Tag: neurology

How Precision Medicine is Reshaping Epilepsy Research

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Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article based on multiple interviews with the investigators.

Excerpt:

The little girl’s epilepsy was so debilitating that she was virtually nonresponsive. Traditional antiseizure medicines could not reduce the five to 20 seizures she experienced daily when she first came to The Children’s Hospital of Philadelphia.

Trying a new approach, her neurologist, David Bearden, MD, prescribed a drug that targeted a molecular pathway involved in her seizures, and within a month, she was seizure-free for the first time since a few days after her birth.

This success excited hope among epilepsy researchers worldwide that other such successful strategies could soon follow. The case exemplifies the popular concept of precision medicine, which is barreling ahead in cancer but not yet common practice in neurologic disorders such as epilepsy.

“Most drugs for epilepsy work like treating pneumonia with a cough suppressant: It may stop the symptom but doesn’t treat the underlying problem,” said Ethan Goldberg, MD, PhD, a CHOP neurologist and neuroscientist who was senior author of a case report about the little girl’s treatment (of which Dr. Bearden was first author) in Annals of Neurology in 2014. Her treatment, while not yet analogous to an antibiotic, was more precisely targeted to the underlying mechanism of her seizures than most treatments.

The future need for precision medicine is one that epilepsy researchers are approaching with conscious attention to the field’s strengths and unmet challenges. Dr. Goldberg was a presenter at a precision medicine scientific symposium during the American Epilepsy Society annual meeting in December. His colleague, Dennis Dlugos, MD, MSCE, a CHOP pediatric neurologist, was among the major contributors to an international consortium of researchers who authored a roadmap for precision medicine in epilepsy published in The Lancet Neurology this fall.

Drugs May Be What’s the Matter With White Matter in HIV

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Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article based on an interview with the investigators.

Excerpt:

Some of the neurological and psychiatric complications associated with HIV may be side effects of the medications that control the virus, and not caused by the virus itself, according to a new study from researchers at The Children’s Hospital of Philadelphia and the University of Pennsylvania. Their pre-clinical findings were published in the Journal of Neuropathology and Experimental Neurology.

Certain antiretroviral drugs were associated with problems in developing myelin proteins in cell models and animal models, and the drugs were associated with reductions in white matter in autopsy brain samples from a cohort of individuals with HIV, reported the research team led by co-senior authors Judith Grinspan, PhD, research professor of Neurology at CHOP, and Kelly Jordan-Sciutto, PhD, chair and professor of Pathology at Penn’s School of Dental Medicine.

Both senior researchers emphasized that individuals with HIV should continue taking lifesaving antiretroviral drugs as prescribed. They hope their current and future findings can help researchers refine drug designs to reduce side effects, and help clinicians pursue prescribing practices that are risk-informed and tailored to the patient’s age and stage of brain development. These future changes could be particularly important for children with HIV whose brains are still developing.

Cornering a Cancer-Connected Autoimmune Disease

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Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article and related behind-the-science human interest blog post based on interviews with the investigators.

Excerpt:

It is certainly not good news for children to get a double whammy of both cancer and autoimmune disease. Unfortunately, for a small subset of children with neuroblastoma, a common childhood cancer of the peripheral nervous system, an extremely rare autoimmune disorder called OpsoclonusMyoclonus Ataxia Syndrome (OMAS) comes along for the ride. The overactive immune response is believed to be triggered by the cancer.

But there is a twist.

“Patients with neuroblastoma who have OMAS have better outcomes, in terms of their tumor, than patients with neuroblastoma who don’t have OMAS,” said Jessica Panzer, MD, PhD, a pediatric neurologist and attending physician at The Children’s Hospital of Philadelphia who is studying this disease.

That pattern leads Dr. Panzer and other researchers to wonder: Is it possible that OMAS is a case of the body’s immune system finding a successful defense against cancer (but taking it a little too far against healthy cells)? And could we learn safe ways to harness its ability to help more children with neuroblastoma, or even other cancers?

These are among many long-term questions on the distant horizon for researchers who study this little-understood autoimmune disease. First, they need to understand the basics.

Dancing Eyes Brought a Research Team Together

Originally published on Cornerstone, the CHOP Research Blog

I composed this story as a complement to the above article highlighting the science of this team’s collaboration.

Excerpt:

It started at the end of a long day. Jessica Panzer, MD, PhD, then just a few weeks into her pediatric neurology residency at The Children’s Hospital of Philadelphia, was about to go home. Instead, she was called to the emergency room to consult on a 3-year-old girl who could barely walk. What happened then opened up new questions in her budding research career.

Not long after that, Miriam Rosenberg, PhD, started on a convergent path when her own 19-month-old daughter got sick. The toddler first developed problems with excessive drooling and stumbling while she walked. Within a few months, she had a sudden onset of more severe symptoms — unable to walk, severe tremor, unable to feed herself. Dr. Rosenberg and her husband brought their child to the nearest hospital.