Developing Diagnostic Tests for Common Diseases: Role of the Rare Diseases
The objective of minimal residual disease surveillance is to determine whether there are any traces of disease, not observable by standard clinical examination, that persist following treatment. The objective of recurrence surveillance is to determine whether a disease has recurred after remission.When we review these various new diagnostic activities, we see that they recapitulate the steps of disease pathogenesis: the conditions that place an individual at risk of developing disease, the earliest steps in pathogenesis, the development of precursor lesions, response pathways, and disease progression. New laboratory tests ...
Source: Specified Life - June 23, 2014 Category: Pathologists Tags: biomarkers clinical pathology complex diagnoses genetic disease molecular tests new biomarkers orphan diseases orphan drugs rare diseases Source Type: blogs

Rare Diseases Account for Subsets of 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. One of the key messages of the book is that common diseases are complex, with multiple causes, lots of associated gene variations, many different aberrant pathways, and affecting heterogeneous populations (e.g., subsets of people who seem to have clinically distinctive forms of the same disease, or subsets of people who respond quite different...
Source: Specified Life - June 22, 2014 Category: Pathologists Tags: cellular pathways common genetic disease complex diseases disease pathways heterogeneous subsets of disease orphan diseases orphan drugs rare diseases Source Type: blogs

Condensed Principles of Big Data
Last night I re-read yesterday's post (Toward Big Data Immuntability), and I realized that there really is no effective way to use this blog to teach anyone the mechanics of Big Data construction and analysis.  My guess is that many readers were confused by the blog, because a single post cannot provide the back-story to the concepts included in the post.So, basically, I give up.  If you want to learn the fundamentals of Big Data, you'll need to do some reading  I would recommend my own book, Principles of Big Data: Preparing, Sharing, and Analyzing Complex Information.  Depending on your backgroun...
Source: Specified Life - June 6, 2013 Category: Pathologists Source Type: blogs

Toward Big Data Immutability
Today's blog continues yesterday's discussion of Big Data Immutability.Big Data managers must do what seems to be impossible; they must learn how to modify data without altering the original content.  The trick is accomplished with identifiers and time-stamps attached to event data (and yes, it's all discussed at greater length in my book, Principles of Big Data: Preparing, Sharing, and Analyzing Complex Information).In today's blog, let's just focus on the concept of a time-stamp. Temporal events must be given a time-stamp indicating the time that the event occurred, using a standard measurement for time. The time-st...
Source: Specified Life - June 5, 2013 Category: Pathologists Source Type: blogs

Consequences Of Data Mutability
Today's blog, like yesterday's blog, is based on a discussion in Principles of Big Data: Preparing, Sharing, and Analyzing Complex Information. The book's table of contents is shown in an earlier blog. Here is an example of a immutability problem:  You are a pathologist working in a university hospital that has just installed a new, $600 million information system. On Tuesday, you released a report on a surgical biopsy, indicating that it contained cancer. On Friday morning, you showed the same biopsy to your colleagues, who all agreed that the biopsy was not malignant, and contained a benign condition that simulated...
Source: Specified Life - June 4, 2013 Category: Pathologists Source Type: blogs

Big Data Is Immutable
Today's blog, like yesterday's blog, is based on a discussion in Principles of Big Data: Preparing, Sharing, and Analyzing Complex Information.  The book's table of contents is shown in an earlier blog.excerpt from book: "Everyone is familiar with the iconic image, from Orwell's 1984, of a totalitarian government that watches its citizens from telescreens. The ominous phrase, "Big Brother is watching you," evokes an important thesis of Orwell's masterpiece; that a totalitarian government can use an expansive surveillance system to crush its critics.  Lest anyone forget, Orwell's book had a second thesis, tha...
Source: Specified Life - June 3, 2013 Category: Pathologists Source Type: blogs

Big Data Versus Massive Data
This post is based on a topic covered in Big Data: Preparing, Sharing, and Analyzing Complex Information, by Jules J Berman.In yesterday's blog, we discussed the differences between Big Data and small data.  Today,   I wanted to briefly discuss the differences between Big Data and massive data.Big Data is defined by the three v's: 1. Volume - large amounts of data;.2. Variety - the data comes in different forms, including traditional databases, images, documents, complex records;.3. Velocity - the content of the data is constantly changing, through the absorption of complementary data collections, through th...
Source: Specified Life - June 2, 2013 Category: Pathologists Source Type: blogs

Differences between Big Data and Small Data
Excerpt Principles of Big Data: Preparing, Sharing, and Analyzing Complex Information,by Jules J Berman (see yesterday's blog).Big Data is very different from small data.  Here are some of the  important features that distinguish one from the other.1. Goalssmall data-Usually designed to answer a specific question or serve a particular goal. Big Data-Usually designed with a goal in mind, but the goal is flexible and the questions posed are protean. 2. Locationsmall data-Typically, small data is contained within one institution, often on one computer, sometimes in one file. Big Data-Typically sp...
Source: Specified Life - June 1, 2013 Category: Pathologists Source Type: blogs

Big Data Book Explained
My Big Data book In yesterday's blog, I announced the publication of my new book, Principles of Big Data, 1st Edition: Preparing, Sharing, and Analyzing Complex Information.  Here is a short essay describing some of the features that distinguish this Big Data book from all of the others.The book describes:How do deal with complex data objects (unstructured text, categorical data, quantitative data, images, etc.), and how to extract small data sets (the kind you're probably familiar with), from Big Data resources.How to create Big Data resources in a legal, ethical and scientifically sensible ma...
Source: Specified Life - May 31, 2013 Category: Pathologists Source Type: blogs

Big Data Book Contents
Conclusions Are Asserted 164 Step 9. Conclusions Are Examined and Subjected to Validation 16412. Failure Background 167 Failure Is Common 168 Failed Standards 169 Complexity 172 When Does Complexity Help? 173 When Redundancy Fails 174 Save Money; Don’t Protect Harmless Information 176 After Failure 177 Use Case: Cancer Biomedical Informatics Grid, a Bridge Too Far 17813. Legalities Background 183 Responsibility for the Accuracy and Legitimacy of Contained Data 184 Rights to Create, Use, and Share the Resource 185 Copyright and Patent Infringements Incurred by Using Standards 187 Protections for Individuals...
Source: Specified Life - May 30, 2013 Category: Pathologists Source Type: blogs

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Conclusions Are Asserted 164 Step 9. Conclusions Are Examined and Subjected to Validation 16412. Failure Background 167 Failure Is Common 168 Failed Standards 169 Complexity 172 When Does Complexity Help? 173 When Redundancy Fails 174 Save Money; Don’t Protect Harmless Information 176 After Failure 177 Use Case: Cancer Biomedical Informatics Grid, a Bridge Too Far 17813. Legalities Background 183 Responsibility for the Accuracy and Legitimacy of Contained Data 184 Rights to Create, Use, and Share the Resource 185 Copyright and Patent Infringements Incurred by Using Standards 187 Protections for Individuals...
Source: Specified Life - May 30, 2013 Category: Pathologists Source Type: blogs