Are common causes of progressive kidney disease regulated by genes?
Many common diseases, including nephropathy, cluster in families, and genetic variants seem likely to regulate disease pathogenesis (1). Until recently, convincing evidence that common disease genes exist has been lacking. Much of the difficulty in identifying genes for common diseases, such as diabetic nephropathy, sporadic FSGS, and nephrosclerosis, arises from the genetic architecture responsible for common diseases, which differs from that of Mendelian disorders.
Most of us learned about Mendel and his peas in medical school. The success of gene mapping for Mendelian disorders, such as polycystic kidney
John Sedor, Matthias Kretzler, and Denise L. Taylor-Moon
The main goal of the Nephrotic Syndrome Study Network, NEPTUNE, is to build a translational research infrastructure for diseases manifesting as nephrotic syndrome (NS), which includes focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD), and membranous nephropathy (MN) (1). The network of investigators from 21 academic centers across the United States and Canada, and two patient interest groups, the NephCure Foundation and the Halpin Foundation, have worked closely together to study these rare glomerular diseases. Despite their rarity, these diseases generate enormous individual, societal, and economic burdens. The current classification of NS fails to capture the molecular
Laura H. Mariani, Laura Barisoni, Debbie S. Gipson, Lawrence B. Holzman, Crystal Gadegbeku, John R. Sedor, and Matthias Kretzler
Patients with newly diagnosed nephrotic syndrome due to minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and membranous nephropathy (MN) display an impressive amount of variability in disease severity, symptom burden, response to initial therapy, and risk of relapse. Although this heterogeneity is a clinical challenge—frustrating patients and clinicians alike—it is also an opportunity for researchers to partner with patients under routine clinical care to collect the data and bio-samples needed to better define mechanistically relevant subgroups. The Nephrotic Syndrome Study Network (NEPTUNE) is a North American multi-center collaborative consortium that was established to develop such a translational research infrastructure
Raymond C Harris MD CoChair of the Kidney Health Initiative and John R Sedor MD Chair of the KidneyX Steering Committee
“We are going to prioritize a truly transformative goal: the development of an artificial kidney." - President Donald J. Trump
Last week, the Department of Health Human Services (HHS) and the White House announced a set of sweeping new policies, initiated by the leadership of HHS Secretary Alex Azar II, intended to improve the lives of the 37,000,000 people in the United States with kidney diseases. This is a nearly unprecedented level of government investment and national attention for kidney diseases. As a result, people with kidney diseases have real reason to hope that treatment options will improve for them and future kidney patients.