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
Where Next for Cellular Reprogramming and Regenerative Medicine?
Over the past decade researchers have gained ever more expertise in reprogramming cells from one type to another. The most useful form of reprogramming devised so far is the change from normal differentiated somatic cell, fixed in its role, to pluripotent stem cell, capable of generating any type of cell given the right instructions. Surprising recent developments in this line of research include (a) evidence that performing this transformation in a living animal is beneficial rather than cancerous, producing effects similar to those resulting from a stem cell transplant, and (b) that reprogramming cells to pluripotency er...
Source: Fight Aging! - February 2, 2018 Category: Research Authors: Reason Tags: Daily News Source Type: blogs
Precision Medicine and the Reinvention of Human Disease (Book Index)
In January, 2018, Academic Press published my bookPrecision Medicine and the Reinvention of Human Disease. This book has an excellent " look inside " at itsGoogle book site, which includes the Table of Contents. In addition, I thought it might be helpful to see the topics listed in the Book ' s index. Note that page numbers followed by f indicate figures, t indicate tables, and ge indicate glossary terms.AAbandonware, 270, 310geAb initio, 34, 48ge, 108geABL (abelson leukemia) gene, 28, 58ge, 95 –97Absidia corymbifera, 218Acanthameoba, 213Acanthosis nigricans, 144geAchondroplasia, 74, 143ge, 354geAcne, 54ge, 198, 220geAcq...
Source: Specified Life - January 23, 2018 Category: Information Technology Tags: index jules berman jules j berman precision medicine Source Type: blogs
Looking Back and Ahead in the Use of Pluripotent Stem Cells in Medicine
There are a few papers and commentaries that you might find interesting in the latest issue of Regenerative Medicine. The one I'll point out here offers a retrospective and a forecast for the use of pluripotent stem cells in medicine. It is authored by one of the more outspoken figures from the last decade of research and development, but is worth reading regardless of that point. All industries tend to follow what has come to be known as a hype cycle as they reach critical mass and transition into broad adoption and large scale development. Stem cell medicine as a whole had its initial peak of attention and overhyped expe...
Source: Fight Aging! - December 15, 2016 Category: Research Authors: Reason Tags: Medicine, Biotech, Research Source Type: blogs
What it means to meet Mikey
You know those really good people, the ones who are determined to make the world a better place? I’m not one of those. I live in the Nation’s Capital – a beehive for the cause-oriented – so I know a really good person when I see one. I have colleagues who tithed their babysitting money. Who spent their college downtime standing up global nonprofits. Who mentor and tutor and build habitats for humanity.
I spent my babysitting money on ill-considered teenage clothing. I spent my college downtime playing quarters. And until recently, my adulthood has been, for all intents and purposes, volunteerism-free. ...
Source: Disruptive Women in Health Care - April 27, 2016 Category: Consumer Health News Authors: dw at disruptivewomen.net Tags: Advocacy Children Chronic Conditions Source Type: blogs
When the Clinicians Have Had Enough but the Family Wants to Go On
Joel Frader delivered a webinar, this afternoon, for Children's Mercy Bioethics: "When the Clinicians Have Had Enough but the Family Wants to Go On." Here are my notes.
Conflicts between professional values
and family values should “in general” be resolved in favor of the family. Exceptions are few and far between. Maybe not even “brain death” is an example. But an example would be epidermolysis bullosa.
Clinicians have a bias for valuing
cognitive skills. But others value the person no matter their cognitive abilities or ability to interact with their environment.
If ...
Source: blog.bioethics.net - December 4, 2015 Category: Medical Ethics Authors: Thaddeus Mason Pope Tags: Health Care medical futility blog syndicated Source Type: blogs
Disease complexity: rare diseases and common diseases
In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases. In most cases, rare genetic diseases are produced by a single mutation in a single gene, to produce a rare disease that typically develops early in life, often with a rather uniform clinical presentation. In Chapter 7, some of the complexities of single-gene disorders are discussed. Here is an excerpt: A single gene may produce a protein produ...
Source: Specified Life - July 1, 2014 Category: Pathologists Tags: Beckwith-Wiedemann common disease complex diseases disease complexity genetics of disease monogenic disease orphan disease orphan drugs polygenic disease rare disease Wiskott-Aldrich Source Type: blogs
When Rare Diseases and Common Diseases Converge to Same Clinical Picture
In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases. In yesterday's blog, we discussed by a rare disease and a common disease may both have the same clinical presentation, a phenomenon that I call disease convergence. The short explanation for disease convergence is that there are a limited number of ways that the body can respond to malfunctions. Here is an excerpt from Chapter 10, in which dise...
Source: Specified Life - June 27, 2014 Category: Pathologists Tags: common diseases complex diseases convergence disease convergence disease pathway disease phenotype genetic disease rare disease models of common diseases Source Type: blogs
Itching: More Than Skin-Deep - NYTimes.com
The experiment was not for the squirmish. Volunteers were made to itch like crazy on one arm, but not allowed to scratch. Then they were whisked into an M.R.I. scanner to see what parts of their brains lit up when they itched, when researchers scratched them and when they were finally allowed to scratch themselves.
The scientific question was this: Why does it feel so good to scratch an itch?
"It's quite intriguing to see how many brain centers are activated," said Dr. Gil Yosipovitch, chairman of dermatology at the Temple University School of Medicine and director of the Temple Center for Itch (he conducte...
Source: Psychology of Pain - February 18, 2014 Category: Psychiatrists and Psychologists Source Type: blogs
