Hidden mutation leads to groundbreaking genetic discovery
Apr 3, 2025 · Naveen Pereira, M.D. He found that Tennant had one known disease-causing mutation in a gene responsible for producing an enzyme that prevents substances from …
APOE Mutation Associated With Reduced Alzheimer’s Disease Risk
Oct 20, 2021 · The apolipoprotein E, or APOE, gene is the strongest genetic risk factor for developing Alzheimer's disease. However, a rare variant of this gene that was previously …
Newly discovered genetic variants in a single gene cause ...
Jul 1, 2021 · ROCHESTER, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a …
Identifying inherited gene mutations in pancreatic cancer can lead …
Nov 24, 2022 · Identifying hereditary gene mutations in pancreatic cancer can help determine individualized treatments and potentially prolong survival, according to new Mayo Clinic Center …
Mayo Clinic Q and A: Understanding and managing familial ...
Apr 18, 2017 · The gene mutation that causes familial hypercholesterolemia is passed from parent to child. Children with familial hypercholesterolemia inherit a defective copy of the gene …
Groundbreaking discovery links inherited mutation to fatty liver ...
Apr 22, 2025 · Video: A healthy liver transitions to cirrhosis, illustrating a potential outcome of metabolic dysfunction-associated steatotic liver disease — formerly known as nonalcoholic …
Mayo Clinic discovers gene mutations linked to pancreatic cancer, …
Jun 19, 2018 · ROCHESTER, Minn. — Six genes contain mutations that may be passed down in families, substantially increasing a person’s risk for pancreatic cancer. That's according to …
Mayo study finds colon cancer driven by hereditary gene …
Apr 19, 2021 · A genetic mutation can cause a gene to malfunction and lead to a cell becoming cancerous. Although many mutations that cause cancer happen by chance in a single cell, the …
Mayo Clinic AI tool finds early signs of blood mutations linked to ...
Jul 30, 2025 · But if one of those cells acquires a mutation in a gene linked to blood cancer, it can multiply abnormally, forming a cluster of mutated cells that gradually expands. This can cause …
Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited ...
Nov 2, 2020 · A genetic mutation can cause a gene to malfunction and lead to a cell becoming cancerous. Although many mutations that cause cancer happen by chance in a single cell, the …