Orphan Diseases

Have you ever heard of Pompe Disease? It has nothing to do with the town in Italy that was destroyed by the volcanic eruption of Mt Vesuvius in 79 AD. Rather, it is a very debilitating, often fatal, glycogen storage disease that is not familiar to most of the general public. There are a lot of these so-called "orphan diseases", that are generally rare and not in the public eye. Yet, these diseases cause heartache and suffering for thousands of people, just as surely as the more common ailments, such as cancer and stroke.

One of the biggest problems facing those afflicted with an orphan disease is that there is little incentive for pharmaceutical companies to develop drugs to treat these diseases, due to the limited market potential. If your bottom line is money, why develop a drug that will be purchased by only a couple of hundred people? Yet, if you are one of the people affected by Mowat-Wilson Syndrome, Canal-Smith Syndrome or Hermansky Pudlak Syndrome, why should your plight be ignored?

Thank goodness for NORD: " The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service." According to NORD, one in ten individuals in the US is diagnosed with a rare disease: " A rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans."

Hmmmm...taken together, rare diseases are not quite so rare after all.
http://www.rarediseases.org/

Help, It's the Thought Police!!

This appeared in our local paper today. That sound you hear is my head exploding.
My commentary is in red.

Half the lesson is missing if colleges lack conservatives
By Mark Chadsey (April 26, 2006) —
As a faculty member at the State University College at Brockport, I recently had the pleasure of attending the inauguration of our new president, John Halstead. I was particularly interested to hear his vision for the future of SUNY Brockport.

I was not surprised to hear him stress that the campus should commit itself to the goal of making SUNY Brockport look more like America, namely, a place where diversity would be evident in the faculty and student body. While I agree with this mission, I think this can be an admirable goal only if we are committed to intellectual diversity and not just diversity of color and sexual preference.

Before proposing the changes I believe necessary to achieve that goal, I think it is important to review the reasons why real diversity is important. Diversity ought to be about ensuring that the academic world exposes students to a free and open debate between conflicting ideas. The purpose of that clash of ideas is to assist us in becoming better citizens and further our quest to better understand our world. Diversity of ideas assists our search for philosophical, scientific, political, economic and social truths.

The risk in promoting diversity of ideas is that we will open the door to falsehoods. Those who resist intellectual diversity have always cited this risk to justify censuring ideas. The enlightened answer to those harboring such fears has always been that one need not fear falsehood, for out of a free and open debate will come the truth. This cornerstone belief undergirds both the American democratic system and, allegedly, academia.

If we are to create a campus that looks like America, we must begin by asking ourselves if there are major groups in America that are severely under-represented on campus. Conservatives are the most obviously under-represented group on this and most other campuses in America. I wonder why??? Hmmmm, I guess open-mindedness and love of learning lead to the dreaded "Liberalism" A study done by the Brockport College Republicans several years ago indicated that conservatives are vastly under-represented among our faculty. This study confirmed that SUNY Brockport's faculty has a decidedly liberal bias (admittedly, this is not so in my own political science department).Hahahaha!

Surveys by the American National Election Studies since 1972 have consistently shown that more Americans self-identify as conservative than liberal. How can a college campus whose faculty vastly under-represents a plurality of Americans ever hope to look like America? My liberal colleagues offer a variety of explanations for the paucity of conservatives on campus. "They get MBAs and go into the business world" appears most persuasive to them. But why, I ask, do I find conservative plumbers, bankers, lawyers, shoemakers, etc., but not conservative college professors? I do not know, albeit I suspect, that some form of discrimination is at work here. Nope. I've been involved in many faculty recruitments and the question of political affiliation is never asked of candidates.

Conservatives have a rich intellectual tradition stretching back through Edmund Burke, Thomas Hobbes, Aquinas, Augustine, Plato and Socrates. Moreover they were abundant in America academia through the early '60s. Where have they gone? They're too busy plundering America!

In the end, the important issue is not why conservatives are under-represented but the recognition that they are. It appears to me that a vast majority of SUNY Brockport faculty do not embrace conservatism and so are willing to brook its under-representation. If diversity is to actually mean something, it must reflect diversity of intellectual ideas, not just those ideas endorsed by the academic majority. If President Halstead is serious about creating a campus that looks like America and actually reflects the political views of the nation, he must address this ideological imbalance.

Chadsey is an associate professor in the political science and international studies department, State University College at Brockport.

Happy DNA Day!!

April 25th was designated as National DNA Day by the US Congress to commemorate Watson and Crick's description of DNA's double-helix structure, considered by many to be one of the most significant scientific discoveries of the 20th Century.

National DNA Day is sponsored by the National Human Genome Research Institute (NHGRI), in cooperation with the American Society of Human Genetics [ashg.org], the Genetic Alliance [geneticalliance.org] and the National Society of Genetic Counselors [nsgc.org].

Here are some actual questions and answers that were posted today during an online chat session at genome.gov:

Q: : Two related questions came in at about the same time: "Can we eat DNA?" And "What does DNA task like?"
A: Eric Green, M.D., Ph.D.: We eat DNA all the time-- it is in all meat, all fruits, all vegetables, and so forth. Anything living has DNA in it. In terms of DNA tastes like-- must be chicken (doesn't everything taste like chicken?).

Q: Richard Lui, Newton, MA: Does DNA have a color?
A: Phyllis Frosst, Ph.D.: In solution, DNA is clear. When precipitated from a solution, DNA forms a white stringy material and when dry, DNA is a white powder.

Q: Emanuel, From Los Angles: Can you find Dna in any cell?
A: Belen Hurle, Ph.D.: Almost. Red blood cells and eye lens cells don't have DNA!

How do you plan to celebrate DNA Day??

Fun with Chemicals!

Sour Grapes in California

Calif. Stem Cell Agency Still in Limbo
By PAUL ELIAS

SAN FRANCISCO (AP) - California's $3 billion stem cell research institute won an important victory with a court ruling rejecting challenges to its constitutionality, but the agency's finances remain in limbo while the expected appeals block much of its funding.

A state judge ruled Friday that the California Institute for Regenerative Medicine is a legitimate state agency and that two lawsuits challenging it have no merit.

The ruling came a month after a four-day trial in which lawyers with connections to anti-abortion groups claimed the country's most ambitious stem cell research agency violated California law because it wasn't a true state agency and its managers had a host of conflicts of interest.

But Alameda County Superior Court Judge Bonnie Lewman Sabraw wrote in a 42-page ruling that the lawsuits failed to show the voter-approved law that created the agency in 2004, ``is clearly, positively and unmistakably unconstitutional.''

Lewman Sabraw's ruling becomes official in 10 days unless the losing attorneys come up with new and dramatically different arguments.

The litigation, however, has prevented the Institute for Regenerative Medicine from borrowing any of the $3 billion it is authorized from traditional Wall Street bond buyers. That won't change until the expected appeals of the verdict are exhausted, probably sometime next year.

``It's unfortunate that the plaintiffs, after losing at the polls, went to court to frustrate the voters' will,'' California Attorney General Bill Lockyer said. ``The sooner this legal fight is over, the sooner California can move to where the people want it - in the forefront of stem cell research.''

The Nerd Party!

At a nerd party...

Everyone gravitated toward Newton, but he just kept moving around at a constant velocity and showed no reaction.

Einstein thought it was a relatively good time.

Coulomb got a real charge out of the whole thing.

Cauchy, being the only mathematician there, still managed to integrate well with everyone.

Pauli came late, but was mostly excluded from things, so he split.

Pascal was under too much pressure to enjoy himself.

Ohm spent most of the time resisting Ampere's opinions on current events.

Volt thought the social had a lot of potential.

Heisenberg may or may not have been there.

The Curies were there and just glowed the whole time.

van der Waals forced himself to mingle.

de Broglie mostly just stood in the corner and waved.

Stefan and Boltzman got into some hot debates.

Everyone was attracted to Tesla's magnetic personality.

Compton was a little scatter-brained at times.

Bohr ate too much and got atomic ache.

Watt turned out to be a powerful speaker.

Hertz went back to the buffet table several times a minute.

Faraday had quite a capacity for food.

Oppenheimer got bombed.

Global Warming, Anyone?

Thank goodness for the Union of Concerned Scientists.
http://tinyurl.com/ap7bh

They have all of the information necessary to debunk the nay-sayers.

Cool Site of the Day!

Click on the link below for a one minute time-lapse movie of zebrafish development. It's awesome!

http://tinyurl.com/pn972

Happy Holidays!

Marshmallow Peeps: A Scientific Model

I discovered this silly website a couple of years ago. It's still hysterical and especially appropriate for Easter week-end. It seems that some scientists (apparently with some time to kill in the lab) are conducting laboratory experiments on marshmallow peeps. They have an entire website devoted to their studies.

One particularly cute experiment was "the effect of alcohol and smoking on marshmallow peeps."
http://www.peepresearch.org/smoking.html

First, the peep was exposed to alcohol and did exhibit some signs of inebriation, such as bumping into the walls of the swimming vessel:



Then, the peep was permitted to select a brand of cigarette and smoked without apparent ill effects:


However, when smoking and alcohol were combined, the effects were catastrophic:

Their conclusions: "The synergistic effect of smoking and alcohol in Peeps produces a rapidly exothermic oxidation reaction, leading to a chemical and morphological divergence from the wild-type Peep phenotypes."

The marshmallow peep appears to be an excellent experimental model for the synergistic effects of smoking and alcohol!

Happy Passover--from the Jewish Humor Pages

A Jewish man took his Passover lunch to eat outside in the park. He sat down on a bench and began eating. Since Jews do not eat leavened bread during the eight day holiday, he was eating Matzoh, a flat crunchy unleavened bread that has dozens of perforations.

A little while later a blind man came by and sat down next to him. Feeling neighborly, the Jewish man passed a sheet of matzo to the blind man.

The blind man handled the matzo for a few minutes, looked puzzled, and finally exclaimed, "Who wrote this crap?"

And, just in time for this year, a group of leading scientists has published data indicating that seder participants should NOT partake of both chopped liver and charoses. It is indicated that this combination can lead to Charoses of the Liver.

Contest: Name This Nasty Bug

My View of LASIK

As an eye researcher by profession, I am often asked my opinion of LASIK (Laser-Assisted Intrastromal Keratomileusis). This is a procedure in which visual acuity is improved by sculpting the shape of the cornea with the use of an excimer laser. It is true that the success rate for this procedure is very high (greater than 90%), with few complications. However, as a faculty member in an Ophthalmology department, I was offered this surgery at no charge and turned it down. Here are my reasons:

1. I don't like the idea of cutting into a healthy eye. It's one thing to need cataract surgery or vitrectomy to treat a serious eye condition. It's something else entirely if the purpose is simply to improve visual acuity in a way that can be satisfied with the use of contact lenses or glasses. Although the complication rate is low for LASIK surgery, if you are one of the unlucky few who suffers ill effects, the statistics won't be of any comfort.

2. The long-term consequences of this surgery are unknown. The eye changes with age. The lens becomes presbyopic, leading to the phenomenon of "not having arms long enough to read the newspaper". Does LASIK surgery need to be repeated after a certain number of years to account for the changes of an aging eye? No one really knows. Until more is known, I'll take the conservative route....

From The Medical Humor Pages....

A Stanford research group advertised for participants in a study of obsessive-compulsive disorder. They were looking for therapy clients who had been diagnosed with this disorder. The response was gratifying; they got 3,000 responses about three days after the ad came out.

All from the same person.

An A-MAIZE-ing Woman

Barbara McClintock earned her B.S. M.S. and Ph.D. degrees in botany at Cornell University during the 1920's. At the time, women were not permitted to major in genetics at Cornell. Yet, she pursued the genetic study of maize (corn). Her long and successful career took her to the University of Missouri, and the California Institute of Technology, as well as a brief post-doctoral fellowship in pre-war Germany. Her work was recognized with the Nobel Prize in Medicine. You have to love this quote she gave in 1983, at the time she won the Nobel Prize:
"Over the many years, I truly enjoyed not being required to defend my interpretations. I could just work with the greatest of pleasure. I never felt the need nor the desire to defend my views. If I turned out to be wrong, I just forgot that I ever held such a view. It didn't matter."

It appears that she also had an EAR for music:

Plagiarism, part trois

Well, I finally heard from the Indian journal editor in the case of plagiarism:

Dear Eyedoc.
Since i was out of town i could'nt reply to your email. i am investigating the matter and will let you know the developments regarding the case of plagiarism.
Thanking you,
Editor

Not much, but it's a start.

Now, is it just me, or does his message seem not the most grammatically correct for an editor of a journal that is entirely published in English?

Meanwhile, my editor has contacted Medline and they've promised to link the fraudulent article to its retraction, as soon as the Indian journal takes action.

Home!

Well, I've made it home in one piece! The flowers pictured above are from my friends' garden in Seattle.

I LEAVE the Pacific Northwest with many wonderful experiences. The CROSS-POLLINATION of ideas at the conference PLANTED the SEEDS for BUDDING collaborations. The conference was FERTILE ground for new ideas. STEM cells are at the CUTTING edge of science. I ROOT for the day when STEM cell research can continue freely in this country, accepted by even the most conservative BRANCHES of society. Are you listening, BUSH?

Down from the Mountaintop

Greetings from Seattle! I've come down from the mountain and present you with another photo from the top of Mount Whistler.

Here is my latest scientific observation: When you cram 600 international scientists, shoulder-to-shoulder, in an auditorium for a week and let them cough/sneeze all over one another and share buffet utensils, they will catch each others' colds. And to prove the point, I write this post in the midst of a sneezing fit.

The good news is that the conference went very well. Here are a couple of more tidbits:

1. We learned how efficiently tadpoles can regenerate their tails.

2. We learned that in Italy, gene therapy is being used to treat a blistering skin disease (epidermitis bullosa) by replacing the patient's faulty gene. The patient's own skin cells are harvested and expanded in a petri dish with the corrected gene added and used as skin grafts over blistered areas. Since the cells originate from the patient, there is no sign of immune rejection. A clean, healthy layer of skin replaces the tissue that had been completely blistered.
http://www.expertopin.com/doi/abs/10.1517/14712598.6.4.367

That's all from Seattle for now. I'll be home tomorrow!