Focal segmental glomerulosclerosis (FSGS) is a kidney disease that leads to renal failure, and it affects individuals from different ancestries, the highest prevalence being among African and African American populations. DNA samples from 726 patients with FSGS were obtained and DNA sequencing was performed in the search of mutations tied to FSGS compared to a large pool of control populations.
Nephronophthisis (NPH) is a recessive cystic kidney disease responsible for 10% to 20% of pediatric end-stage renal disease cases. NPHP1 (nephrocystin 1) is the most frequently implicated among over 20 known causative genes. However, the pathogenesis of NPH remains unclear, and no effective therapies are available.
Multiple endogenous retroviruses (ERVs) in human DNA may be programmed to activate as cancer therapy. A recent study, led by scientists at the Dana-Farber Cancer Institute, expanded on a previously reported case of kidney cancer cure after hematopoietic stem cell transplantation attributed to the expression of an ERV driven by the hypoxia-inducible factor 2 (HIF2). The question was whether this finding might play out with different ERVs and different types of cancer through HIF.