The Iron Chip: A good example of "biology meets computer" via microarray

Got to love hyperlinking. It takes you to so many interesting places. Like this lecture on a common genetic disorder which also explains how chips called microarrays can be made to detect biological substances, like proteins.

This one hour video-taped lecture from one of the world’s leading experts on the subject, Professor Martina Muckenthaler, PhD., Head of Molecular Medicine at the University of Heidelberg is a real geek-treat. What is particularly like about this video is:

a. the professor’s superb pedagogical style as she leads her audience of university students from a simple introduction to hemochromatosis to a detailed explanation of its mechanisms at the molecular level, followed by the technology she has been developing to perform her research.

b. the English subtitles, which are very well done and a great example of going the extra mile to share knowledge and information.

Even if you watch just the first 15 minutes you will get a good sense of why the world needs to know more about haemochromatosis (the British English version of the spelling is used in the subtitles). Hemochromatosis is not easy to explain and I'm speaking as one who has spent a lot of time trying to explain it (mainly because my wife has it). So I was delighted to encounter this video in my ongoing ferreting out of useful information about this debilitating, frequently misdiagnosed, and potentially fatal condition.

Every person needs to do as much self-education as possible when it comes to their health. For example, if you have learned through genetic testing that you have mutant alleles of the HFE gene (C282Y and H63D) then this video will help you understand what that means.

To watch the video, click the image above or use this direct link (http://cdsweb.cern.ch/record/1136907) which I encourage you to share. There is also a paper here on the technology of microarrays. And Wikipedia has an entry on DNA microarrays that I found quite helpful.

April 16 Was SSDI Day: Apply for disability now, before it's too late!

That's right, April 16 was SSDI Day in America! Time to encourage any disabled people that you know to apply for disability, before it's too late!

SSDI stands for Social Security Disability Insurance. If you are paid via W2 then the money to pay for SSDI is taken out of every paycheck. If you are self-employed you pay SSDI with your taxes, and tax returns are due April 15, so I figure April 16 should be SSDI Day.

Did you miss SSDI Day this year? Me too. That's because I just made it up.

But the problem that SSDI Day addresses is real. Millions of Americans who are disabled to the point where they cannot work are denied the disability pay for which they had been paying premiums. That means you can pay the mandatory disability insurance to the government for 25 years, get sick, become disabled, yet fail to get a single penny in disability payments.

How could that happen? Because you have to keep earning to stay qualified for SSDI. If you work less than 5 out of the 10 years leading up to your claim you do not qualify. In a recent unscientific poll of random friends and neighbors I got the strong impression that a lot of Americans don't know this.

This is not just a problem for people of a certain age. Studies show that a 20-year-old worker has a 3-in-10 chance of becoming disabled before reaching retirement age.

That's why I thought it would be a great idea to create a Disability Insurance Awareness Day on the day after you pay your taxes. So, each year, on April 16, you should point out the problems discussed here to anyone you know who is not earning any money because they are too sick to work.

The Problems?

• Some disability happens quickly but other disability comes on gradually.


• Many Americans struggle on with their lives despite sickness.


• Too many Americans fail to observe the 5/10 SSDI rule.


• They try to get by or depend on friends and relatives.


• When they finally apply for SSDI they are not eligible.

How do I know this? Because it happened to someone I know: My wife. She became too sick to hold down a regular office job around 2001. She turned to writing to generate income. After taking expenses into account the writing did not generate net income, partly because she was too sick to carry through with the promotion of her books. So she turned to art. She produced some great paintings and photography, but again, ran out of steam before generating any net income from this avenue.

And she got sicker. Concentration was a challenge. Episodes of aphasia complicated communication (technically dysphasia but not dysphagia). Mobility became limited and I would say she is now about 6.0 on the EDSS scale. Clearly she is unable to do anything to earn money. But her claim for disability was denied. Despite spending over 25 years in the workforce and paying into the disability fund, she had not earned enough in the years preceding her application for disability. Ironically it was her efforts to try and make money and avoid becoming a burden on the state that sank her claim.

A Solution?

There are many ways to avoid this problem of being simultaneously unable to work and unable to collect disability, but they all require planning. Hence the need for awareness. Here's some helpful planning advice that I found in "Multiple Sclerosis: Your Legal Rights" By Lanny E. Perkins, Sara Perkins:

If it appears that you do not have enough work credits to qualify for SSDI benefits. perhaps because you took time out for childrearing, for education, or to deal u~th your illness. you may want to consider ways to continue working, at least long enough to meet the disability requirements. This might involve continuing your present job or finding an alternate, for example. part-time work that will allow you to go on earning the relatively small amounts required to accrue coverage credits. In some situations, it may be possible to engage in self-employment, possibly in a home-based business or in conjunction with your spouse, so that you can acquire the needed credits as soon as possible. You must be sure to pay your self-employment taxes to receive the credits!

So, there you have it. Whatever your age, whatever you current financial situation, you should be aware of these things. And one more thing. Do not assume Supplemental Security Income (SSI) will help you out. This is a government program that helps people who have a disability and very few resources. If your spouse has a good job there is very little chance you qualify for SSI.

(Disclaimer: I am not a lawyer or an expert on federal benefits. I believe the above statements about eligibility to be correct, but feel free to correct me in a comment to this post if you think I have something wrong.)

RUS Broadband Loan Program Victim of Federal Budget Cuts; Politicians appear to be okay with that

Republicans and Democrats make it official: rural Americans are on their own. As they left the capitol, lawmakers from both parties sent an email blast as follows:

Dear Farmers of America,
Sorry, but no broadband for you or your children and schools.
Please keep growing our daily bread.
Thanks...Urban America

Here's the rest of the story:

"As part of a budget compromise reached to prevent a government shutdown, funding for the Rural Utilities Service’s (RUS) rural broadband loan program has been targeted for cancellation. In March, RUS announced it had begun taking steps to make loans available to support broadband deployment in rural areas across the country through its loan program. RUS was expecting approximately $700 million in program level loan authority which would be secured by $68 million in appropriations authorized under the 2008 Farm Bill. The loan authority has now been marked for cancelation by the House Appropriations Committee as part of the recent budget compromise." RUS Broadband Loan Program Victim of Federal Budget Cuts

Capping the Net: AT&T T-Mobile deal spells bandwidth caps, captive users, and rising costs

IMHO: If the AT&T purchase of T-Mobile goes through we will see a new era of rising prices for bandwidth, the expansion of bandwidth caps and captive users. I have been saying for some time that the future of the 'net is looking bleak, at least from the point of view of the average user.

The days of cheap and seemingly limitless bandwidth are coming to an end. Maybe not tomorrow, or even this year, but the writing is on the wall and it says you will have to pay a lot more for bandwidth, and you will pay by the gigabyte. No more all you can eat for X dollars per month. Try 5 gigabytes for $50 and $50 a gigabyte for overage. No rollovers, no exceptions, unless you opt for the platinum plan, a mortgage payment priced top tier of connectivity affordable only to the few.

The golden age of surfing without thinking about the bandwidth you are burning, the salad days of unlimited movie watching over the web, through your Xbox and onto your HD flat screen? It's about to end. Get ready to sit around the hearth and reminisce about the good old days of unlimited data plans and all the online gaming you could eat.

Melodramatic? Only time will tell. Set a reminder to check back here in 12 months (I use the calendar on my iPhone). But before you bet against these dire prognostications, checkout Stop the Cap, a great website that I've been watching for some years now. The have a wealth of material on many aspects of broadband pricing, service levels, and telecom lobbying:

Many companies in the broadband industry are engaged in a high-priced lobbying campaign to manufacture a “bandwidth crisis/exaflood” or “shortage,” suggesting that consumers are abusing their broadband connections at such a rate it threatens the integrity of the Internet and its distribution platform...[but]...most of the companies complaining refuse to open their records to independent verification “for competitive reasons.”

If you do visit Stop the Cap you will see where I got the inspiration for the graphics in this post. Anyone who wants to raise awareness of cap-creep and other net-farious telco activities is free to re-use or link to my images. However, use of these images by any telco without written permission is prohibited. (Okay, so it's highly unlikely anyone from AT&T or T-Mobile or Comcast or Time Warner or Verizon is going to read this, but I'm just saying, you've been warned, right.)

Doctors, Genes, Family Trees, Quora and Hemochromatosis

Have you visited Quora yet? It's a increasingly popular website that bills itself as "a continually improving collection of questions and answers created, edited, and organized by everyone who uses it." On a recent visit to Quora I saw this question:

Q. What are reasons that I should not submit my DNA to a firm like 23andMe?

You can read the question and answers here. This question caught my eye because, as regular readers will know, I did submit my DNA to 23andMe. Personally, I could not think of any reason not to do so. Apparently, not everyone shares my attitude, which is fine, but one person provided an answer that was, IMHO, wide of the mark. Here is what I submitted to Quora in response to Person X:

Me: I see no reason not to submit your DNA to 23andMe. And I have to warn you that the following assertions are, in my experience, somewhere between naïve and dangerously wrong:

"First of all, your doctor is going to notice in your family history if said disease is wreaking havoc on your family tree." - -Person X


Me: My wife's family was decimated by hereditary hemochromatosis over a period of 40 years and scores of doctors failed to notice it. My wife presented classic hemochromatosis symptoms to at least a dozen doctors herself, over a period of 15 years, before one of them connected the dots.

Her case is not just an isolated example. A landmark CDC study showed that hemochromatosis sufferers had symptoms for an average of 9.5 years and saw more than 3 doctors before being correctly diagnosed.

"Secondly, many diseases with a clear genetic linkage present themselves early in life, often when patients are still quite young." -- Person X


Me: This is not entirely untrue, but it is terribly vague. For example, women often do not get the symptoms of hereditary hemochromatosis until menopause, at which point they can have suffered serious organ damage. Indeed, it is unusual for hereditary hemochromatosis to cause symptoms before adulthood.

"You're probably not going to find a big nasty surprise buried in your genes. And even if you do find said nasty surprise, most doctors are not going to start treating you until your body actually starts showing symptoms." -- Person X


Me: There are two serious problems with this statement. First, knowing that you are a genetic carrier can help your doctor catch the symptoms sooner. For example, if you are homozygous for hemochromatosis then a simple blood iron test administered as part of a regular physical can detect elevated iron levels before they do long term damage. Since iron tests were dropped from standard blood panels in the US in 1996 [due to several cases of billing fraud by unenthical labs], many insurance companies won't cover these tests without cause, and a positive gene test is a better cause than waiting for someone to be sick.

Secondly, there are numerous nasty surprises you can find in your genetic data. I count myself lucky that I am not a carrier of Alpha-1 Antitrypsin Deficiency, Bloom's Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Factor XI Deficiency, Fanconi Anemia (FANCC-related), Familial Hypercholesterolemia Type B, Familial Mediterranean Fever, Gaucher Disease, Glycogen Storage Disease Type 1a, Hemochromatosis, Limb-girdle Muscular Dystrophy, Maple Syrup Urine Disease Type 1B, Mucolipidosis IV, Niemann-Pick Disease Type A, Connexin 26-Related Sensorineural Hearing Loss, Phenylketonuria, Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1), Sickle Cell Anemia, Tay-Sachs Disease, or Torsion Dystonia.

I am also thankful that, because of 23andMe and my own interest in my health, I know that I am not a carrier. Ignorance is seldom bliss. I don't plan on fathering any children, but if I was a younger man I would want to know about my genetic carrier status before I did. A gene test that reveals you are a carrier of something like hemochromatosis or Gaucher could make a big difference to your decisions about partners and parenthood.

END.

Quora is an interesting website and potentially a very useful resource. I will keep visiting and answering questions when I feel I have something to offer. However, if you go to Quora you need to be careful when evaluating answers. Person X describes herself as a third year medical student, which suggests that medical schools are still teaching the AMA line on direct-to-consumer genetic tests, namely that a. they are pointless, b. consumers can't handle them. That is why the AMA is lobbying the FDA to ban them. I disagree. That's why I am asking people to sign this petition to the FDA.

Connecting the next billion - WiMAX to provide internet access for the unconnected

Some interesting points of relevance for rural America here: Connecting the next billion - WiMAX to provide internet access for the unconnected

Fighting Continues on Multiple Fronts: FDA, DTC, Telcos, Hemochromatosis

Sorry things have been a little slow lately here on Cobbsblog. I have been working pretty hard at the day job and on my "word warrior weekends."

Let me quickly explain: I have been blogging and tweeting and Facebooking on multiple fronts for the past few weeks:

1. Petitioning the FDA to ignore the lobbying of doctors who want to end Direct-To-Consumer genetic testing (i.e. the kind of testing that enables you to find out if you have hereditary hemochromatosis even if your doctor doesn't think you do). And I mean petition. Please read and  sign the petition when you have a chance. That would be much appreciated. Bear in mind that this possible FDA action affects everyone in America, not just hemochromatosis patients.

2. Raising the alarm about the efforts of large telecommunications companies (telcos) such as Time Warner Cable to ban community broadband networks. Yes, your urban cable company may be taking some of your monthly payment and using it to pay lobbyists fighting to squash local efforts to install broadband in places where the big telcos have failed to do so. Read more here.

3. Continuing to battle ignorance about hemochromatosis, as evidenced by this report on the Facebook page: "Husband recently diagnosed. Saw a gastro doctor today about a possible liver biopsy. He knew almost nothing about hemochromatosis." And yet he, the doctor, probably makes over $200,000 a year.

I should also explain that's not me with the raised arm in the painting (a free Fighting Hemochromatosis mug to the first person--friends and family excepted--who comments with the name of the original painting and artist).

More updates from the front lines as time permits...

Yes, Time Warner IS Trying to Ban Community Networks

When I blogged about the truly inspiring Institute for Local Self-Reliance a few days ago and its Community Broadband Map, I suggested that big telcos were trying to put a stop to people creating their own networks in the places that the big telcos refuse to serve.

Some people found that hard to believe (some of them young people who still seem to think American corporations are all about free markets and level playing fields). So here is a dose of reality people, as reported by the terrific website that is the source of the sadly "too-true" cartoon you see here. The site is Stop the Cap:

Time Warner Cable’s custom-written bill banning community-owned broadband networks in North Carolina this afternoon received a favorable vote in the Public Utilities Committee... Read the full report here.

Yes, you read that correctly. Time Warner Cable is trying to get a law passed to outlaw community-owned networks. This is the same company that told me, in writing, to take a hike when I ordered commercial-grade cable service from them. (Okay, they did not use those exact words, they just told me it would cost more than $100,000 to connect me, even though I am less than 5 miles from their nearest connection point and there are dozens of other willing customers between that point and me.)

So all of you out there enjoying Time Warner Cable Internet and Verizon FiOS just remember, your broadband provider is actively seeking to stop rural communities from helping themselves while simultaneously denying those communities the kind of broadband you enjoy.

And think of my neighbors, paying 5X what you pay for broadband and getting 1/20 of the service you get. Now think about this: If those companies can get away with treating those communities so badly, how long will it take them to start behaving equally badly toward you?

API Pop-Up Box Bug in Twitter Seems to be Fixed

I hope I am not speaking too soon, but the Twitter bug that has been bugging me for the better part of a year seems to be fixed. Twitter is no longer asking me to log into the Twitter API (for the record I have never had anything to do with the Twitter API, apart from trying to get rid of that login box).

Since I had complained so much, I felt it was only fair to let people know of this incremental improvement in Twitter. Not that all is well at Twitter, according to this Fortune magazine cover story. But one good sign might be this quote from Jack Dorsey, cofounder and former CEO of Twitter, is now back on baord as Executive Chairman of product (development, improvement, completion, or whatever):

"We're just humans running these companies."

Some might say that quote should be on the wall of every C-level office in techno-startup-land.

The Institute for Local Self-Reliance: An idea whose time has come?

Anyone who has spent time trying to get companies to bring broadband to their rural community will know that it can be a lot like banging your head against a wall. The telcos are not interested. Legislators are either powerless or in the pocket of the telcos.

And we are now hearing rumors that a lot of the rural broadband stimulus money went to "mapping studies" and "feasability projects" carried out by organizations fronting for telcos. Expect a series of reports in the next few years that declare "broadband access solved for most rural Americans" even as the decline of rural narrowband ghettos proceeds apace.

Yes, it's grim out there if you have no broadband in your community and for many people the answer is clearly not going to be the telcos or the stimulus program or even the recently announced wireless initiative. The answer may well lie in our own hands: local initiatives.

One organization that is helping folks head down that road is the Institute for Local Self-Reliance. They have a project called Community Broadband Networks. This project offers a lot of hope, some of it in the form of an impressive map of local broadband operations around the country.

This is the first map to comprehensively show the broadband networks that are structurally designed to meet community needs first. Most of the networks are owned by local governments, but nonprofit networks will also be incorporated over time.

Take a look. It is encouraging. I looked at one pin on the map as an example, a small town in Pennsylvania called Kurtztown that installed Fiber to the Home (FTTH) in 2002. This is a good example because it shows what happens when you go down this road: The telcos try to stop you!

That tells you these projects must be doing something right...and fiber to the home, in a small town? What better lifestyle could there be?