movement disorders. His pioneering discoveries contributed greatly to the resurgence of functional stereotaxic brain surgery, which has transformed the lives of thousands of patients affected by these debilitating disorders. His longtime leadership as Scientific Director at the DMRF transformed the Foundation’s science program and inspired many investigators and clinicians in the dystonia field. To honor Dr. DeLong’s lifetime achievements and service, the DMRF established The Mahlon DeLong Young Investigator Award to support an early career PhD or MD researcher pursuing ambitious research in dystonia.
The Dystonia Medical Research Foundation (DMRF) is a 501(c)(3) non-profit organization dedicated to advancing research for improved dystonia treatments and ultimately a cure, promoting awareness, and supporting the well-being of affected individuals and families. The DMRF can be reached at 800-377-3978 or www.dystonia-foundation.org.
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