New wave of precision medicines amplify or silence genes, without altering genetic code

Teeth may seem like static fixtures, but a new collaboration between engineers and clinicians is proving just how dynamic, informative and medically significant our teeth can be.

In a study, published in ACS Applied Materials & Interfaces, engineers and dentists come together to uncover how teeth, as biological material, hold key information for understanding rare craniofacial disorders that develop during childhood.

Kyle Vining, Assistant Professor in Materials Science and Engineering (MSE) and in Preventive and Restorative Science at Penn Dental Medicine, leads this interdisciplinary team, which includes Yuchen (Tracy) Jiang, a former master’s student in MSE, Kei Katsura, a pediatric dentist and KL2 postdoctoral research scholar at Children’s Hospital of Philadelphia (CHOP) and the Institute of Translational Medicine and Therapeutics at Penn, and Elizabeth Bhoj, Assistant Professor of Pediatrics in Penn Medicine and the Division of Human Genetics at CHOP.

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked. A new study, led by researchers at Washington University School of Medicine in St. Louis, takes a deep dive into inherited cancer mutations measured in a healthy blood sample and reports how those mutations might take a toll on the body’s cells starting at birth, perhaps predisposing a person to develop cancers at various stages of life.

The authors analyzed the inherited genomes of more than 1,000 cancer patients and determined how inherited mutations — also known as germline variants — result in malfunctioning proteins, which in turn can impair physiological activities. The findings have implications for determining an individual’s inherited cancer risk and informing potential new strategies for prevention, early detection and treatment.

The study appears April 14 in the journal Cell.

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Findings could help predict cancer risk over a person’s lifetime, develop prevention strategies.

Eight healthy babies have been born in the UK using a new IVF technique that successfully reduced their risk of inheriting genetic diseases from their mothers, the results of a world-first trial said Wednesday.

The findings were hailed as a breakthrough which raises hopes that women with mutations in their mitochondrial DNA could one day have children without passing debilitating or deadly diseases on to the children.

One out of every 5,000 births is affected by mitochondrial diseases, which cannot be treated, and include symptoms such as impaired vision, diabetes and muscle wasting.

To analyze the genome of pancreatic cancer cells, NIST researchers used 13 distinct state-of-the-art whole genome measurement technologies, some of which were only recently developed.

Each method identifies the sequence of DNA nucleotides — adenine (A), cytosine ©, guanine (G) and thymine (T) — in an individual’s genome. However, the methods produce slightly varying results and have different strengths and weaknesses.

NIST’s dataset contains separate results for each of the 13 techniques used to sequence the cancer genome. Scientists performing their analysis can compare their data with NIST’s. If there are discrepancies, they can then determine whether their equipment is working properly and remedy the problem if not.