Tag Archives: nih

Spontaneous cure of rare immune disease

As an adult, the patient contacted NIH’s National Institute of Allergy and Infectious Diseases (NIAID) to evaluate herself and two of her children, who eventually were diagnosed with WHIM syndrome. The patient reported that her symptoms resolved in her 30s, indicating that she had maintained disease remission for nearly 20 years. In their study, NIAID researchers identify chromothripsis, the abrupt fragmentation of a chromosome, as the reason for the cure. …

‘Off switch’ for pain discovered: Activating the adenosine A3 receptor subtype is key to powerful pain relief

The scientific efforts led by Salvemini, who is professor of pharmacological and physiological sciences at SLU, demonstrated that turning on a receptor in the brain and spinal cord counteracts chronic nerve pain in male and female rodents. Activating the A3 receptor — either by its native chemical stimulator, the small molecule adenosine, or by powerful synthetic small molecule drugs invented at the NIH — prevents or reverses pain that develops slowly from nerve damage without causing analgesic tolerance or intrinsic reward (unlike opioids). An Unmet Medical Need Pain is an enormous problem…

Proteins involved in immunity potentially cause cancer

The proteins are part of a group called apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC) cytidine deaminases. The investigators found that APOBEC mutations can outnumber all other mutations in some cancers, accounting for over two-thirds in some bladder, cervical, breast, head and neck, and lung tumors. The scientists published their findings online July 14 in the journal Nature Genetics. Dmitry Gordenin, Ph.D., is corresponding author of the paper and a senior associate scientist at the National Institute of Environmental Health Sciences (NIEHS), part of NIH. …

Gene variants may predict who will benefit from breast cancer prevention drugs

The work represents a major step toward truly individualized breast cancer prevention in women at high risk for the disease based on their age, family history of breast cancer, and personal medical history. "Our study reveals the first known genetic factors that can help predict which high-risk women should be offered breast cancer prevention treatment and which women should be spared any unnecessary expense and risk from taking these medications," said the study’s lead scientist, James N. Ingle, M.D., professor of oncology at the Mayo Clinic in Rochester, Minn. "We also discovered new information about how the drugs tamoxifen and raloxifene work to prevent breast cancer." Ingle and Mayo-based colleagues in the NIH Pharmacogenomics Research Network (PGRN) conducted the study in collaboration with PGRN-affiliated researchers at the RIKEN Center for Genomic Medicine in Tokyo. …