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Patricia Inacio, PhD

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Patricia holds her PhD in cell biology from the University Nova de Lisboa, Portugal, and has served as an author on several research projects and fellowships, as well as major grant applications for European agencies. She also served as a PhD student research assistant in the Department of Microbiology & Immunology, Columbia University, New York, for which she was awarded a Luso-American Development Foundation (FLAD) fellowship.

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Articles by Patricia Inacio, PhD

News

Using Skin Cells, Scientists Create Human Motor Neurons in Study

Today is thursday, September 14. I'm Mike Nace, Executive Editor of SMA News today A cocktail of two microRNAs and two transcription factors is enough to transform human skin cells directly into motor neurons, scientists report — an achievement of potentially considerable importance in understanding such motor neuron diseases as spinal muscular atrophy. Damage to motor neurons underlies several devastating and paralyzing diseases, from SMA to ALS. Scientists have struggled to grow human motor neurons in the lab for research purposes, which is one reason this work is so notable. Researchers were able to convert skin cells from healthy adults into motor neurons. Importantly, this process also didn’t require skin cells to change into stem cells before becoming motor nerve cells. In the current study, the research team further investigated the role of these microRNAs and how they help convert skin cells into motor neurons. It found that the microRNAs identified in the study assist cells in holding at a stage where they are ready to convert to neurons. But they were inactive and need more help. After extensive research, researchers identified two transcription factors — ISL1 and LHX3 — were the missing link. Once added to the mix, skin cells turned into spinal cord motor neurons in about 30 days. The four factors — microRNA-9, microRNA-124, ISL1 and LHX3 — help cells shed their skin cell “genetic identity” and embrace instructions that lead them to becoming motor nerve cells, scientists said. The converted motor neurons showed a similar genetic profile — in terms of gene activation and how they work — to mouse motor neurons. How well their genetic profile compares to human motor neurons is still a question, because these cells are very difficult to obtain from living adults. Future studies will let researchers determine how well their converted motor neurons match natural human motor neurons.

News

Valproic Acid Combo Therapy Fails to Improve Survival of SMA Type I Infants, Clinical Trial Shows

Some discouraging news for the SMA community, as, according to the results of the CARNIVAL clinical trial, Valproic acid, also known as VPA, combined with L-carnitine does not improve the survival of SMA type I patients Previous studies suggested that VPA is a potential therapeutic candidate for SMA. In the CARNIVAL Type I trial, researchers led by Boston's Massachusetts General Hospital set out to investigate the safety and therapeutic potential of VPA, combined with L-carnitine, in infants with SMA. L-carnitine is a compound involved in cellular energy production. The Phase 2 study enrolled 37 infants with SMA type I aged two weeks to 12 months from seven clinics in the United States and Canada, and one in Germany. Cure SMA and Cure SMA Canada funded the study for the North American sites. Patients completed two screening visits within a two-week period to establish disease parameters at baseline. The babies then received two daily doses of L-carnitine and VPA. Researchers measured treatment effects at three and six months and compared them to an untreated, matched disease group of 57 type I infants. They chose controls retrospectively from a larger cohort of 151 SMA type I infants enrolled in the  University of Utah's Project Cure SMA database. The study's primary endpoint was to determine the treatment's safety and adverse effects. Secondary endpoints included survival, time to death or ventilator dependence, defined as more than 16 hours of ventilator support per day. Researchers detected 245 adverse effects, mostly related to respiratory problems, in 95 percent of patients. These resulted in 14 deaths. Overall, the CARNIVAL Type I trial proves no survival benefit for infants with SMA type I treated with L-carnitine/VPA.