James Weiss’s Hidden World

Even though we moved from Travis County to Hays County, I maintain a City of Austin Public Library card because one branch is very convenient on the way home from  grocery shopping. Browsing the life sciences stacks around Dewey Decimal 570, I found The Hidden Beauty of the Microscopic World by James Weiss. I renewed it twice. It was easy enough to flip through the pictures. Then, I made the time to read the story. 

The Hidden Beauty of the Microscopic World is a picture book but the author does deliver an informative narration, nicely balanced between technical correctness and common readability without the gee-whiz and golly of so much populist science. Weiss shares his own diary of discoveries.

 

The Hidden Beauty of the Microscopic World
by James Weiss. London: Watkins Press, 2021.

Weiss says little about himself, other than he was living in Poland and on a very limited budget when he took an active interest in the microscopic world. I infer that he was at university and this new hobby was an extension of his classwork because he credits professors in the frontispiece. He gathered up his zlotny and bought himself a binocular microscope and began his new journey. 

Laxodes karyorelictea

 

Weiss collected samples from ponds, streams, and the Vistula river, and from trees, soils, and other places around. In addition, he kept a tank of water into which he put many of his samples after photographing them. From that he also harvested targets for study as the ecosystem developed and evolved. 

 

Lacrymaria olor

As Weiss honed his methods he settled into a presentation style. Except for the subject displayed, the pictures all look very much alike. Paramecium, euglena, or tardigrade, everything is very green and sometimes a little out of focus away from the center. There are  few opposite contrast dark lightings and no stains. 

Paramecium at top is infected with
bacilli. That kind of symbiosis may be the
source of our mitochondria.

Darks are an old technique that reveal other features of the object by passing less light through them. I discovered the same thing at age ten with my own Tasco microscope: use the back of the mirror as the reflector. Somewhere in a box is a snapshot of a salt crystal taken with my mother’s Kodak 828 Pony.

Must show a Tardigrade, of course.

James Weiss served as a writer and researcher for the MicroCosmos channel on YouTube which ran from 2019 through 2024. 

They produced 346 videos and attracted over 900,000 subscribers and even sold their own brand of binocular microscope and a soundtrack before closing up and moving on.

 

PREVIOUSLY ON NECESSARY FACTS

Before Darwin 

A New Microscope 

Stem Cell Collection 

Biobash: Chamber Replicates Success

From Texas to the Moon with John Leonard Riddell 

Epigenetics and Evolution 

Microscopy (again)

  

The Morning Sky

Stepping outside with the cat after her breakfast, I stopped to take in the sky. I felt comfort from the familiar sight and regret for not being involved with it. Astronomy is more affective than microscopy. 

In neither am I truly discovering anything. In both, I only see what others have said is there:  stars in a cluster; cells in a tissue. If not for the books (and websites) I would have little, if any, understanding of what I am looking at, though biology does allow more opportunity for informed inference. The walls of cells are visibly tractable while (with my instruments) the strata of stars are not.

On the left (south) Scorpius with Claws Zuben el Eshmali
and Zuben el Genubi. To the right (west) Corvus.
Xi Scorpii here and Corvus here.

The telescopes remain all packed away. Yesterday, I put the microscopes and slides back into storage. 

 

I expected to view the present conjunction of Saturn and Venus, and I watched the approach as of last week, but I put it off. I went out last night and saw only Venus. Checking the charts, I understood that a telescope would have provided the view I sought. 

 

PREVIOULSY ON NECESSARY FACTS

ELI the ICEman: Science and Technology 

Epigenetics 

Fantastic Voyages: Teaching Science with Science Fiction

The Madam Curie Complex 

Microscopy (again)

Ahead of a medical procedure, I was cautioned that I will not be doing any bending and lifting for a couple of months or more. So, I packed away all of my telescopes and sealed the boxes until spring. Mars will be just past the meridian at 9:00 PM Central Time on March 15. In the meantime, I set up the dining table again for microscopy.

In numismatics we say, "If you don't know your coins, know your dealer." That applies in many areas. Reading in discussion groups online for amateur microscopy, several people raved  about the great deals they found on Goodwill dot com and I did buy two microscopes there. Nice enough as they were for the price, they were not great deals and from that point forward, I gathered bookmarks to websites for microscope retailers and name brands for scientific supplies. 

The Cloudy Nights discussion board for amateur astronomers has a forum for this, "Cloudy Days: Microscopes" here https://www.cloudynights.com/forum/104-cloudy-days-microscopes/  I also visit the Microbe Hunter discussion board here https://www.microbehunter.com/microscopy-forum/. That board is the work of Oliver Kim whose main board is Microbe Hunter: https://www.microbehunter.com He has been doing this for several years, has very many very helpful videos on YouTube, and sells by pass-through clicks on Amazon. Also on YouTube, I found Journey to the Microcosmos, which provides a lot of entertaining videos about very small things seen very large. 

Other hobbyists  online have recommended other resources such as Quekett, a UK group with international membership. Interesting as they all are, I have not joined anything new yet. (I just filed an article about the Huygens probe to Titan with the History of Astronomy Division of the American Astronomical Society. And I still have a day job.) 

PREVIOUSLY ON NECESSARY FACTS

 

A New Microscope

Microscopy 

Biohackers 

Biobash: Chamber Replicates Success 

Disruptive Diagnostics and the Business of Science

ANDROMEDA, STRAINED

I accidentally borrowed the 2008 remake of The Andromeda Strain from our city library. Long ago, after seeing the 1970 movie, I read the book. I do not know whether to attribute the failings to the depths of postmodernism or shallows of popular culture. The remake was flawed on many levels but overall the writers were incapable of updating a story that was already modern 50 years ago. Perhaps the significant advance in our knowledge is the set of organic molecules--including amino acids--found in interstellar space.

Critics Consensus - Infected with an overloaded plot
and clunky techno-babble, The Andromeda Strain is a
remarkably dull mutation of its source material.
https://www.rottentomatoes.com/tv/the_andromeda_strain/s01

Chains of hydrocarbons are known in the Orion "Horsehead" Nebula (Barnard 33).  Many papers have been published about the hydrocarbon molecules detected there including propynyl (C₃H₂), ethynyl (C₂H), and butadinyl (C₄H). 

1970 Movie Poster

Even more interesting is the evidence that these short hydrocarbons are the result of ultraviolet radiation breaking down more complex polyaromatic hydrocarbons (PAHs) such as naphthalene (C₁₀H₈) and anthracene (C₁₄H₁₀), which we now know to be abundant in the universe.

• "Over 130 molecules have been identified in interstellar space so far, including sugars and ethanol. But amino acids are a particularly important find because they link up to form proteins, the molecules that run, and to a large extent make up our cells." -- AMINO ACIDS FOUND IN DEEP SPACE - 18 July 2002 - here: https://www.newscientist.com/article/dn2558-amino-acid-found-in-deep-space/
• Amino Acid Formation on Interstellar Dust Particles -  EGS - AGU - EUG Joint Assembly, Abstracts from the meeting held in Nice, France, 6 - 11 April 2003 - Abstract here: https://ui.adsabs.harvard.edu/abs/2003EAEJA.....5100M/abstract
• AMINO ACIDS DETECTED IN SPACE - Physics World, 11 August 2003 - here: https://physicsworld.com/a/amino-acid-detected-in-space/

PREVIOUSLY ON NECESSARY FACTS

BioBash: Chamber Replicates Success 

Epigenetics 

Monsters from the Id 

Teaching Science with Science Fiction 

Microscopy

 I took up a new hobby. I bought microscopes from ShopGoodwill.com and some prepared slides from Amazon. I was happy to be able to take some pictures with my cellphone using my Celestron NexYZ adapter. The first foray was easier and more rewarding than my attempts at astrophotography. In both fields, my primary interest is in verifying for myself what I read in books. I also benefit from the discovery or revelation of facts not perceived in daily life.

Based on my experience in astronomy, I sought to avoid early mistakes by finding a discussion board that I could rely on and participate in. The astronomy board Cloudy Nights has a forum for microscopy, "Cloudy Days." There, I found a recommendation for Oliver Kim's Microbe Hunter website (here), YouTube videos, and discussion board (forum). 

Kim has an MSc in microbiology and teaches high school biology. I found his narratives interesting, informative, and objective. Some others have complained that he is salesman for his favorite brands. I have not found that so. He does insist that quality and price are on curves and that the average person can find a good-enough microscope for a few hundred dollars or less. I found these two for under $75 each with shipping and handling. (I searched for 1-cent shipping and Buy Now versus bidding.) I still hold to my longterm goal of buying a Zeiss university classroom instrument for about $1000 when the time comes for me to upgrade. That will depend on my learning curve.

I also bought books, of course. I have an instructor's edition for a survey class in microbiology, a couple of lab manuals, and two handbooks on microscopes. 

Onion rind

Picking up where I left off 60 years ago, I found vegetables a lot easier to work with. The sets of prepared slides were not expensive and for that reason were also not carefully prepared. I am not big on bugs, but I could do (and have done) a better job. The specimens are mashed and tangled. So, the next step will be to buy slides, slips, and mounting fluid. (I confess to being a little shakier now than I was at 12 years of age and I think that I can focus past the intentional tremor.) 

Ultimately, I will be exploring histology for anatomy and physiology. As attractive as plants are, they do not tell me much about myself. 

I do appreciate the unity of life. One of the prepared slides is "Lily Ovary." Miss Lily's ovary speaks to the astounding multifarious expressions in complicated matter since the invention of sexual dimorphism. A science fiction story could consider a watery world in which all of the single cells share communication and thereby constitute a self-aware intelligence. The extent to which the cloned daughters would vary could be a plot element if not the story line. How is difference perceived--and is it accepted--when just about everyone is almost exactly alike? 

BAMBOO

Be that as it may, in the mean time, my new toys need cleaning. I have Zeiss fluid and other tools. However, I hesitate to disassemble the oculars and objectives. When I started in astronomy, I had a Celestron 130-mm (4.25-inch) Newtonian reflector. It came with a 20-mm and a 10-mm oculars. A little later, I bought the Celestron Lens-and-Filter Kit that I saw several others with at my first star party. I could not get a filter to screw into the bottom of the 20-mm, so I unscrewed the top--and was rewarded with a handful of small glass lenses. Fortunately, it is a known problem and Celestron has a page on their website on how to put it back together. But it was never the same. I got the faces right, but the axial rotation was off. They are supposed to be circles, of course, but at that level, they are not perfect circles and a little bit makes a difference. So, I have to decide whether and to what extend I want to pay for the lessons being presented here. 

That also impacts another toy, truly a toy, an Educsope. It cost less than $15 from Goodwill and came with a kit of tools and slides. But the stage will not stay up. From an old Tasco microscope set that a neighbor gave me some years ago, I already know this to be a problem with cheap microscopes that kids use. I can take it apart easily. Whether I can clean and tighten the rack and pinion is another question entirely. I actually did that with the Tasco. It works better now. The Eduscope is all plastic and does not hold much promise.

Previously on Necessary Facts

Epigenetics

Bob Swanson and Genentech

Biohackers

Biobash: Chamber Replicates Success

A Moment of Science Fact as Science Fiction

The picture that appeared on Reuters.com was startling familiar.  "My god! Someone built the Time Tunnel!" I thought.  But, it was actually the shrinking machine from Fantastic Voyage that NASA did not build.  What they did announce was preparations for the James Webb space telescope.  And congratulations are appropriate.

Submarine about to be shrunk and injected into a patient.
Isaac Asimov's novel was made into a movie (1966) starring
Sophia Loren, Donald Pleasance, and Edmund O'Brien.

James Webb space telescope being prepared.
Video from NASA on Reuters here.

Previously on Necessary Facts
Fantastic Voyages: teaching science with science fiction
Monsters from the Id: Science is Mankind's Last Hope
From Texas to the Moon with John Leonard Riddell
Great Scientific Experiments

Evolution vs. God

The premise is that Darwinian evolution is unproved and unprovable. It is accepted on faith, passed to students on the authority of professors.   Darwinian evolution has its problems, but this video does not address any of them.  It is a religious tract.

I got the video on the UT campus where they were being handed out.  Packaged as a bait and switch,  Evolution vs. God is a one-sided argument with an assortment of college students and professors. They are neatly boxed in by their own ignorance of Darwinian evolution and their personal failings as moral philosophers.  And, of course, we never see the ones who were not defeated.

Scientists have bombarded fruit flies with radiation for over 100 years, and never created a new species.  However the monsters turn out, they remain fruit flies, apparently still able to breed with others of their kind.  (Institute for Creation Research.)  On the other hand, the Archaeopteryx of the late Jurassic remains factually among several transitional animals between reptiles and birds. Gratefully, we can go swimming without meeting any of the creatures of the Devonian.  What survived is fearsome enough. 

William Smith’s geological map of England was possible only because he relied on the facts of evolution. Simpler forms of the same kind never appear in rock strata higher than more complex forms.  Smith died 20 years before Charles Darwin published The Origin of Species.  

None of that is discussed in this video.  Nor did anyone ask the interviewer what happened to the dinosaurs.  And why do we not find fossil dogs and cats in rocks 150 million years old?

In the nineteenth century, geologists debated catastrophism versus uniformitarianism, and volcanism versus neptunism.  In other words, did the world we know now come about by sudden changes or gradual processes?  Were the primary forces violent explosions or accreting deposits?  Today, we regard those as false dichotomies. 

The debate between Darwinian evolution and Lamarckism may be another false dichotomy.  Epigenetics is the relatively new study of how the environment affects heredity.  The evidence seems compelling – and it seems unlikely that the environment would have no affect, leaving all evolutionary processes at the level of quantum physics.  The easy answer is: “I don’t know.” 

In science we live with our limits.  Science is self-correcting as we work to discover more about the world around us, and put that knowledge into an order that allows predictions.  Religion has no such limits.  They all claim absolute knowledge and – obviously and tragically – disagree about what that absolute truth may be.  Several times near the end, the interviewer (Ray Comfort, the producer) quoted an English translation of the Bible.  Which translation is right?  What happens when they disagree?  And, for that matter, the Qu’ran mentions Jesus about 25 times calling him Messiah and the Son of God.  And the Qu’ran acknowledges Mary as the Virgin and Mother of God.  Yet, somehow Muslims and Christians seem not to get along well. 

Evolution vs. God offers a second thesis: Darwinian evolution allows (even encourages and advocates) immorality.  According to this video, survival of the fittest excuses the harms, crimes, and horrors we perpetrate.  People embrace evolution to avoid following God’s Commandments.  “Are you a good person?” the interviewer asks.  Of course the subjects think well of themselves.  “Have you ever told a lie?”  “Have you ever stolen anything?” "Have you ever had lust in  your heart?" “Have you ever taken God’s name in vain?”  If you stop and think about it, the interviewer is also a sinner, but having accepted Christ’s sacrifice, he does not need to worry about that – or even mention it.  That being as it may, it is not a divine revelation that a selected handful of university undergraduates and professors have no idea what morality is.

All in all, the presentation was no better or worse than Reason TV productions where university students who say they voted for President Obama are happy to sign a petition based on the 1931 Nazi Party election platform. 

ALSO ON NECESSARY FACTS

The Map that Changed the World

The Origin of What?

Epigenetics and Evolution

God is Not Great

Watson’s Double Helix: Doing Science and Writing About It

The Double Helix (1968) is James D. Watson’s very personal account of how he and Francis Crick worked out the structure of DNA through 1951 and 1952.  The reading is an easy 141 pages.  But depth is here, also.  The story is about scientists, their social spheres, and their conflicts, and (ultimately) their collaborations.  This is also a chronological tour through some of the mind of James D. Watson.  Proof demands evidence explained by consistent reasoning. Getting there is intuitive, insightful, and contrary.

Watson does not explain the technical terms.  Mostly, it does not matter if you do not know the formulas for adenine, cytosine, guanine, and thymine.  (I do not. The book has pictures.) However, neither does he do more than drop the terms “keto” and “enol.”  (You can look them up. I have not.)  The narrative moves forward nonetheless. 

More than the frustrating work of discovery, this story reveals much about how the culture of academic science perceived itself in the middle of the 20^th century.  Watson’s telling is personally unkind to Sir Lawrence Bragg.  Bragg ordered his doctoral candidate, Crick, to abandon the pursuit for DNA. Says Watson: “ … we refrained from publicly questioning Bragg’s decision. An open outcry would reveal that our professor was completely in the dark about what the initials DNA stood for. There was no reason to believe that he gave it one hundredth the importance of the structure of metals, for which he took great delight in making soap-bubble models. Nothing then gave Sir Lawrence more pleasure than showing his ingenious motion-picture film of how soap bubbles bump each other.” (page 69)  Yet, Bragg wrote the Foreword. That speaks to the culture of science.

Their conflict with Rosalind Franklin is now a legend.  In closing the history, Watson allows that her barbed shell was a necessary defense in a society that held her sex against her.  Yet, Watson also admits that she stood on good science.  She refused to accept the helix until her own x-ray crystallography validated it, even though a single snapshot from that library inspired Crick and Watson to seek the spiral structure.  When the cards were on the table, Franklin agreed, plainly, flatly, honestly.  Ironically perhaps, at that moment, the structure of DNA had nothing to do with sex.

“Much of the talk about the three-dimensional structure of proteins and nucleic acids was hot air. … It made no sense to learn complicated mathematical methods in order to follow baloney.” (page 27).

Just as Sir Lawrence Bragg denied the value in Francis Crick’s independent path, Watson was fired by the supporters of his post-doctoral work.  His position at Cambridge (where he was not supposed to be in the first place) was cancelled and he was offered nine months (not a year) in the States.  Often attributed to Buddha, the fact that a prophet is not appreciated in his homeland is correctly cited to Jesus.  To the betterment of all, the culture of science is different than that of religion.  The worst they can do to you is to withhold your stipend.  In fact, Watson’s colleagues and friends at King’s College in London, Max Perutz and John Kendrew, assured him that they could find some money if he chose to remain in England.  That help turned out not to be necessary, though Watson continued his work at Cambridge.

He fit in well, there.  The sense of fair play that defined science then was important to him.  Crick and Watson worried about invading the research spaces of others who also sought the structure of DNA.  Topmost of them was Linus Pauling, already holding a Nobel Prize, and clearly capable of more achievements at that level.  When a published paper showed that Pauling was not just wrong, but had blundered, Crick and Watson knew that they had about six weeks to finish their work because Pauling could not be bested twice. 

(Jeff Goldblum played John Watson in a television production of the story, “The Race for the Double Helix” Horizon season 23 episode 16, September 14, 1987.) 

Also on Necessary Facts 

Bob Swanson and Genentech

Biohackers

Epigenetics and Evolution

The Map that Changed the World

Fossils and Behaviors

Sub-adult American alligator 

in Pearl River Delta, Mississippi. 

Photo by Kristine Gingras 

from the journal artlcle.

Crocodiles can climb trees.  "If crocodiles were extinct and you only knew them from fossils, you wouldn't be able to guess they climb trees because they don't have any physical adaptations," University of Tennessee researcher Vladimir Dinets told Reuters. "Assumptions based on fossils," he said, "can be far less correct than people think."
The article "Climbing behaviour in extant crocodilians" by Vladimir Dinets, Adam Britton, and Matthew Shirley appeared in Herpetology Notes (Vol 7:3-7; 2013), an online journal of Societas Europaea Herpetologica. 

"Extant crocodilians are generally considered to be predominantly or semi-aquatic. And, although the role of terrestrial activity in their natural history is increasingly recognized (see, for example, an overview of terrestrial hunting in crocodilians in Dinets, 2011), they are virtually never thought of as animals capable of climbing. Their non-arboreality is often taken for granted in various analyses of tetrapod limb evolution and behaviour of extinct Archosauria (see Birn, Jeffery et al., 2012, for a discussion of the subject and a bibliography)."

Reuters news story here.  

Original journal article here.

The article and the news story both state that this is not a discovery.  Crocodiles have been reported in trees by locals as well as by scientists in the field. The authors gleaned much of their data by convenience, surfing the Web for pictures. The climbers are overwhelmingly juveniles because they have high ratios of strength to body weight: strong claws and limbs; not much to lift. Fearsome as they appear and can be - death by crocodile is a reality for rural women in Africa - like most animals, they avoid conflict, dropping into the water to escape humans in boats who come within ten feet (three meters) or so.  The thesis of the article is that we admit some ignorance before speculating on the behaviors of dinosaurs.

  

Note that the primary investigator, Vladimir Dinets, has a broad range of interests (Wikipedia here; his own blog here).  He completed his doctorate at the University of Miami in 2011 studying crocodile behaviors, including coordinated hunting, and the use of tools. His publication in an online journal (with an essentially non-academic co-worker) also marks a kind of evolution.  The traditional peer review process of print journals has always been a trade-off between the screening out of crackpots and the exclusion of originality. Also, the long lead times were acceptable in the steam age.  Cyberspace is a new environment. We can share more, faster.  Of course, survival of the fittest in science still depends on empirical validation and falsifiable testing of rationally consistent claims. More subtly, we may well be living in a Renaissance time of broad personal achievements.  Scientists take cameo roles on television shows; and Hollywood actors have degrees in science. The co-authors of the article cited here footnote their marketing interests beyond the university. 

ALSO ON NECESSARY FACTS

Epigenetics and Evolution

The Origin of What?

Epigenetics

Biohackers

Epigenetics and Evolution

The mechanism of evolution has not been discovered.  No consistent theory exists. Random mutations adapting to changing environments was the first suggestion.  When subatomic radiation was discovered, that became a proposal.  Now, epigenetics may indicate another, more powerful, model.  

Darwinian evolution does not explain the lack of intermediate forms. Scientists have bombarded fruit flies and mice with every radiation known and produced no new species.

Jason Head, assistant professor of Earth and Atmospheric Sciences,
at the University of Nebraska Lincoln
holds a fossil and fossil cast from the jawbone of
Barbaturex morrisoni, a large ((2 meters; 30 kgs) lizard
that coexisted with mammals in southeast Asia
40 million years ago. (Press release here.)

Epigenetics is the study of how environmental factors affect the expressions of genes.  We know that we share something like 90% of our DNA with yeasts - and yet we are very different from them. We know that strawberries have not a double helix, but a quadruple helix - yet they are not "superior" to us double helix lifeforms.  
  

A series of prehistoric creature illustrations demonstrates
the evolution of mammals through the ages.
More fact than fiction, these wild characters followed transitional Jurassic period animals
that sported mammalian skull traits and reptilian teeth.
A more familiar design, humans, mark the present.
- National Geographic, "The Rise of Mammals"

Random mutations adapting to changing environments is a (partial) explanation. Radiation seems to create such mutations, also. Epigenetics offers another aspect of understanding. It seems that the mechanisms of process are inherent in all life, but the millions of components are active or inactive according to causes we may now be coming to understand -- given that in 50 or 100 years some other engine will be discovered. 

Also on Necessary Facts
Epigenetics 
The Origin of What?
Biohackers 
Bob Swanson and Genentech 

Epigenetics

It is not surprising that we share 98.9% of our genome with chimpanzees.  It is challenging to consider that we have about the same number of genes as mice and fish; but we have far fewer genes than plants.  It is a high school science experiment to extract DNA from strawberries. Rather than a double helix, their DNA is wrapped in a quadruple helix. Obviously, the chromosomes and genes are only part of the picture.

“Every time we see two things which are genetically identical, but which aren't the same, we're seeing epigenetics in action.” – Nessa Carey.

Epigenetics is often presented as a new frontier in biology. In fact, the word originated in the 1940s; and the first book came out a decade later. Following Crick and Watson, science was focused on the chromosomes, and then on the genes.  The Human Genome Project was declared to be successful and the equivalent of Project Apollo, both for the complexity of the task and for its promise for our future.  Enter into your Web browser the phrase “scientists find gene for” and it would seem that we are living on the Moon.

• The Epigenetics of Birds by C. H. Waddington (Cambridge University Press, 1952), reviewed by: J. T. Marshall in Bios, Vol. 24, No. 1 (Mar., 1953), p. 59.
• Epigenetics. A Treatise on Theoretical Biology by Soren Lovtrup (Wiley, 1974), reviewed by Clifford Grobstein in The Quarterly Review of Biology, Vol. 50, No. 4 (Dec., 1975), p. 439.

Ghost in Your Genes: PBS Nova (BBC 2006; WGBH 2007, 2008) delivers graphic evidence that genetics is not heredity.  Identical twins raised in the same home diverge, one developing autism.  Twin sisters discover that one has cancer, but the other does not.  The town of Överkalix in northern Sweden provided a paradigmatic story of the effects of environment on heredity as grandparents who had suffered starvation passed the consequences not to their children, but to their grandchildren – depending on the sex of the ancestor and the sex of the descendant. 

The same differentiation was shown in the twins Jenna and Bridget. Bridget’s autism is associated with a genetic deletion in Chromosome 15 - the ubiquitin-protein ligase E3A (UBE3A) gene (Mayo Clinic here).  It is called Angelman Syndrome. However, the same deletion is also associated with Prader-Willi Syndrome, a form of obesity.  The outcome depends on whether the X-chromosome carrying it is inherited from the mother or from the father.  The chromosomes and genes themselves are identical in both cases; the expressions are markedly different.

“The route from genes to morphological characters is convoluted and, in many aspects, still escapes us. This is the reason why we have no hypothesis or model yet of the sequential steps of the development of an organ. There is no evidence that any part of the genome (a gene or a number of genes) codes or determines steps for developing a brain, a heart, or even a strand of hair. It is true that genes or genetic networks are involved or responsible for developing such characters, but their involvement is not linear: a number of different types of cells have to be differentiated and arranged in specific spatial patterns in order to form the organ. But both cell differentiation (Christopher and Helin, 2010) and dedifferentiation (return of cells to pluripotency) (Takahashi and Yamanaka, 2006), as well as activation of gene regulatory networks (Cabej, 2010, pp. 23-24, 39-80), are epigenetically rather than genetically determined. -  Building the Most Complex Structure on Earth: An Epigenetic Narrative of Development and Evolution of Animals by Nelson R. Cabej (Elsevier, 2013, pg 67.)

As depicted in the PBS Nova production, the Överkalix study revealed an array of distinctions laid over the chromosomal inheritances.  Diabetes, early death, or longer life in the descendants depended on whether the affected ancestor was male or female. Whether the ancestor was within the womb or out also effected contrasting outcomes. Exactly when during gestation the event occurred also effected a different result.  

Wikipedia has a bit more to say. “The Överkalix study was a study conducted on the physiological effects of various environmental factors on transgenerational epigenetic inheritance. The study was conducted utilizing historical records, including harvests and food prices, in Överkalix, a small isolated municipality in northeast Sweden. The study was of 303 probands, 164 men and 139 women, born in 1890, 1905, or 1920, and their 1,818 parents and grandparents. 44 were still alive in 1995 when mortality follow-up stopped. Mortality risk ratios (RR) on children and grandchildren were determined based on available food supply, as indicated by historical data. Among the sex-specific effects noted; a greater body mass index (BMI) at 9 years in sons, but not daughters, of fathers who began smoking early. The paternal grandfather's food supply was only linked to the mortality RR of grandsons and not granddaughters. The paternal grandmother's food supply was only associated with the granddaughters' mortality risk ratio.  … The father's poor food supply and the mother's good food supply were associated with a lower risk of cardiovascular death.”

In The Epigenetics Revolution (Columbia University Press, 2012), virologist Nessa Carey tells a similar story from the Dutch Hunger Winter of 1945.  “If a mother was well-fed around the time of conception and malnourished only for the last few months of the pregnancy, her baby was likely to be born small. If, on the other hand, the mother suffered malnutrition for the first three months of the pregnancy only (because the baby was conceived towards the end of this terrible episode), but then was well-fed, she was likely to have a baby with normal body weight. … The babies who were born small stayed small all their lives, with lower obesity rates than the general population. For forty or more years, these people had access to as much food as they wanted, and yet their bodies never got over the early period of malnutrition. …  Even more unexpectedly, the children whose mothers had been malnourished only early in the pregnancy had higher obesity rates than normal.” (pp 3-4). And this tendency to overweight was inherited in the grandchildren (pg. 102).

Nessa Carey has a virology PhD from the University of Edinburgh. She worked for five years at the Metropolitan Police Forensic Science Lab in London. (Her website is here.) In this book, she carries the analogy of a Shakespeare play. The text of Romeo and Juliet is the same for everyone. Almost every cell of your body has exactly the same chromosomes. (Red blood cells and sex cells are exceptions.)  But you do not grow teeth in your eyes. The director’s comments, distributed with the script, provide more information. Methylation and histone deacetylations change the expressions of genes. Moreover, actors write notes in pencil or attach Post-its.  We smoke cigarettes, drink alcohol, and ingest insecticides and herbicides. They affect us, of course, but it seems likely that they also affect our grandchildren.

These facts, should have been the clues to scientists that the chromosomes, the genes, DNA and RNA must be directed by other agents. Otherwise, as Carey says several times, you would grow teeth in your eyes.  By analogy to the exploration of space, a series of giant steps over centuries allowed us to plot the orbits of the planets correctly.  The work of Darwin, Mendel, Crick and Watson, the human genome project, all provided the shoulders of giants for today's research. Epigenetic medicine may be the equivalent of the Lunar colony.

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Bob Swanson and Genentech

Disruptive Diagnostics and the Business of Science

Bob Swanson and Genentech

Money is a culture medium for growing viable enterprises into self-sustaining engines of creation. 

Bob Swanson was 29 when he provided the money for Prof. Herbert Boyer to start Genentech.  Like all overnight successes, the real story is more complicated, with deep roots.  Bright, accomplished, and motivated, Swanson had obvious potential – and a string of failures to show for it.  In the documentary, Something Ventured (see below), Thomas J. Perkins said that his firm, Kleiner Perkins Venture Capital, brought on Bob Swanson, but “there was not much for him to do.”  Swanson said that he would look into biotechnology.  Perkins replied that if something was there, they would be interested, otherwise… And at that point, Perkins trailed off into a gesture and face.  Clues are always little things.

“So we hired Bob Swanson, whom Eugene Kleiner had known through venture capital circles. Bob had worked for Citibank in their venture capital operation and he and Eugene had been involved in a failed deal. Eugene had been impressed with Swanson's ability to think straight and get things done. So when Bob was looking for a new position, we hired him. That would have been about late 1974. We were in Embarcadero Center Two then, on the top floor.[…]  Bob worked on various deals for us. And, I have to say, not very successfully. Eugene, in particular, was increasingly unhappy with Bob. He didn't think much was going to be happening.” – Thomas Perkins [Source 5]

Robert A. Swanson was born in Brooklyn, New York, November 29 1947.  When he was still an infant, his family moved to Florida where his father worked for Eastern Airlines.  He attended MIT and completed his bachelor’s in chemistry in 1969 and followed that in 1970 with an MBA at the Sloan School of Management.  [Source 1] (Wikipedia gives 1970 as the year of both degrees.) 

Immediately after completing his MBA, he was hired by Citicorp Venture Capital.  Within three years, they were impressed enough with him that he was sent to San Francisco to open a Citicorp Venture Capital Office there.  In 1975, he joined Kleiner, Perkins, Caufield & Byers.  (Perkins recalled that as “late 1974.”) [Source 5]

Swanson had read about the research in recombinant DNA and gene splicing.  He sought out Dr. Boyer and asked for 10 minutes.  The two men spent three hours in a tavern.  Swanson’s knowledge of chemistry served him well, as he could understand the nuances in the different techniques being pursued by different researchers.  Swanson saw the market for Boyer’s work.  They launched Genentech on April 7, 1976. [Source 2]

In 1977, Genentech started with human growth hormone by contracting for production with City of Hope Hospital in Los Angeles and with the University of California at San Francisco. That allowed Genentech to move up to cloned human insulin in 1978.  They followed that with other successes: alpha interferon, gamma interferon, a hepatitis B vaccine, and thrombolytic (clot-producing) agents for hemophiliacs, and then tissue plasminogen activator (TPA) to dissolve blood clots associated with heart attacks.

America’s bilateral East Coast / West Coast dichotomies are easy to cite, especially in technology.  (In Hackers: Heroes of the Computer Revolution, Steven Levy pointed out that the Spacewars video game came from MIT, whereas Stanford gave us Adventure, based on Lord of the Rings.)  But Robert Swanson understood the importance of social capital, built with strong employee bonds.   His scientists could publish their work, something most big drug companies were reluctant to allow.  Also typical of the West Coast, Genentech held Friday parties known as ho-hos.  As Genentech researchers remembered it: 

“The Ho-Ho tradition began simply with refreshments for employees every Friday afternoon. At the end of one particularly hectic work week, a manufacturing VP said, "Oh, another Friday afternoon, ho, ho, ho, ho." And the name stuck. …
The Ho-Ho was an occasion for play and absurdity. One time Swanson and Boyer came dressed up as Tweedledee and Tweedledum… But from the start, Ho-Hos were more than just fun. To Swanson, the Ho-Ho was “a wonderful idea, because you need a place where people at all levels of the organization, from the president on down, can get together in their shirtsleeves and talk about the issues, as equals... One of the things you worry about, as you get higher in an organization, is whether people are comfortable telling you the truth about the way they see the needs of the company - where are we screwing up as a company?” 

The firm posted a profit in 1979 and went public in 1980. That public offering came at some human cost for the venture capitalists.  Perkins and Swanson disagreed on the timing, with Swanson being opposed to going public.  Eventually, Swanson saw Perkins’s point, but their strained relationship was worse off for it.  Still, Bob Swanson worked as CEO of Genentech through its steepest growth curve through 1990.  Tom Perkins was chairman of the board.  Then, from 1990-96 Swanson served as chairman.  In 1990, Genentech and Roche Holding Ltd. completed a $2.1 billion merger. Initially Hoffman-LaRoche bought a majority interest in Genentech. Then in 2009, LaRoche bought the rest of the stock, but turned around and sold off blocks of it in to the public.

After leaving Genentech Bob Swanson formed a private investment management firm (K & E Management), and served as chairman of Tularik, Inc., a firm researching gene expressions that can be harnessed to produced therapeutics. He also volunteered his time to civic organizations and to his daughters’ soccer teams.

In the book, 1,000 Years, 1,000 People: Ranking the Men and Women Who Shaped the Millennium, (New York :, Kodansha International, 1998) the authors ranked Bob Swanson number 612 for launching the biotechnology revolution.

After a year of battling brain cancer via surgery and chemotherapy Bob Swanson passed away on Monday, December 6, 1999, at his home in Hillsborough, California. (The Guardian gave it as November 30.)  He was 52.

Sources:

1. http://web.mit.edu/newsoffice/1999/swanson-1208.html (Obituary)

2. http://www.gene.com/about-us/leadership/our-founders (Tribute)

3. http://www.nytimes.com/1999/12/07/business/robert-a-swanson-52-co-founder-of-genentech.html (Obituary)

4. http://www.guardian.co.uk/science/1999/dec/10/obituaries.genetics (Biography)

5. http://content.cdlib.org/view?docId=kt1p3010dc (Program in the History of the Biological Sciences and Biotechnology: Kleiner Perkins, Venture Capital, and the Chairmanship of Genentech, 1976-1995; interviews conducted by Glenn E. Bugos, Ph.D.)

6. "The Origins of Biotechnology: A Genentech Perspective"

http://blog.zymergi.com/2013/01/origins-biotech-genentech.html

(Personal recollections and images of artifacts including company newsletters.)

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