Hunting Disease-Causing Genetic Variants
Dr. Miriam Meisler. Credit: University of Michigan Medical School. “In my lab, we’ve been gene hunters—starting with visible phenotypes, or characteristics, and searching for the responsible genes,” says Miriam Meisler, Ph.D., the Myron Levine Distinguished University Professor at the University of Michigan Medical School in Ann Arbor. During her career, Dr. Meisler has identified the functions of multiple genes and has shown how genetic variants, or mutations, can impact human health. Becoming a Scientist Dr. Meisler had a strong interest in science as a child, which she credits to “growing up at the tim...
Source: Biomedical Beat Blog - National Institute of General Medical Sciences - June 29, 2022 Category: Research Authors: Chrissa Chverchko Tags: Being a Scientist Genes Injury and Illness Diseases DNA Profiles Research Organisms Scientific Process Source Type: blogs

Inscrutable Genes
" In most cases, the molecular consequences of disease, or trait-associated variants for human physiology, are not understood. " from: Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747 –53. The 1960s was a wonderful decade for the field of molecular genetics. Hundreds of inherited metabolic diseases were being studied. Most of these diseases could be characterized by a simple inherited mutation in a disease-causing gene. Back then, we thought we understood genetic diseases. Here ’s how it all might have worked, if life ...
Source: Specified Life - February 15, 2018 Category: Information Technology Tags: genetic heterogeneity genetics multi-step pathogenesis precision medicine Source Type: blogs

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): MRI
Discussionby Dr MGK Murthy, Dr GA PrasadChronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is characterized clinically by a progressive or relapsing course of many months to years of symptoms similar to compressive myelopathy.Etiology Remains unknown, but T-cell activation in nerves plays an important role in the pathogenesis of CIDP& antigens in Schwann cells have been identified.PathologicallyCIDP is characterized by mononuclear cell infiltrates, edema, segmental demyelination, and remyelination&“onion bulb formation” which describes enlarged fascicles with increased endoneural connective t...
Source: Sumer's Radiology Site - December 12, 2017 Category: Radiology Authors: Sumer Sethi Source Type: blogs

Waiting Room Neurology • UCEM
LITFL: Life in the Fast Lane Medical Blog LITFL: Life in the Fast Lane Medical Blog - Emergency medicine and critical care medical education blog Last update: May 9, 2017 @ 9:59 am The Utopian College of Emergency for Medicine (UCEM) is devoted to keeping up with the latest evidence, techniques and iOS updates to ensure that waiting room medicine is at the forefront of critical care applied within the adverse environments of war zones, natural disasters and public hospitals. In an effort to combat that most pertinacious of symptoms ‘the chronic headache‘ – UCEM have scoured all the available information ...
Source: Life in the Fast Lane - May 9, 2017 Category: Emergency Medicine Authors: Tom Cassidy Tags: Neurology Utopian Medicine chronic headache iWR SPGB sphenopalatine ganglion block UCEM Waiting Room Medicine Source Type: blogs

Why Do Women Matter in the Unfolding of Precision Care for Kids?
It’s great to be posting once again for Disruptive Women in Health Care and to be writing about Precision Care, a concept in which patient care is tailored to each individual’s unique characteristics.  I’ve taken a five year break and it’s amazing to look back at my prior posts.  In 2010, I wrote…”the promise of the $1,000 genome is over the horizon. …Yet while this addresses technological innovation, does it deliver impact on health care?”  Now in 2015, both the $1,000 genome is here (at least the sequencing portion) and the work ongoing at my company, Claritas Genomics delivers genome knowledge tha...
Source: Disruptive Women in Health Care - November 18, 2015 Category: Consumer Health News Authors: dw at Tags: Genetics Source Type: blogs

Can a 5-year-old refuse treatment: The Case of Julianna Snow
by Craig Klugman, Ph.D. Julianna Snow is a 5-year-old who suffers from Charcot-Marie-Tooth disease, a neurodegenerative illness. This is the most common of all inherited neurological disorders (about 1 in 2,500 people have it). The disease usually is noticed in adolescence or early adulthood. For Julianna, the disease affects not only movement but swallowing and breathing. She is subjected to NT suctioning every few hours to remove the mucus that accumulates. Her decline was rapid and severe. Michelle and Steve Snow have written extensive blogs about their experiences and conversations.… (Source:
Source: - October 28, 2015 Category: Medical Ethics Authors: Craig Klugman Tags: Clinical Ethics End of Life Care Featured Posts Pediatrics Julianna Snow paternalism refusal Source Type: blogs