Scientists at the UNC School of Medicine and colleagues have discovered some dramatic effects from a gene variant that could potentially result in a newly defined neurodevelopmental syndrome in children. The research that resulted in this discovery was funded by grants from the National Institutes of Health and the National Ataxia Foundation. Damaris Lorenzo, Ph.D., assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research.
The gene SPTBN1 instructs neurons and other cell types how to make βII-spectrin, a protein with multiple functions in the nervous system. Children carrying these variants can suffer from speech and motor delays, as well as intellectual disability as well as other diagnoses.
“Aside from the immediate relevance to affected patients, insights from our work on SPTNB1 syndrome will inform discoveries in other complex disorders with overlapping pathologies,” Lorenzo said. “It is exciting to be part of such important work with a team of dedicated scientists and clinicians.”
Read the full Carolina Story…
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An international team of researchers on the Karlsruhe Tritium Neutrino Experiment (KATRIN) – including three UNC Department of Physics and Astronomy scientists – have published an article in Nature Physics on a recent discovery concerning neutrino mass measurement.
The team has established a new upper limit of 0.8 eV/c2 for the mass of the neutrino – the lightest known particle – a milestone that will impact future discoveries in nuclear and particle physics and cosmology.
“Neutrinos were long assumed to be massless until now,” said John Wilkerson, John R. and Louise S. Parker Distinguished Professor, director of the Institute for Cosmology, Subatomic Matter and Symmetries and one of three UNC-Chapel Hill participants involved in the Karlsruhe Tritium Neutrino Experiment (KATRIN). “Determining this absolute neutrino-mass scale is vital to our understanding of fundamental interactions, cosmology, astrophysics and ultimately to answering the underlying question on the origin of particle masses.”
Research scientist Tom Caldwell was responsible for data acquisition during the experiment, and postdoctoral research associate Eric Martin also contributed to the experiment.
“The updated limits on the effective anti-electron neutrino mass from KATRIN’s second physics campaign are an exciting new result, an impressive demonstration of the capabilities of the KATRIN apparatus, and the outcome of resolute, coordinated efforts from the international collaboration,” said Caldwell. “It has been a pleasure to build on the UNC group’s KATRIN [data acquisition] efforts, driven by Mark Howe (now retired), and support the KATRIN experiment’s [data acquisition] systems.”
Read the full Carolina Story…"
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While we have made significant progress in deciphering and treating COVID-19, there are still a host of unanswered questions related to the virus.
As we continue to learn more about the virus, we must also continue to explore and survey it. The N.C. General Assembly recognizes this and has allocated $15 million of the latest federal COVID-19 funding to the North Carolina Policy Collaboratory based at Carolina.
“Some of the new funding will go to determining not only the best way to track these variants but also the broadest way to do that, to generate data from across the state of North Carolina and not just at a few key locations,” said researcher Rachel Noble of the Institute of Marine Sciences and the UNC Gillings School of Global Public Health. “We’re out to serve more of North Carolina.”
The General Assembly established the Collaboratory in 2016 to put the research expertise across the UNC System to practical use by state and local governments. This funding will allow that mission to thrive in the realm of coronavirus research.
Read the complete Carolina Story…"
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A new study led by Carolina highlights the heightened risks for COVID-19 patients with obesity and raises concerns about the impact of obesity on the effectiveness of a future vaccine.
This study was conducted by a team of researchers at the UNC Gillings School of Global Public Health in collaboration with a World Bank health and nutrition specialist and was later published in Obesity Reviews.
“We are not saying that the vaccine will be ineffective in populations with obesity, but rather that obesity should be considered as a modifying factor to be considered for vaccine testing,” said co-author Melinda Beck, professor of nutrition at the UNC Gillings School of Global Public Health. “Even a less protective vaccine will still offer some level of immunity.”
Working from home, limiting social visits and a reduction in everyday activities — all in an effort to stop the spread of the virus — means we’re moving less than ever, said lead author Barry Popkin, a professor in the department of nutrition and member of the Carolina Population Center.
“Given the significant threat COVID-19 represents to individuals with obesity, healthy food policies can play a supportive — and especially important — role in the mitigation of COVID-19 mortality and morbidity,” said Popkin.
Read the complete Carolina Story…"
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