Brian Murphy, PhD

Brian Murphy, PhD

Brian Murphy, PhD, is a medical/science writer and educator who has written over 300 resource articles about rare diseases. He holds a BS from Georgia Institute of Technology and a PhD from Case Western Reserve University, both in Biomedical Engineering. After graduation, Brian worked as a clinical neural engineer to help restore movement in spinal cord injured patients by reconnecting their brain to their paralyzed muscles using experimental medical devices. In addition to resource pages, Brian has also authored/co-authored several research articles in journals including The Lancet, Journal of Neural Engineering, and PLOS ONE.

All articles by Brian Murphy, PhD


Ultrasonography Could Assist in the Differential Diagnosis of Pompe Disease

Ultrasound imaging of the abdominal muscles may help in the differential diagnosis of late-onset Pompe disease (LOPD) from myotonic muscular dystrophy type 1 (DM1), according to a study. Patients with LOPD had significantly reduced abdominal muscle thickness compared to patients with DM1 (P =.028). Two-thirds of the abdominal muscles in the patients with LOPD were observed to have…

sma classification

Onasemnogene and Risdiplam Combination Well-Tolerated in SMA Type 1 Patients

Researchers from the Wake Forest School of Medicine in Winston-Salem, South Carolina announced study results which found the combination therapy of onasemnogene (Zolgensma®) and risdiplam (EvrysdiTM) was well-tolerated in 4 patients with spinal muscular atrophy (SMA) type 1. The authors of the small case study, published in Muscle & Nerve, also stated “all patients experienced…

MTC guideines

Study Shows Differences in Treatment Preferences of Neurologists and RRMS Patients

A new study published in Patient Preference and Adherence highlights differences in treatment preferences between neurologists and patients with non-highly active relapsing-remitting multiple sclerosis (RRMS).  The most important treatment attributes for patients were reducing the rate of brain volume loss (BVL), lowering the risk of infection, and decreasing the risk of flu-like symptoms. Neurologists prioritized…

Clinical trial

Phase 1 Study Finds Potential PAH Treatment Safe, Generally Well-Tolerated

TPN171H, a novel phosphodiesterase type 5 (PDE5) inhibitor being investigated for the treatment of pulmonary arterial hypertension (PAH), has successfully concluded a 3-part, phase 1 clinical trial in healthy subjects. The study results were reported in the journal Drug Design, Development and Therapy. The study found that TPN171H was safe and generally well-tolerated. “Based on…


Is Now the Time to Start Newborn Screening for DMD?

A new opinion article in JAMA Neurology argues that now may be an opportune time to begin newborn screening for Duchenne muscular dystrophy (DMD). With US Food and Drug Association (FDA) approval of 4 molecular therapies for DMD — eteplirsen, golodirsen, vitolarsen, and casimersen — along with a commercially available immunoassay specific to the skeletal…

AATD Hepatocytes

Adenine Base Editing Technology Can Correct Common AATD-Causing Mutation in Hepatocytes

Researchers from the Center for Regenerative Medicine of Boston University and Boston Medical Center, as well as Beam Therapeutics, have demonstrated single-base editing to correct the most common mutation that causes alpha-1 antitrypsin deficiency (AATD). The results, which are published in Molecular Therapy, show that adenine base editors (ABEs) could be used to correct the…

RRMS relapse

Quality of Life in RRMS Patients Significantly Affected by Fear of Relapse

An article published in Multiple Sclerosis and Related Disorders found that health-related quality of life (HRQoL) was lower in patients with relapsing-remitting multiple sclerosis (RRMS) than non-patient controls and that the fear of relapse (FoR) was the best predictor of their physical quality of life. The study investigated several factors for their impact on HRQoL…

sma motor neuron

Changes to Antisense Oligonucleotides May Improve Gene Therapy in SMA

A new study from researchers in Russia and the UK investigated the use of novel biochemical modifications to antisense oligonucleotides (ASOs) for the treatment of spinal muscular atrophy (SMA). The article, published in Nucleic Acid Therapeutics, describes the production of ASOs with novel backbone modifications and evaluated their splice-switching activity in SMA fibroblasts and murine…

distal CCA

Outcomes Worse for Distal Cholangiocarcinoma Patients With Distant Recurrence After Resection

Roughly half of patients with distal cholangiocarcinoma (dCCA) experience recurrence even after R0 pancreaticoduodenectomy surgical resection, according to research published in the Annals of Hepato-Biliary-Pancreatic Surgery. The study also found that patients with distant recurrence (DR) tend to have a more frequent recurrence pattern, with poorer survival than patients who have a locoregional recurrence (LRR). …

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