A team of researchers at the University of Rochester Medical Center was instrumental in the recent approval by the Food and Drug Administration (FDA) of a new drug to treat Huntington’s disease. 

The FDA approval was based on the results of KINECT-HD, a phase 3, randomized, double-blind, placebo-controlled study that enrolled 128 participants at 46 sites across North America in collaboration with the Huntington Study Group (HSG) and Neurocrine Biosciences. The Medical Center’s Center for Health + Technology (CHeT) served as the key contract research organization for the study, providing project and data management, monitoring, and quality assurance services.

The results of the KINECT-HD clinical trial appeared in The Lancet Neurology in June. The study showed that valbenazine—a drug previously approved to treat tardive dyskinesia—alleviated chorea, the involuntary movements that are a common and often debilitating symptom of Huntington’s disease.

Learn more about the work.

A microscope image of a snail embryo that shows the segregation of fat in the form of lipid droplets (green) versus protein in the form of storage organelles called yolk vesicles (magenta). (University of Rochester image / Marcus Kilwein and T. Kim Dao)

A mother’s egg provides abundant nutrients that are essential for an embryo to develop. But does it matter where in the developing embryo those nutrients are stored?

In a series of papers, Michael Welte, a professor in the Rochester’s department of biology, tackles this question. The studies were spearheaded by Marcus Kilwein, a former graduate student in Welte’s lab.

In the first paper, published in the journal Development, Welte and Kilwein studied three main categories of nutrients in Drosophila (fruit fly) eggs: protein, fat, and carbohydrates. Within four hours after fertilization, fat and protein are segregated into different types of cells. The fate of carbohydrates was previously unknown.

The researchers found that carbohydrates also get segregated from the fat, into the same cells that receive protein. This segregation requires that fat and carbohydrates move independently from each other.

Kilwein and Welte discovered that a protein present on lipid droplets—storage units for energy in the form of lipids or fats—is necessary to keep fat and carbohydrates apart. When this protein is missing, fat and carbohydrate packages bind to each, fail to segregate, and end up together with the protein in the same cell. The result is an embryo that struggles to use fat effectively, with dire consequences for the embryo’s development.

The second paper, published in the journal PLoS Genetics, explores why it is crucial that fat is segregated from carbohydrates and proteins.

Find out what happens when nutrient segregation is disrupted.

(Getty Images)

New recommendations for decision-making in pediatric medicine center the child and their parents.

For the past 30 years, pediatric medical decision-making has claimed to be based on the “best interest of the child.” The new recommendations reframe the discussion by omitting “best” and focusing instead on the “child’s interests.”

The updated recommendations encourage physicians and parents to collaborate in a shared decision-making process that acknowledges that children have a plethora of interests (including, but not limited to medical) that influence their well-being.

The recommendations also stray from past guidance by starting with the presumption that parents know best. Flipping the script from the traditional playbook—where doctors know best—the new principles advise physicians to respect parents’ knowledge of their child and trust them to use it to make the right choices for their family.

Published in the journal Pediatrics, the six new consensus recommendations were conceived by a group of medical and ethics experts led by Lainie F. Ross, chair of health humanities and bioethics at the University of Rochester Medical Center, with Erica Salter of St. Louis University and D. Micah Hester of the University of Arkansas for Medical Sciences.

The recommendations distinguish between “best” and “good enough.”

With new leadership and a renewed focus on their mission, Research IT is supporting researchers across the Medical Center by helping them remain secure, solve their technology challenges, and develop innovations to accelerate their work.

The Office of Research IT—previously Research and Academic IT—has a new name, a new home in the University’s Clinical and Translational Science Institute (UR CTSI), and new leadership under codirectors Mike Conklin and Yvonne M. Watson. The office is renewing its commitment to help all researchers across the Medical Center leverage technology to improve research outcomes.

Find out more about their work.

Tuesday, September 19, 4–5 p.m.
Thursday, September 28, 1–2 p.m.
315 Science Parkway, Entrance C

Join Anton Porsteinsson, director of the Alzheimer’s Disease Care, Research, and Education Program (AD-CARE) , and Emily Clark, associate director of AD-CARE, for an informative in-person presentation about Alzheimer’s disease, research developments, and prevention research opportunities.