UAB named Center of Excellence by Rett syndrome advocacy group
 

UAB’s Civitan Rett Syndrome Clinic has been named a Center of Excellence by rettsyndrome.org, one of the nation’s leading advocacy groups.

rettgroup17Alan Percy, M.D., (right), a leading clinician and researcher in Rett Syndrome receives the Center of Clinical Excellence Award along with members of the the clinic team, and Rett Syndrome.org.The University of Alabama at Birmingham Civitan Rett Syndrome Clinic has received the Center of Excellence award from Rettsyndrome.org, a leading advocacy organization for patients and families affected by Rett syndrome.

The award will be presented at a reception Friday, Sept. 8, at 4 p.m. at the Children’s of Alabama Performance Area on the second floor of the Benjamin Russell Hospital for Children, 1600 Seventh Ave. South.  

Rett syndrome is a neurological disorder seen almost exclusively in females, affecting one in every 10,000-23,000 individuals. It is found in all racial and ethnic groups worldwide.  

Alan Percy, M.D., director of the UAB Civitan Rett Syndrome Clinic, is an internationally renowned researcher and clinician in Rett syndrome. When at Baylor College of Medicine in the 1980s, Percy was one of the first physicians in the United States to identify the condition.

In 1999, a decade long search for the genetic basis for Rett syndrome succeeded in identifying mutations in the MECP2 gene in girls fulfilling the criteria for the syndrome. This discovery allowed confirmation of clinical diagnoses and the development of genotype-phenotype correlations. Research at UAB is now examining the molecular genetics of children who do not meet all diagnostic criteria for RS, but who are near the border zones of clinical involvement. 

Patients with Rett syndrome tend to have small hands and feet and a deceleration of the rate of head growth. Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are common. Gastrointestinal disorders and seizures are also frequently seen. Patients typically have no verbal skills, and about 50 percent of affected individuals do not walk. 

Survival into adulthood is now expected barring other illnesses or serious physical complications. Girls and women with Rett syndrome can be expected to demonstrate a full range of emotions and enjoy satisfying social, recreational and educational experiences at home and in the community.  

Rettsyndrome.org is a national organization working to accelerate research to cure Rett syndrome and empower families with information, knowledge and connectivity. Since 1998, Rettsyndrome.org has invested more than $41 million in Rett syndrome research. 

 Vladimir Parpura, M.D., Ph.D.

Since 2005, the McNulty Civitan Scientist Award has been awarded to outstanding scientists with a long term career commitment to research on developmental disabilities.  The award is given each year in honor of the McNulty family who were long-time members of the Chesapeake District of Civitan International. Tom and Mary McNulty along with their son Tommy were the driving force behind the creation of the Civitan International Research Center and the research focus of Civitan International Foundation. To date the award has provided support for a number of successful research projects and helped to develop successful clinical programs benefitting individuals with developmental disorders.  

Vladimir Parpura, M.D., Ph.D., is the 2017-2018 recipient of the coveted McNulty Civitan Scientist Award. He is a  professor in the Department of Neurobiology at the University of Alabama at Birmingham.

His current research includes: i) studying the modulation of calcium-dependent glutamate release from astrocytes in health and disease; ii) visualization of vesicular/receptor trafficking; iii) examination of the nature and energetics of interactions between exocytotic proteins using single molecule detection approaches; iv) development of scaffolds and dispersible materials, most notably modified carbon nanotubes, which can be used in repair after brain injury and v) bio-mimetic micro-robotics. He has been interfacing neuroscience with nanoscience/nanotechnology, synthetic biology and biomedical engineering.

Dr. Parpura holds both a medical degree, awarded from the University of Zagreb in Croatia in 1989, and a doctorate, received in Neuroscience and Zoology from Iowa State University in 1993.  He has held faculty appointments at the Department of Zoology and Genetics, Iowa State University and the Department of Cell Biology and Neuroscience, University of California Riverside. He is presently a Professor in the Department of Neurobiology, University of Alabama Birmingham and President for the American Society for Neurochemistry. Elected as a Member of Academia Europaea (MAE) in 2012.

Congratulations to Dr. Parpura!

The Emerging Scholar Awards were established to recognize and support outstanding research projects from budding scholars whose research focuses on developmental disabilities.  Competition was tight as 18 applications were reviewed by independent reviewers.  The 2017- 2018 Emerging Scholar Awards go to Rylie Hightower and Omar Maximo.    

Rylie Hightower, BSN, RN, is a Graduate Research Assistant in the lab of Dr. Matthew Alexander in the Department of Pediatrics.  Rylie’s proposal “MiR-486 as an Epigenetic Modifier of Disease Progression in Duchenne Muscular Dystrophy” studies muscular dystrophy which affects 1 in 5,000 live male births worldwide. 

Jose O. Maximo, M.A., works closely with Drs. Rajesh Kana and Sarah O’Kelley in the Department of Psychology.  He hopes to unlock some of the mysteries of Autism with his project “The Impact of PEERS Social Skills Intervention on Brain Correlates in Autism Spectrum Disorders."  In the U.S., it is estimated that 1 in 68 children are being diagnosed with autism spectrum disorder.   

The W. John Rynearson Award was established in 2017 in honor of John Rynearson’s leadership of Civitan International.  Civitan International has been a significant sponsor of the Civitan International Research Center.  The first recipient of the W. John Rynearson Award is Mary Phillips.  Mary is a Neuroscience graduate student in the lab of Dr. Lucas Pozzo-Miller in the Department of Neurobiology. The goal of her proposal is to characterize the influence of the ventral hippocampus (vHIP) on the medial prefrontal cortex (mPFC).

The Whit Mallory Award was established in 2013 in memory of Whit Mallory and his dedication to research and clinical activities in the field of developmental disabilities.  Nancy Gallus has been selected as the 2017 – 2018 Whit Mallory Award recipient.  Nancy is a Neuroscience graduate student in the lab of Dr. Jeremy Day in the Department of Neurobiology.  Her research will explore the role of eRNAs as transcriptional regulators of gene expression patterns and the downstream effects on neuronal firing. 

Please join us in congratulating all the winners!

 

 

 

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