Research Frontiers

by Christianna McCausland and Laura Thornton • July 28, 2017
Before precision medicine can be used to treat autism, more must be known about the genetic causes of the disorder.

Imagine that it’s sometime in the future, and a child is being diagnosed with autism spectrum disorder, also known as ASD. A doctor samples the child’s DNA and sends the results to a laboratory. Within days, the child’s doctor knows not only which of the child’s genes have ASD-related mutations, but also where the “on-off” switches for those mutations are. The doctor prescribes a treatment to fix the mutations, and the child develops neurotypically.

It may sound far-fetched, but it could be possible, someday. To get there, doctors and research scientists need to know a lot more about ASD-related mutations than they currently do. There’s a large absence of genetic data on ASD.
 

by Kristina Rolfes • December 05, 2016
Scientists at Kennedy Krieger search for the key to curing Ellie, while keeping her symptoms at bay.
Ellie's Cure 1A

Ellie McGinn is an adorably sweet and charming third-grader from Arlington, Va., who has a progressive neurological disease known as LBSL. Although there is currently no cure or long-term treatment, researchers at Kennedy Krieger are working with her family to find the key to curing Ellie, while keeping her symptoms at bay.

When Ellie was a toddler, she began falling down and suffering from pain and fatigue. Her parents, Michael and Beth McGinn, took her to multiple specialists to find out what was wrong. Neurologists were perplexed—none had seen a case like Ellie’s. Over the next six months, Ellie’s ability to walk deteriorated. When a doctor finally diagnosed her, the news was grim. Ellie had a rare, neurodegenerative disorder known as LBSL (short for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation).

Staff Editor • June 28, 2016
Kennedy Krieger researchers advance scientific discovery through collaborative efforts.
Research Frontiers Brain

We’re at the dawn of a new frontier in neuroscience. With advances in neuroimaging technology and genetic analyses, discoveries of how the brain develops and functions are occurring at an accelerating pace. Functional magnetic resonance imaging provides a window into the brain, giving scientists important clues about how the connectivity of neurons, brain structure, and chemical makeup relate to the symptoms of neurological disorders. We can pinpoint regions of the brain that are activated during specific behaviors, like impulsivity, motivation, and attentiveness—or certain feelings, such as anger or anxiousness.

Kristina Rolfes • December 08, 2015
Q&A with Joan Kaufman, PhD, new Director of Research at the Center for Child and Family Traumatic Stress
Joan Kaufman

Your work focuses on children who have experienced trauma, such as abuse or neglect. How does your research aim to understand and help these children?

The goal of our research is to better understand risk and resiliency in traumatized children, and to utilize what we learn to develop more effective interventions and social policies. One area we’re looking at is how genetic and environmental factors interact in maltreated children. People used to think of genes as fixed and static, but what’s emerged in recent years is how dynamic the interplay is between genes and the environment. 

Kristina Rolfes • September 08, 2015
Clinical Trials Unit helps advance treatment, prevention, and possible cures
Clinical Trials Team

Vaccines, antibiotics, mapping of the human genome—every medical breakthrough in history was born through research, and at the heart of treatment research are clinical trials—testing of new medications, devices, or interventions in an attempt to better understand and treat a disease or disorder. At Kennedy Krieger’s Clinical Trials Unit, researchers gather scientific evidence so that our clinicians and families can make the most informed decisions about care.

Kristina Rolfes • December 02, 2014
How brain stimulation post-injury can affect learning and recovery
Motion Analysis Laboratory

Every movement you make—walking, reaching for your keys, or writing your name—is carefully orchestrated by hundreds of millions of neurons in the brain, with barely a conscious thought. But when a brain injury occurs, a person’s ability to move may become impaired. A once effortless movement may now seem impossible.

Martie Callaghan • August 01, 2014
New tool for predicting traumatic brain injury outcomes
Madison Airey

Researchers are investigating whether function of the somatosensory center in the brain, which processes information about how we experience touch, is a reliable measure of concussion and recovery from concussion. If so, a small, portable tool, like the one used by fifteen-year-old Madison Airey (above), could be used in schools and on sidelines.

Martie Callaghan • November 13, 2013
Researchers at Kennedy Krieger recently announced the groundbreaking discovery of the genetic mutation that causes Sturge-Weber syndrome and port-wine stain birthmarks.
Madisynn Rodriguez

After almost 15 years of study, Anne Comi, MD, director of the Institute’s Hunter Nelson Sturge-Weber Center, and Jonathan Pevsner, PhD, director of Bioinformatics, confirmed their original hypothesis: the syndrome and the birthmark are caused by the same somatic mutation (an alteration in DNA that occurs after conception) now known to be in the GNAQ gene.

Kristina Rolfes • August 02, 2013
An unexpected collaboration between neurology and bioengineering led to an innovative, low-cost medical device that may help prevent cerebral palsy in developing countries.

As far back as 1000 BC, ancient civilizations used a primitive, but ingenious, cooling system using nothing more than clay pots, water, and the natural cooling power of evaporation to keep food cool. Could this same low-tech cooling system be used to prevent brain damage and cerebral palsy in developing countries?

by Martie Callaghan • November 02, 2012
A simple diagnostic test may help parents and pediatricians identify babies at risk for autism as early as six months of age.

Experts agree that early intervention in children with autism can lead to better outcomes later in life. Typically, autism is not diagnosed until age three or four, when delays in speech and social interaction become evident. New research by Dr. Joanne Flanagan and Dr. Rebecca Landa, director of the Center for Autism and Related Disorders at the Kennedy Krieger Institute, has identified a simple test that can raise a red flag for autism as early as six months.

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