All articles tagged with #li fraumeni syndrome
A sperm donor with a rare cancer-causing gene mutation fathered at least 197 children across Europe, some of whom have already died from cancer, highlighting the need for stricter genetic screening and regulation of sperm donors.
Lainie Jones, a passionate cancer advocate and survivor of multiple cancers including Li-Fraumeni syndrome, died at 41. She credited early detection for her survival and dedicated her life to raising awareness, supporting others, and promoting cancer research. Her optimism and advocacy left a lasting impact on her community and social media followers.
Ten children conceived with the same sperm donor, who carried a rare genetic mutation linked to cancer, have been diagnosed with cancer, prompting calls for limits on the number of families per donor. The sperm bank confirmed the mutation was present in some of the donor's sperm and used by at least 67 families, raising concerns about genetic disease dissemination and the need for stricter regulations.
Amanda Twinam, a woman with a history of breast cancer and suspected chronic fatigue syndrome, reached out to scientist Paul Hwang at the National Institutes of Health (NIH) for help understanding her debilitating fatigue. This led to a breakthrough discovery in which Hwang and his colleagues found that Twinam's energy problems were caused by an overabundance of a protein called WASF3, which disrupted energy production in her mitochondria. Further research revealed that this protein may also be implicated in chronic fatigue syndrome, offering a potential treatment strategy for the condition. The findings have been published in the journal PNAS and provide hope for the millions of people suffering from chronic fatigue-related illnesses.
Régis Feitosa Mota, a father who tragically lost three children to cancer, has now succumbed to the same disease. Régis, who was born with Li-Fraumeni syndrome, a hereditary condition that increases the risk of developing cancerous tumors, was diagnosed with cancer three times between 2016 and 2023. He passed away on Father's Day in Brazil, leaving behind his devastated wife and family. Li-Fraumeni syndrome carries a high lifetime risk of developing cancer, and Régis' story highlights the heartbreaking impact it can have on families.