Kathleen Folbigg: Daughters may have died of ‘incredibly rare’ genetic mutation as imprisoned mom pardoned

Kathleen Folbigg: Daughters may have died of 'incredibly rare' genetic mutation as imprisoned mom pardoned

Kathleen Folbigg was convicted of the murders of daughters Sarah and Laura and son Patrick, and the manslaughter of another son, Caleb. Twenty years later, a professor called the condition “rare” for her daughters. Monday, June 5, 2023 at 10.24pm, UK British scientists have found that an ‘incredibly rare’ genetic mutation may have been responsible … Read more

Fla. Woman with rare genetic condition lives with more than 100 cancers: ‘I suffer from excruciating pain’ (exclusive)

Fla. Woman with rare genetic condition lives with more than 100 cancers: 'I suffer from excruciating pain' (exclusive)

“When one tumor is removed, it’s like another one grows,” says Michele Holbrook, who is raising awareness on neurofibromatosis for the Children’s Tumor Foundation Craig Warga for the Children’s Cancer Foundation; Courtesy of Michelle Holdbrook Michele Holbrook’s leg had been giving her trouble. I was walking down the street and fell out of nowhere, says … Read more

Explained | The decades-long search for a rare decay of the Higgs boson

Explained |  The decades-long search for a rare decay of the Higgs boson

Last week, physicists working with the Large Hadron Collider (LHC) particle buster at CERN in Europe reported that they had detected a Higgs boson decaying into a Z boson particle and a photon. This is a very rare decay process that tells us important things about the Higgs boson and our universe. The Higgs boson … Read more

More education and training needed to better incorporate genome sequencing for precision medicine in rare diseases

More education and training needed to better incorporate genome sequencing for precision medicine in rare diseases

The future of precision medicine in rare diseases has been explored in a new review published in Journal of Internal Medicine. With the decreasing cost of DNA sequencing, genomic sequencing is emerging as a primary method of precision diagnostics in rare diseases, explained the authors. In this context, molecular diagnoses reveal valuable information on the … Read more

Born Brave: Tipp City first grader battling a rare genetic disease

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Emily wrote this heartbreaking post on Facebook on May 12, while tagging her husband Bradley Blackburn and Grayson’s father Chris Naff. I write this with shaking hands, a pounding heart, and tears on my face. We thought Grayson’s loss of vision was due to Stargardt’s disease. After rounds and rounds of genetic testing, we found … Read more