Causality versus Pathogenesis
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. One of the points discussed in the book is disease causation, and how we often fool ourselves into thinking that we understand how a disease develops, simply because we can name the gene or agent that precipitates the disease. Here is an excerpt from Chapter 8 [Note: Pathogenesis is the sequence of cellular events that eventually leads to the ...
Source: Specified Life - July 10, 2014 Category: Pathologists Tags: causality cause of disease common disease disease causation heart disease immune disease orphan disease orphan drugs pathogenesis rare disease rheumatic fever rheumatic heart disease strep infection Source Type: blogs
Rare Cancer are Subsets of Common Cancers
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. One of the key ideas developed in the book is that each common diseases is actually an aggregate of cellular processes that are present, individually, in rare diseases. In the case of the common cancers, we can find specific rare diseases that are subsets of the common diseases. Here is an excerpt from Chapter 8: 8.3.3 Inherited syndromes that...
Source: Specified Life - July 9, 2014 Category: Pathologists Tags: cancer syndromes carcinogenesis common cancers common disease familial cancer syndromes genetic disease orphan disease orphan drugs rare cancers rare disease Source Type: blogs
Direct Assault on Advanced Stage Common Cancers Has Not Yielded Cures
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. Here is a short excerpt from Chapter 8: Though there are thousands of types of human cancer, the bulk of cancer cases in humans are accounted for by just a few, under a dozen, types of cancer. The two most commonly occurring cancers of humans are basal cell carcinoma of skin and squamous cell carcinoma of skin. Together, these two tumors account...
Source: Specified Life - July 8, 2014 Category: Pathologists Tags: advanced stage cancer cancer funding cancer priorities cancer research funding common disease cures for advanced stage cancers orphan disease orphan drugs rare disease Source Type: blogs
Rare Diseases and Orphan Drugs: Recent Blogs
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. Over the past several weeks, I've been posting to several different blogs on the subject of rare diseases. Here is the list of my rare disease posts, with links: Developing Diagnostic Tests for Common Diseases: Role of the Rare DiseasesRare Diseases Account for Subsets of Common DiseasesPhenocopy Mimics of Rare Diseases: Lessons for the Common D...
Source: Specified Life - July 7, 2014 Category: Pathologists Tags: clinical trials common diseases complex diseases disease advocates funding opportunities genetic disease orphan diseases orphan drugs rare cancers rare disease organizations rare diseases Source Type: blogs
Phenocopy Mimics of Rare Diseases: Lessons for the 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. The topic of phenocopy diseases was introduced in yesterday's blog post. Phenocopy diseases are medical conditions that closely mimic a genetic disease, but are caused or triggered by an environmental factor. In many cases, phenocopy diseases are non-hereditary and acute. In some cases, the phenocopy disease is reversible when the environmental ...
Source: Specified Life - July 6, 2014 Category: Pathologists Tags: common disease complex disease disease biology genetic disease mimics of disease orphan disease orphan drugs pathogenesis phenocopy disease principles of pathology rare disease Source Type: blogs
Phenocopy Diseases: Their Relationship to 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. Phenocopy diseases are medical conditions that closely mimic a genetic disease, but are caused or triggered by an environmental factor. In many cases, phenocopy diseases are non-hereditary and acute. In some cases, the phenocopy disease is reversible when the environmental trigger is removed or when an appropriate treatment is applied. Here is j...
Source: Specified Life - July 5, 2014 Category: Pathologists Tags: arrhythmia common disease complex disease disease biology genetic disease heart block orphan disease orphan drugs pathogenesis phenocopy disease rare disease Source Type: blogs
What Rare Diseases Teach Us About the Cellular Basis of Aging
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. Chapter 4 explains that much what we think we know about the aging process comes from studying rare diseases of premature aging, such as Hutchinson–Gilford progeria syndrome, Bloom syndrome, Werner syndrome, Cockayne syndrome, dyskeratosis congenita, Fanconi anemia, Wolfram syndrome, and xeroderma pigmentosum. Lessons learned from these rare...
Source: Specified Life - July 4, 2014 Category: Pathologists Tags: ageing aging biology of aging cancer cause of aging cell renewal common disease genetic disease orphan disease orphan drugs rare disease Source Type: blogs
What is the Fundamental Biological Process that Causes Aging?
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. Chapter 4 explains that much what we think we know about the aging process comes from studying rare diseases of premature aging, such as Hutchinson–Gilford progeria syndrome, Bloom syndrome, Werner syndrome, Cockayne syndrome, dyskeratosis congenita, Fanconi anemia, Wolfram syndrome, and xeroderma pigmentosum. From Chapter 4: Based on the obs...
Source: Specified Life - July 3, 2014 Category: Pathologists Tags: ageing aging biology of aging common disease DNA repair orphan disease orphan drugs rare disease Source Type: blogs
Wrinkling and Sagging are Chronic Toxic Processes Not Directly Caused by Aging
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. Chapter 4 tackles the subject of human aging. Much of what we know about the aging process comes from studying rare diseases of premature aging, such as Hutchinson–Gilford progeria syndrome, Bloom syndrome, Werner syndrome, Cockayne syndrome, dyskeratosis congenita, Fanconi anemia, Wolfram syndrome, and xeroderma pigmentosum. The relationshi...
Source: Specified Life - July 2, 2014 Category: Pathologists Tags: ageing aging common disease complex disease genetic disease orphan disease orphan drugs premature aging rare disease sagging skin aging wrinkling 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
Case Reports of Rare Diseases Have General Value
The Case Report (also known as Case Study) is a poorly utilized resource. Every healthcare worker is familiar with case reports; medical journals sometimes contain a section devoted to them. Case reports typically begin with a comment regarding the extreme rarity of the featured disease. You can expect to see phrases such as "fewer than a dozen have been reported in the literature" or "the authors have encountered no other cases of this lesion," or such and such a finding makes this lesion particularly uncommon and difficult to diagnose; and so on. The point that the authors are trying to convey is that the case report...
Source: Specified Life - June 29, 2014 Category: Pathologists Tags: case report case studies case study cholesterol familial heart disease genetic disease heart attack orphan diseases orphan drugs rare diseases what is the purpose of case reports 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
Rare Diseases and Common Diseases can Converge to the Same Clinical Conditions
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. Here is a short excerpt from Chapter 10. As applied to diseases, convergence occurs when different genes, cellular events, exposures, and pathogenetic mechanisms all lead to a similar clinical phenotype. Convergence is found in common diseases and in rare diseases. In the case of systemic responses to injury, convergence may have an evolutionar...
Source: Specified Life - June 26, 2014 Category: Pathologists Tags: common diseases complex diseases disease convergence drug development genetic disease orphan diseases orphan drugs rare disease rare disease models of common diseases rare disease research Source Type: blogs
Rare Disease Legislation in the U.S.
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. Here is a short excerpt from Chapter 14. Many countries have passed legislation ensuring that the rare diseases receive research funding, that pharmaceutical companies are encouraged to produce medications for the rare diseases, and that individuals and families receive necessary medical and emotional support. In the U.S., some of the most impo...
Source: Specified Life - June 25, 2014 Category: Pathologists Tags: drug development fda genetic disease orphan diseases orphan drugs rare disease laws rare disease legislation rare disease research rare diseases u.s. support for rare diseases Source Type: blogs
Definition of Rare Disease
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. Short excerpt from the Introduction chapter: “The beginnings and endings of all human undertakings are untidy.”—John Galsworthy In the U.S., Public Law 107-280, the Rare Diseases Act of 2002 states: “Rare diseases and disorders are those which affect small patient populations, typically populations smaller than 200,000 individuals in th...
Source: Specified Life - June 24, 2014 Category: Pathologists Tags: common diseases definition of rare diseases genetic disease organizations for rare diseases orphan diseases orphan drugs rare disease organizations rare disease research Source Type: blogs
