Ed Friedlander, M.D., Pathologist

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Welcome to Ed's Pathology Notes, placed here originally for the convenience of medical students at my school. You need to check the accuracy of any information, from any source, against other credible sources. I cannot diagnose or treat over the web, I cannot comment on the health care you have already received, and these notes cannot substitute for your own doctor's care. I am good at helping people find resources and answers. If you need me, send me an E-mail at Your confidentiality is completely respected. No texting or chat messages, please. Ordinary e-mails are welcome.

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I'm still doing my best to answer everybody. Sometimes I get backlogged, sometimes my E-mail crashes, and sometimes my literature search software crashes. If you've not heard from me in a week, post me again. I send my most challenging questions to the medical student pathology interest group, minus the name, but with your E-mail where you can receive a reply.

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Pathology's modern founder, Rudolf Virchow M.D., left a legacy of realism and social conscience for the discipline. I am a mainstream Christian, a man of science, and a proponent of common sense and common kindness. I am an outspoken enemy of all the make-believe and bunk that interfere with peoples' health, reasonable freedom, and happiness. I talk and write straight, and without apology.

Throughout these notes, I am speaking only for myself, and not for any employer, organization, or associate.

Special thanks to my friend and colleague, Charles Wheeler M.D., pathologist and former Kansas City mayor. Thanks also to the real Patch Adams M.D., who wrote me encouragement when we were both beginning our unusual medical careers.

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Especially if you're looking for information on a disease with a name that you know, here are a couple of great places for you to go right now and use Medline, which will allow you to find every relevant current scientific publication. You owe it to yourself to learn to use this invaluable internet resource. Not only will you find some information immediately, but you'll have references to journal articles that you can obtain by interlibrary loan, plus the names of the world's foremost experts and their institutions.

Alternative (complementary) medicine has made real progress since my generally-unfavorable 1983 review. If you are interested in complementary medicine, then I would urge you to visit my new Alternative Medicine page. If you are looking for something on complementary medicine, please go first to the American Association of Naturopathic Physicians. And for your enjoyment... here are some of my old pathology exams for medical school undergraduates.

I cannot examine every claim that my correspondents share with me. Sometimes the independent thinkers prove to be correct, and paradigms shift as a result. You also know that extraordinary claims require extraordinary evidence. When a discovery proves to square with the observable world, scientists make reputations by confirming it, and corporations are soon making profits from it. When a decades-old claim by a "persecuted genius" finds no acceptance from mainstream science, it probably failed some basic experimental tests designed to eliminate self-deception. If you ask me about something like this, I will simply invite you to do some tests yourself, perhaps as a high-school science project. Who knows? Perhaps it'll be you who makes the next great discovery!

Our world is full of people who have found peace, fulfillment, and friendship by suspending their own reasoning and simply accepting a single authority that seems wise and good. I've learned that they leave the movements when, and only when, they discover they have been maliciously deceived. In the meantime, nothing that I can say or do will convince such people that I am a decent human being. I no longer answer my crank mail.

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During the eighteen years my site has been online, it's proved to be one of the most popular of all internet sites for undergraduate physician and allied-health education. It is so well-known that I'm not worried about borrowers. I never refuse requests from colleagues for permission to adapt or duplicate it for their own courses... and many do. So, fellow-teachers, help yourselves. Don't sell it for a profit, don't use it for a bad purpose, and at some time in your course, mention me as author and William Carey as my institution. Drop me a note about your successes. And special thanks to everyone who's helped and encouraged me, and especially the people at William Carey for making it still possible, and my teaching assistants over the years.

Whatever you're looking for on the web, I hope you find it, here or elsewhere. Health and friendship!


More of Ed's Notes: Ed's Medical Terminology Page

Perspectives on Disease
Cell Injury and Death
Accumulations and Deposits
What is Cancer?
Cancer: Causes and Effects
Immune Injury
Other Immune
HIV infections
The Anti-Immunization Activists
Infancy and Childhood
Environmental Lung Disease
Violence, Accidents, Poisoning
Red Cells
White Cells
Oral Cavity
GI Tract
Pancreas (including Diabetes)
Adrenal and Thymus
Nervous System
Lab Profiling
Blood Component Therapy
Serum Proteins
Renal Function Tests
Adrenal Testing
Arthritis Labs
Glucose Testing
Liver Testing
Spinal Fluid
Lab Problem
Alternative Medicine (current)
Preventing "F"'s: For Teachers!
Medical Dictionary

Courtesy of CancerWEB

If you were hatched from a swan's egg, it doesn't matter that you may have begun life in a chicken coop.

When you see a person who has been given more than you in money or beauty, then look to those who have been given less.

We [the human race] do not have much time to prove that we are not the product of a lethal mutation.

Debra Collins
Jayhawk genetics counsellor

Learning Objectives

Inherited genetic disease is of tremendous importance in clinical medicine. Except as marked or noted in lecture, this is mastery-level material at the recall level.

You should be able to:

KCUMB Students
"Big Robbins" -- Genetic
Lectures follow Textbook



{13429} Barr body (11 o'clock)


Chromosomes/ translocations
"Pathology Outlines"
Nat Pernick MD

{39121} Down's face
{53766} Down's child
{53767} Down's child
{13442} Brushfield's spots
{13443} palmar crease
{20093} Down's, hole in heart (ventricle and atrium have been opened to reveal AV-cushion defect)
{31573} Down's syndrome, narrow superior temporal gyrus (subtle, subtle)
{13448} Down's karyotype

{13450} trisomy 18; rocker bottom foot
{13451} trisomy 18, hand with overlapping fingers
{13467} trisomy 18, newborn
{13457} trisomy 18; child made it to age 2; trust me
{20101} trisomy 18; hole in heart
{53772} trisomy 18; omphalocele (abdominal wall didn't form properly around umbilicus)
{13465} trisomy 18 karyotype

Trisomy 18
WebPath Photo

{11000} Trisomy 13
{13420} Trisomy 13
{16617} Trisomy 13, polydactyly
{16619} Trisomy 13, microcephaly
{20099} Trisomy 13, hole in heart
{13423} Trisomy 13 karyotype

Bryan Lee

WebPath Photo

Partial Trisomy 13
Rebecca's mother is a cyberfriend.

{16604} Trisomy 9
{16605} Trisomy 9. Both for your interest. What do you see?

{13404} Cornelia de Lange syndrome
{13406} Cornelia de Lange syndrome
{13405} Cornelia de Lange syndrome

{13433} Turner's, webbed neck
{13435} Turner's; short fourth
{20105} Turner's, small uterus flanked by two streak ovaries
{20106} Turner's; streak ovary histology (right, no eggs), normal for comparison (left, eggs)



Achondroplastic dwarf

KU Collection

{13463} Marfan's, fingers
{13464} Marfan's, spine with scoliosis
{39124} Marfan guy
{40362} Marfan fingers


KU Collection


{18253} albino
{53675} albino

{01321} Tay Sach's ballooned neurons

{20113} Niemann-Pick's in the liver
{31973} Niemann-Pick's foam cells
{17427} Niemann-Pick's, lysosomal storage in marrow (Giemsa stain and electron micrograph)

{00239} Gaucher cells, H&E
{12224} Gaucher cell, bone marrow
{13631} Gaucher's, bone marrow biopsy, H&E (the lone cell with the large hyperchromatic nucleus is a megakaryocyte)
{16216} Gaucher's cell, watered-silk appearance
{31979} Gaucher cell
{31980} Gaucher cell
{18244} Gaucher's child, large spleen and liver make abdomen protrude

Gaucher's disease
Pittsburgh Pathology Cases

{13413} Hurler's baby; abdomen protrudes because of large liver and spleen

{07039} Von Gierke's disease, severe, with glycogen in the heart
{11539} Von Gierke's disease involving kidney, histologic view; clear glycogen in proximal tubular epithelium
{20132} Von Gierke's disease, intracytoplasmic glycogen appears clear
{18238} Von Gierke's patient with hepatomegaly producing protuberant abdomen


{07967} Fabry's, lamellar bodies on electron microscopy

Pittsburgh Pathology Cases

Electron micrographs
VCU Pathology

{53764} fragile-X guy (long maxilla)
{53765} fragile-X guy

MITOCHONDRIAL INHERITANCE (Lancet 379: 1825, 2012)

POLYGENIC DISORDERS (much better term than "Big Robbins's" "multifactorial inheritance")

Cleft lip
WebPath Photo

Cleft palate
WebPath Photo



In response to recent press coverage of advances in genetics, you [the journal Nature] are quick to point out the imagined political and social dangers of a belief in biological determinism, citing Nazi Germany as a precedent (Nature 387: 743, 1997). Perhaps you could explain to your readers why similar comments, quoting the vastly greater number of people who perished at the hands of regimes committed to the dogma of cultural determinism in the Soviet Union, China, Cambodia and elsewhere are never made.... The power to kill millions during our century has come much more from the belief that human beings are the hapless victims of "ideology", "society" or "class" than it has from any knowledge of genetics, however faulty or misapplied it may have been.

Every physician is probably interested in at least one genetic disease. We must offer sound guidance both to individuals and to society, and the philosophical and emotional issues raised by genetic disease fall within the proper range of an introductory pathology course.

First of all, in counseling individuals, especially about decisions that involve terminating a pregnancy or foregoing parenthood, you must obey the law and be considerate of the feelings and priorities of others, which may be different from your own. (Sensitive review: Lancet 338: 998, 1991.)

It's obvious to you that carrying a genetic problem is not the person's "fault". But remember that even today, many people are unaware of this. Address these concerns.

And please don't call children with genetic syndromes (known or unknown) "FLK's" ("funny looking kids") or "GORK's" ("God only really knows" what's the matter). Try to say "dysmorphic", instead.

During the 20th century, the two horrible totalitarian systems differed fundamentally on their concepts of nature-vs.-nurture. The Nazis believed (or pretended to believe) that you were good or bad depending on your race, i.e., for the Nazis, genetics was everything. The Communists believed (or pretended to believe) that they would change human nature itself, and make everybody good, by passing laws that forced people to share. For the Communists, environment was everything. Both are obviously wrong, both in the theory and in its application. It is equally wrong today to deny either the impact of genes, or the impact of environment, on health and behavior.

Genetic testing without genetic counseling is malpractice. But no matter how well you counsel people, bear in mind that a large minority of them will grossly misunderstand what you have told them (review: JAMA 263: 2777, 1990). Is this a reason to forego attempts at educating the public? The author suggests "yes"; I am not sure I agree.

Most people, including most people who lead public opinion do not understand today's biology. Your neighbors are frightened by today's talk of gene splicing, gene therapy (update Proc. Nat. Acad. Sci. 94: 12744, 1997, also NEJM 333: 871, 1995; gene therapy of cystic fibrosis in humans begins Nature 362: 450, 452, & 453, 1993; and a mouse is now cured of cystic fibrosis Nature 362: 250, 1993; gene therapy without red tape in Mainland China: Nature 367: 1, gene therapy review: focus on ovarian carcinoma Am. J. Clin. Path. 109: 444, 1998. 1994), etc. The public understands when cancer chemotherapy kills people by the thousands each year. Gene therapy was set back by the death of ornithine transcarbamylase deficiency victim Jesse Gelsinger (late 1999) in a gene therapy experiment conducted by a physician with a strong financial interest in the outcome, and who had some ethical lapses. More fears are fueled by B-movies (did you ever see a movie or a TV series in which the hero was a true-to-life, non-weird scientist or engineer?), by activists (both "liberal-green" and "conservative"), by press coverage (still generally negative), and by some obvious (even when "politically correct") charlatans (Nature 303: 563, 1983; Discover Jan 1985, p. 34; Science 233: 704, 1986; Discover June 1986, p. 50 ff; Forbes 141: 138, June 27, 1988; Nature 354: 779, 1991; Sci. Am. 272(2): 29, Aug. 1997. The world's leading anti-biotechnology activist (Jeremy Rifkin, a left-wing lawyer who has made a career manipulating the legal system in order to delay or block bioengineered products such as medicines, vaccines, and high-yield food crops) appeared in 1989 on Public Radio, objecting to digital watches. He complained that they do not have hands that simulate the daily rotation of the earth, and will therefore cause us to care less about the problems of the environment. One current nutty-Left idea is that all "scientific knowledge" is merely a construct designed to further the political agendas of the scientists, see Science 255: 613, 1992, Paul Gross's 1993 book "The Higher Superstition: The Academic Left and its Quarrels with Science", etc., etc.; traditionally, left-wing screwballs since Karl Marx have abused terms from academic philosophy and today they're calling all their anti-rational, anti-scientific stuff "postmodernism" (Science 261: 143, 1993, As gene therapy proves successful in making sick children healthy, I would like to rub all these peoples' faces in it. I am not making any of this up. However, the issues are serious.

Recombinant DNA techniques make possible the production of contaminant-free forms of growth hormone, anti-hemophilic factor, interferons, and tissue plasminogen activator, as well as the best insulin and dozens of other medicines. We can even improve food safety and availability (JAMA 269: 910, 1993). But the public still talks about "human beings tinkering with life" and "doctors creating new epidemic diseases in the lab". The real bunko artists also talk about "species integrity" (Science News Nov. 3, 1984, p. 278) and "pure food" (JAMA 269: 910, 1993, Nature 361: 6, 1993, others), and some contemporary "green" folklore still attributes the origin of AIDS to sloppy recombinant DNA work. Your patients are reading this junk.

Recombinant DNA techniques offer vast improvements in early detection of cancer, prosecuting murder and rape cases, proving paternity, identifying remains (J. For. Sci. 38: 686, 1993: you can get good DNA from brain for years after death; J. For. Sci. 38: 542, 1993: identification of bones from the Vietnam war; Forens. Sci. Int. 56: 65, 1992: how we identified the bones of Herr Doktor Josef Mengele), and exonerating men falsely convicted and imprisoned for rape (Science 256: 301, 1992, not to mention KC Star March 13, 1993. There are many such men. Guys: do you know how difficult and expensive it is to defend against a bogus accusation of a sex crime?) But for many people, this simply amounts to "new methods for invading our privacy" (Science 249: 1368, 1990).

Techniques for detecting carrier states have rendered several dread diseases completely preventable. Yet this kind of work is widely perceived as "finding ways to discriminate against the handicapped". (Not one of the horrid predictions of "advocates for the differently abled" have come true in the case of α-1 protease inhibitor deficiency, which has been known for decades: JAMA 271: 217, 1994). But there's still some reason to worry; "eugenics" has a mixed, often unsavory history, mostly because pseudoscientists have written about it, and the "need for eugenics" (which, believe me, the public understands) has been used to sell totalitarian and even racist politics. Interestingly, there is now talk about physicians having a duty to tell the relatives of somebody with genetic disease that they might have it, too (Ac. Med. 73 962, 1998 -- the author says in no uncertain terms that this is too important to leave to the "ethicists and lawyers"). Curiously, it is legal under the Americans with Disabilities Act to fire somebody for carrying, but not being sick with, a hereditary disease (Sci. Am. 270(6): 88, 1994). The same foolishness in reverse: A major medical journal (Lancet 343: 583, 1994) complains that "Tibetans are victims of racial dilution", meaning that those awful Red Chinese allow a young person in Tibet to marry whoever he or she loves. Historians see Am. J. Hum. Genet. 49: 1109, 1991. In contemporary Mainland China, screening is practiced as in the U.S., but parents are forbidden by law from bringing a fetus known to carry a dread birth defect to term. The free world's outcry against this policy: Nature 367: 1, 1994. This sounds to me like selective indignation on a planet on which 50,000 healthy people, mostly children, die daily of malnutrition. You may disagree. Whatever you may think about this, it is likely that several countries will follow Mainland China's politically-incorrect lead by trying to control genetic disease by regulating fertility, creating a host of new problems. And at least a few scientists are now asking, "Can we afford not to engage in eugenics?": Nature 353: 598, 1991. This provokes howls of protest. "Slippery slope" thinkers: Am. J. Hum. Genet. 51: 222, 1992. The famous "slippery slope" argument (fallacy?) reviewed: J. Med. Eth. 19: 169, 1993 (finally somebody has the guts to say that it's demagoguery simply to shout "That could lead to Nazi-style genocide!" every time somebody talks about limited-resources or death-with-dignity or whatever). A disgusted academic geneticist finally puts the problem in perspective, and asks why contemporary "gene ethicists" constantly carry on over "justice and the human genome project" or "let's talk about Hitler's atrocities again" and never mention the population problem or its true cause, the real and genuine oppression of the poor (Am. J. Hum. Genet. 56: 538, 1995).

It is hard not to be moved by the plights of teenagers with sickle-cell disease, hemophilia, or cystic fibrosis. Of more concern to politicians, the expense is tremendous. A hemophiliac consumes an average of about $60,000 in health care each year. An institutionalized retarded person consumes $130,000 / year.

Screening programs for Tay-Sachs disease (Ashkenazi people) and beta-thalassemia (Mediterranean people) have substantially reduced new cases of these diseases (Thorax 45: 46, 1990). The situation with sickle cell disease is complex. However, scientific illiteracy in the U.S. is massive. It is now commonplace for "carriers of genetic disease" to lose their health insurance and/or jobs (NEJM 323: 62, 1990; Am. J. Hum. Genet. 50: 457 & 465, 1992); only in 1996 did Bill Clinton sign into a law a prohibition on treating genetic predisposition as a "pre-existing condition" for which coverage is denied. Ethics of genetic research (sane article: Nat. Genet. 15: 16, 1997). Linus Pauling, who worked out the biology of sickle cell disease, wrote very harshly about people who knowingly bring a sickle cell child into the world (UCLA Law Review 15: 268, 1968), and it is probably only a matter of time before a child with sickle cell disease sues his parents for negligence (J. Leg. Med. 5: 63, 1984). Left-wing apologists for the Brooklyn Museum of Art's 1999 exhibition of "art" created from genuine animal feces and depicting the Virgin Mary surrounded by weird genitalia defended it on the grounds that it warned of the dangers of genetic engineering. In the late 1990's, pressure groups climbing to speak for the world's "indigenous peoples" called for a halt to the Human Genome Project. Among other reasons, it was giving results that contradicted some of their mythologies (I use the word without apology), and they were concerned that people with a remote ancestor might be entitled to share their affirmative-action benefits (Am. J. Hum. Genet. 63: 673, 1998; Am. J. Hum. Genet. 64: 1719, 1999). The word that these people have coined is "biopiracy". The search for truth went on anyway.

If you're interested in philosophy in ethics, you'll notice that the current orthodoxy in discussing "ethical problems" in eugenics considers autonomy to be the supreme good, and that "human rights" includes the right to bring as many profoundly crippled and profoundly unhappy children into the world as you want. This is probably in reaction against the sometimes-unsavory history of "eugenics" many decades ago ("Remain non-directive; simply tell them the risks" was framed in the Nuremberg / Little Rock era.) Or, heaven forbid... the ethicists might actually be afraid of the mudslingers. As a doctor, I can (and probably should) tell a person, "You have no business leaving that melanoma on your face", or "So you're a Jehovah's Witness? I'll take you to court to get a blood transfusion into your child who is dying of hemolytic disease of the newborn." However, I must never, ever say (unless explicitly asked, and then I must be oh-so-careful), "In my opinion, you two have no business having another kid with Lesch-Nyhan syndrome." Again, to be frank, this perplexes me, and I suspect it perplexes other folks, too. For the current ideology, see, for example, Am. J. Hum. Genet. 54: 148 & 159, 1994. (Tying the tubes of chronic mental patients who were totally incapable for caring for their babies was horribly wrong because most of them were poor and this is "classism". The desire and ability to have healthy children will make us care less about sick children. "We now know that poverty can be solved through economic and educational programs." That's a verbatim quotation, I didn't make it up. And so forth.) Am. J. Hum. Genet. 60: 40, 1997 studied exactly how "non-directive" (i.e., virtuous) various genetic counsellors are, and (read between the lines) seems to be (ssshh!) thinking the same things I am.

Today, antisense DNA technology ("magic bullets"; Science 260: 1510, 1993; Science 261: 1004, 1993; Nature 372: 333, 1994; delivery Proc. Nat. Acad. Sci. 93: 316, 1996) offers the reasonable prospect of really effective biologic treatment of cancer (a mouse gets a leukemia remission from anti-BCR/ABL: Proc. Nat. Acad. Sci. 91: 4559, 1994), gene therapy offers the hope of effective treatment of such dread diseases as muscular dystrophy, militants demand "more research to find a cure" for lifestyle-related disease, while other people aggressively demand "up-to-date" lab techniques that do not require the use of animals. Yet European "environmental activists", calling for a ban on all biotechnology ("Nazi science") have recently gained great political clout, and their own militant wing fire-bombs the labs of those who speak out in support of biotechnology (Science 255: 524, 1992). Most "environmental activists" are more reasonable, but the Unabomber is typical of an important nut movement who doesn't get much unfavorable press coverage. At present, there is almost no human genetics or gene therapy research performed in Germany, since it is so easy for the Left to make political capital by comparing this kind of work to "Nazi medical atrocities". I am not making this up (Science 264: 653, 1994). In 1995, a "green" leader in the German legislature said "We oppose any research in human genetics", because "it undermines the dignity of human beings". See Nature 378: 437, 1995. In 1997, James Watson told Berlinners to "put Hitler behind us" (Science 276: 892, 1997). By contrast, the U.S. left-wingers who framed the original 1996 Oakland "Ebonics" resolution claimed it was proved that U.S. black speech is "genetically determined" and therefore not a dialect of English but a fundamentally African language; they had been reading some pseudoscience. I am not making this up, either.

When scientists suggest that it may someday be possible to replace the cystic fibrosis gene in a fertilized egg (or a patient's somatic and germ cells) with a version that works, two objections are now routine:

(1) Pseudoscientists complain that "genetic diversity is necessary to ensure the survival of the species." You'll recognize the misapplication of an important principle -- but could you make a Congressional panel understand why it's wrong?

(2) Other people complain that repairing genes would "change who you are, violating your innate personhood and unique individuality". Note that it is not quite right to say that "your genes make you a unique individual" -- if this were true, then identical twins would be the same person, human cells in tissue culture would enjoy full civil rights, and mosaics and chimeras would be two different people.

And complaints about "doctors going against the divine plan", dormant in most circles since the anesthesia controversies of the late 1800's, are now being heard again. Incredibly, in 1983, leaders of most of the large U.S. denominations (again, both "liberal" and "conservative") signed an inflammatory document from Mr. Rifkin condemning all attempts to eliminate defective genes from the human germ line (Nature 303: 563, 1983; we could have this underway in our lifetimes: Science 253: 841, 1991; Science 262: 533, 1993; the first ones so treated will be anti-oncogene deletion syndromes). Afterwards, several of them admitted they did not really agree with the document, but "wanted to promote discussion" (huh?! did you forget about the 9th commandment, Pastor?), and more recent talk from church circles has been much more honest and sensible (Hastings Center Report 14(2): 13-17, Apr., 1984; Thomist 51(3): 501-20, 1987; Christianity Today 30(2): 22-28, Feb. 7, 1988; the Pope on human reproduction, a moralist who's working on his scientific underpinnings: Nature 373: 100, 1995). Thankfully, there now appears to be a consensus among all "reasonable parties to the debate" that introducing genes into non-germline cells is ethically acceptable (J. Med. Philos. 16: 587, 1991; Nature 361: 5, 1993, gee whiz folks). Certain prominent members of the conservative religious-right (various world-faiths, summer, 1995) produced another inflammatory Rifkin document against genetically-engineered creatures (Br. Med. J. 310: 1351, 1995); apparently it's fine to eat a cow but "abhorrent" to produce a knockout mouse for cancer research. The next few decades will debate "germline enhancement", the final decisions will be made by consumer demand, and the world will be healthier.

In particular, behavioral genetics asks questions (and is beginning to provide answers) that are certain to upset people (Science 257: 164, 1992; conference canceled for reasons of "political correctness": Nature 358: 357, 1992). "Which D4 (dopamine receptor) do you have?": Nature 358: 109 & 149, 1992. It is now generally accepted that D4 has a big effect one one's personality, especially novelty seeking (J. Hum. Genet. 46: 26, 2001). A claim about a D2 dopamine receptor as predisposing factor to alcohol and cocaine addiction (Science 263: 176, 1994) flopped (Science 264: 1693, 1994). By now, a host of animal models for personality -- especially aggressiveness -- are known, and present plausible biochemical mechanisms, and the same must exist for humans based on what we know from adoption studies (Psych. Clin. N.A. 20: 301, 1997.)

Some of these concerns are obviously frivolous, just the Right or Left trying to make political capital. Others are not. Even complaints about curing genetic diseases raise questions about possible uses in the remote future (Nature 312: 408, 1988). I would cite history to argue that, when given the real facts, democratic societies almost always make the right decisions. But many people will disagree (though their counter-arguments against science are more likely to be based on some concept of human nature or disturbing anecdote rather than a major historical trend).

Because of fears of creating monsters, most U.S. work with recombinant DNA was banned in 1975 and remained very difficult for several years. In retrospect, this seems silly. (Frankly, ludicrous. In the 1970's, Mr. Rifkin's left-wingers disrupted biotechnology meetings by painting swastikas, etc., etc. Left-wingers: doesn't painting swastikas count as "hate speech"?) For a contemporary account of "environmentalists" who imagine that treating strawberries with a pseudomonad possessing a single inactivated gene would prevent clouds from forming over California, see Nature 350: 284, 1991). One scholarly book, The Gene Splicing Wars (AAAS, 1986), begins with the story of Chicken Little. Mr. Rifkin is "Foxy Loxy". For the history of the Left's successes in delaying bioengineered medicine, see Science 230: 1146, 1985; Science 233: 516, 1986; Science 235: 159, 1987; Science News June 7, 1986, p. 366; Science 239: 341, 1988; Science 243: 734, 1989; New Scientist 122: 29, May 27, 1989; Science 246: 30, 1989; Nature 337: 398, 1989; Forbes 144: 10, Oct. 2, 1989; Nature 346: 787, 1990; Nature 354: 257, 1991; Nature 358: 529, 1992; Science 251: 608, 1992. In Europe, it is now fashionable for left-wingers to destroy fields of bioengineered crops ("Frankenstein food") at night. The example I've heard most often is this: "The superoxide dismutase genes is harmless in fruit flies, but it causes neurologic disease in humans. This shows the danger of transferring genes from one species to another. So there is no predicting what will happen." Obviously, this relies on confusing alleles with loci, and anybody who can't see the fallacy shouldn't be talking to the public about science -- but they are. Could you make a "Green" politician want to understand why it is wrong? The flap over American beef and dairy products, which is probably fueled by economic protectionism, is done under cover of green-party "concern over safety"; in today's hungry world, real humanitarians might instead appreciate that hormone treatment can get cows to give 20% more milk. Part of the irony is that genes recombine all the time in nature -- in Mr. Rifkin's gut as well as at the NIH.

We learn with hope that political barriers to gene therapy have now pretty much disappeared in the wake of its triumphs (Science 258: 744, 1992), at least in the U.S. (which is doing almost all of it). However, the future promises to be thorny.

More troubling (for me, anyway) are the moral, ethical, and religious concerns raised by terminating human lives (before birth, passive euthanasia of defective infants).

Most adults with whom I've discussed the matter express a preference for death over profound mental or physical disability, and the law generally recognizes their right to refuse treatment. A few patients want their lives preserved at all costs. Babies obviously cannot exercise this choice, and many thoughtful people think we should assume that each would choose prolongation of life at great cost, or that motives must be "purely unselfish" in dealing with these questions. Again, I am not sure I agree. I would question the integrity of thinkers "on either side" who cannot see how aborting a fetus with Duchenne's muscular dystrophy is like, and unlike, the atrocities of the second world war era.

The Human Genome Project, the task of sequencing the entire human genome, is now complete, thanks largely to private corporations getting into the act (JAMA 279: 1933, 1998). It has already made the search for disease genes much quicker (Br. Med. J. 314: 126, 1997). Reviews: JAMA 280:1532, 1998, Arch. Neuro. 55: 1287, 1998, Am. J. Pub. Health 86: 1701, 1996. Francis Collins: Academic Medicine 73: 1241, 1998. Ethicists "expressing their concerns": Lancet 352: 1448, 1998.

During the next few years, you will be hearing a lot more about "antisense" nucleic acids, synthesized and introduced into cells to bind complementary mRNA and thereby inactivate the expression of unwanted genes (i.e., oncogenes). The first major triumph has been keeping tomatoes ripe longer (lawyers for the crackpot wing of "environmentalism" kept these off the supermarket shelves for several years before their release in 1994, after which they held "tomato squashes" for the media). Today's genetically engineered crops include soybeans that require much less bug-killer -- and today's "environmentalists" (who you'd think would appreciate the need for less bug-killer) are now going gah-gah over the public's inability to "exercise choice" by rejecting foods with any trace of soy derived from these politically-incorrect soybeans (Br. Med. J. 316: 1845, 1998). The lone article that sparked all the street theater over monarch butterflies (Nature 399: 214, 1999) fed biotech pollen to their caterpillars under lab conditions; decide for yourself. "Nature" itself called it a bad paper (Nat. Biot. 17: 627 & 1154, 1999), Science 290: 2088, 2000 called it a crock, and the one group that tried to repeat the results under field conditions found no sign of toxicity (Proc. Nat. Acad. Sci. 97: 7700, 2000). Of course, people who really care about butterflies might have more to say about the massive destruction of the monarchs' winter habitats in Mexico. Look for much more interesting applications of gene therapy (Lancet 338: 1427, 1991; Br. Med. J. 303: 1282, 1991), perhaps modifying our own genetic expression during our later years. It would be nice if Alzheimer's brain changes were no longer an inevitable part of getting old.

As a leader of the 21st century, you will need to think soberly about genetic disease and the very special problems it raises. Reasonable people will differ (some) about morals and ethics. But not everybody is reasonable, or even honest. If you offer your time, money, or prestige to any group of activists, please be sure you clearly understand the group's real purposes, not just what they say in their rhetoric; in today's world, the reality is likely to be quite different. I think we all hope that, when difficult decisions must be made, that they will be well-informed. Society will increasingly look to you, the physician, for this knowledge. Know your stuff yourself.

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Genes at Risk
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