Q and A: about health and research

Executive Summary We propose the creation of a standardized national or international research framework for patients with suspected autoimmune, post-viral, ME/CFS, Long COVID, dysautonomia, and related conditions. The initiative would combine systematic biological testing, genetic and epigenetic evaluation, and centralized clinical data collection to accelerate the discovery of disease mechanisms, biomarkers, and targeted treatments. The central premise is straightforward: if every patient with suspected autoimmune or post-infectious illness were evaluated using a standardized testing protocol and their clinical information were entered into a shared research database, the pace of scientific discovery could increase dramatically. Data collection could occur in primary care physician (PCP) offices, hospital systems, specialty clinics, academic medical centers, and designated research groups, ensuring broad participation and comprehensive patient representation. Background One of th...

Sapolsky begins by reviewing Bipolar I disorder , a severe psychiatric illness characterized by alternating periods of mania and depression . During mania, people may experience extreme energy, little need for sleep, rapid speech and thoughts, grandiosity, poor judgment, and sometimes psychosis. Bipolar I is associated with abnormalities in circadian rhythms and an extreme sensitivity to reward and motivation systems , and it is highly heritable. He then turns to Bipolar II disorder , often considered the "younger sibling" of Bipolar I. At first glance, Bipolar II appears to be a milder form of the same illness. Instead of full mania, individuals experience hypomania , which involves: Increased energy and productivity Reduced need for sleep Greater confidence, optimism, and sociability More talkativeness and creativity Numerous ideas and plans Unlike the destructive mania of Bipolar I, hypomania may initially seem beneficial or even advantageous. Sapolsky notes that...

Introduction Hereditary Fructose Intolerance (HFI) is a rare inherited metabolic disorder caused by disease-causing mutations in the ALDOB gene . Individuals with HFI are unable to properly break down fructose, resulting in the accumulation of toxic metabolites that can damage the liver, kidneys, and other organs. Symptoms often begin in infancy when fructose-containing foods are introduced into the diet. Animal studies suggest metabolism is reduced in HCC due to loss of fructolytic enzymes such as ALDOB. We show that, in ALDOB-deficient HCC, fructose suppresses tumor growth through F1P-mediated inhibition of MPI. With the increasing popularity of direct-to-consumer genetic testing, many people discover variants in the ALDOB gene, including markers such as i5012665 , which corresponds to rs387906225 (Delta4E4) .  Causes of HFI Hereditary fructose intolerance is caused by mutations in the ALDOB gene, which encodes the enzyme fructose-1-phosphate aldolase B . Depending on the ...