Tag: Disease

Mitochondrial DNA Could Predict Risk for Sudden Cardiac Death, Heart Disease

Johns Hopkins researchers report that the level, or “copy number,” of mitochondrial DNA—genetic information stored not in a cell’s nucleus but in the body’s energy-creating mitochondria—is a novel and distinct biomarker that is able to predict the risk of heart attacks and sudden cardiac deaths a decade or more before they happen. In the future, testing blood for this genetic information could not only help physicians more accurately predict a risk for life-threatening cardiac events, but also inform decisions to begin—or avoid—treatment with statins and other drugs. read more

Faster Diagnosis of Inherited and Lethal Nerve Disease Could Advance Search for New Treatments

Johns Hopkins physicians report success in a small study of a modified skin biopsy that hastens the earlier diagnosis of an inherited and progressively fatal nerve disease and seems to offer a clearer view of the disorder’s severity and progression. With a quicker and less invasive way to visualize the hallmark protein clumps of the rare but lethal disease — familial transthyretin amyloidosis — the researchers say they hope to more rapidly advance clinical trials of treatments that may slow the disease and extend patients’ lives. read more

Protein That Regulates Brain Cell Connections Could Be New Target for Treating Alzheimer’s Disease

In experiments with a protein called Ephexin5 that appears to be elevated in the brain cells of Alzheimer’s disease patients and mouse models of the disease, Johns Hopkins researchers say removing it prevents animals from developing Alzheimer’s characteristic memory losses. In a report on the studies, published online March 27 in The Journal of Clinical Investigation, the researchers say the findings could eventually advance development of drugs that target Ephexin5 to prevent or treat symptoms of the disorder. read more

16 Aplastic Anemia Patients Free Of Disease After Bone Marrow Transplant and Chemo

Physicians at the Johns Hopkins Kimmel Cancer Center report they have successfully treated 16 patients with a rare and lethal form of bone marrow failure called severe aplastic anemia using partially matched bone marrow transplants followed by two high doses of a common chemotherapy drug. In a report on the new transplant-chemo regimen, published online Dec. 22, 2016, in Biology of Blood and Marrow Transplantation, the Johns Hopkins team says that more than a year after their transplants, all of the patients have stopped taking immunosuppressive drugs commonly used to treat the disorder and have no evidence of the disease. read more