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Brain Plasticity, Hemophilia B Gene Therapy, Stem Cells and SCD, Medical Cannabis for Autism, PA Rare Disease Advisory Council

Published on December 15, 2017 in Cornerstone Blog · Last updated 4 months 1 week ago


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The year 2017 might be coming to a close, but research continues to ramp up at Children’s Hospital of Philadelphia, with exciting developments in the fields of brain science, hemophilia, gene therapy, and more. In this week’s roundup of headlines, we take a look at remarkable reports from CHOP and Penn Medicine about the brain’s ability to reorganize itself after limb amputation, the first U.S. effort to observe the use of medical cannabis for children with autism, and exciting innovations to improve sickle cell disease treatment presented at the 59th American Society of Hematology Annual Meeting and Exposition. Read on to discover more about these brilliant breakthroughs. 

Brain Remaps Itself in Child With Double Hand Transplant

In July of 2015, 10-year-old Zion Harvey received a double hand transplant from a 40-member team of surgeons at CHOP and Penn Medicine — a milestone that marked the first successful surgery of its kind in a child. Since then, a collaborative team from both institutions has closely evaluated Zion’s progress, and their observations continue to generate excitement and novel research questions about brain plasticity in children. New study results published in the Annals of Clinical and Translational Neurology show that Zion is the first child to exhibit brain mapping reorientation. The brain remapping that occurs after upper limb amputation is called massive cortical reorganization (MCR). The researchers used magnetoencephalography, which measures magnetic activity in the brain, to detect the location, signal strength, and timing of Zion’s responses to sensory stimuli.

“We had hoped to see MCR in our patient, and indeed, we were the first to observe MCR in a child,” stated William Gaetz, PhD, a radiology researcher in the Biomagnetic Imaging Laboratory at CHOP. “We were even more excited to observe what happened next — when the patient’s new hands started to recover function. For our patient, we found that the process is reversible.”

Learn more about this remarkable breakthrough in the press release.

CHOP Researchers Study Medical Cannabis and Autism

Anecdotal evidence suggests that cannabinoids, the active compounds in medical cannabis, may help with symptoms of autism such as social interaction and controlling repetitive behavior — but without the side effects that antipsychotic drugs produce. Still, little is known about the use of medical cannabis in children. In an effort to investigate the effects of medical cannabis on children with autism, CHOP researchers are working with an Australian biopharmaceutical company, Zelda Therapeutics, to conduct an observational study in pediatric patients with autism.

Led by Athena Zuppa, MD, MSCE director of the Center for Clinical Pharmacology at CHOP, the researchers will not give cannabis to children but rather, study children who are already taking medical cannabis from a state sanctioned facility. In coverage of this news by, Dr. Zuppa said that the CHOP study will investigate the range of products that children with autism are currently taking, throughout the region.

“We’re trying to understand the landscape of what the kids are taking,” said Dr. Zuppa in the article. “Some kids are taking only CBD [cannabidiol] and some are taking a mixture of CBD and THC [tetrahydrocannabinol]. We are trying to understand how and why these choices are made.”

Read coverage from here.

Engineered Stem Cells Could Facilitate Safer Blood Transfusions for Sickle Cell Disease

In a scientific breakthrough presented at the 59th American Society of Hematology Annual Meeting and Exposition in Atlanta, CHOP researchers presented one of the first applications of induced pluripotent stem cells (iPSCs) to improve day-to-day clinical care of sickle cell disease (SCD) patients. Led by Stella Chou, MD, attending physician in the division of Hematology at CHOP, and with funding from the National Institutes of Health, the research team used CRISPR/CAS9, a gene-editing tool, to engineer a panel of stem cell-derived red blood cells that can guide the rapid identification of antibodies common in people with SCD. Individuals with SCD often need blood transfusions, but finding donor blood that can be safely used in these patients is challenging because uncommon antibodies form in their blood. The new CRISPR/CAS9-engineered panel will help patients with SCD find matched donor blood for transfusions quickly and more efficiently.

“It has been more than 10 years since iPSCs have been available, but we have yet to see applications for blood diseases that improve how we care for our patients,” said Dr. Chou in a press release. “Using the [CRISPR/CAS9-engineered] panel, we would be able to more quickly identify what antibodies the patient has made, informing us what kind of blood we have to give them. It means we’ll be able to improve their ability to be transfused safely and reduce delays in their care.”

Learn more in the press release.

One-Time Gene Therapy Safely Stops Bleeding in Hemophilia B Patients

A new bioengineered gene therapy developed by CHOP researchers and delivered in a single intravenous infusion could eliminate the need for hemophilia B patients to go through the typical prophylactic (preventive) regimen, consisting of intravenous infusions of manufactured clotting factor. In new research published in the New England Journal of Medicine, the researchers showed that the one-time therapy enabled adults with hemophilia B, an inherited bleeding disorder, to safely produce sustained levels of clotting factor that prevented debilitating bleeding episodes. Patients with hemophilia B have low levels of clotting factor IX (FIX), resulting in disabling or life-threatening bleeding. The study was funded by Spark Therapeutics and Pfizer, and described positive results from the phase 1/2 clinical trial of the research investigation, which involved 10 adult men. The team reported preliminary results from the trial at the American Society of Hematology annual meeting in December 2016.

“People who live with hemophilia face a lifelong need for vigilant monitoring and recurrent factor concentrate infusions to prevent spontaneous, potentially life-threatening bleeds and to protect their joints,” said senior author Katherine High, MD, president and head of Research and Development at Spark Therapeutics. Dr. High conducted preclinical work and early clinical trials in hemophilia at CHOP beginning in the 1990s. “The discipline required to execute the usual prophylactic regimen can exact a heavy toll on quality of life that most people take for granted, and those regimens result in significant costs to patients, families and the healthcare system.”

Read the study abstract online and learn more in the press release.

Dr. Can Ficicioglu Appointed to Pennsylvania Rare Diseases Advisory Council

We are excited to congratulate Can Ficicioglu, MD, PhD, physician-scientist and director of the Newborn Metabolic Screening Program at CHOP, on his appointment to the Pennsylvania Rare Diseases Advisory Council — a new assembly established by the Commonwealth of Pennsylvania this year.

In his role, Dr. Ficicioglu will help to advise Pennsylvania legislature about policies and programs relevant to services for patients with rare diseases by working with state officials, researchers, the parents of children with rare diseases, and other healthcare professionals. As director of the Newborn Metabolic Screening Program, the Lysosomal Storage Diseases Program, and an expert in newborn screening for rare, inherited metabolic disease as well as cutting-edge treatments, Dr. Ficicioglu is well-positioned to work with advisory council members in establishing protocols for tracking rare disease, raising public awareness, and helping to develop policy recommendations for treatment and services.

Learn more in the press release.


Recently on Cornerstone, we answered three key questions for breaking into translational research as a basic scientist, shared some heartfelt words from Bryan Wolf, MD, CSO and executive VP of CHOP Research Institute in memory of Dr. Carole Marcus, and published a guest blog post from PolicyLab’s directors about what we can expect from their exciting new website.

Catch up on our headlines from our Dec.1 edition of In the News:

  • What Influences Pneumonia Outcomes for HIV-Exposed Children?
  • Dr. De León-Crutchlow Receives ‘Be My Sugar’ Award for Medical Excellence
  • Genetics of Late Puberty Linked to Low Bone Density
  • Shunts vs. Stents: Study Compares Ways to Stabilize Blood Flow in Infants with Heart Disease

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