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Monday, February 27, 2012

My Ode to Victor McKusick

A friend of mine recently got me talking about Marfans disease. It brought up my memories of my distant relative, Victor McKusick. I was the editor of our McKusick Clan publication and wrote an article about Victor at the time of his death. This is that article:

Johns Hopkins Associate Victor McKusick Wins Prestigious Japan Prize
                                                          jhu.edu

Victor A. McKusick, M.D., University Professor of Medical Genetics at the Johns Hopkins University School of Medicine, was the 2008 recipient of the prestigious Japan Prise in Medical Genetics and Genomics, the Science and Technology Foundation of Japan announced today in Tokyo.

The sole laureate in his category that year, McKusick, widely renowned and lauded as the Father of Genetic Medicine, received a medal and fifty million yen ($470,000) at a formal presentation April 23rd in Tokyo, attended by the Japanese Emperor and national dignitaries.

Funded principally by the Matsushita Electric Industrial Co. Ltd., the Japan Prize, then in its 24th year, is awarded to living individuals worldwide whose original and outstanding achievements in science and technology are recognized as having advanced the frontiers of knowledge and served the cause of peace and prosperity for mankind, according to the foundation's description.

"I am deeply appreciative and grateful for this wonderful honor. In my view, it also honors the contributions and support of Johns Hopkins, and of my colleagues and students over many decades," said McKusick, for whom the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins was named in 1999.

"Johns Hopkins has been the proud beneficiary of Victor McKusick's pioneering talents and devotion to the advancement of science and human health for sixty-plus years. He is indeed a Hopkins legend, and it is an honor for all of us to have known him as a clinician, scientist, teacher, and colleague," noted Edward D. Miller, M.D., dean and CEO of Johns Hopkins Medicine.

David Valle, M.D., Henry J. Knott, Professor and Director of the McKusick-Nathans Institute of Genetic Medicine hailed the award as an outstanding, much-welcomed and highly deserved recognition of McKusick's seminal contributions to medical genetics.

Americans Vinton Cerf and Robert Kahn, generally credited with pioneering the Internet, shared the prize in the Information Communication Theory and Technology category. Interestingly, the transfer of McKusick's signature scientific work, Mendelian Inheritance in Man, to the Internet, made McKusick one of the earlier users of that communication technology. Two fields of science are designated each year for the prize, which is celebrated during Japan Prize Week with lectures, academic seminars, and galas in the island nation.

A native of Parkman, Maine, Victor Almon McKusick, at his death 86, grew up with his identical twin, Vincent, on a dairy farm. His parents, both former teachers, are credited with instilling education as a priority in all five of their children. Victor attended Tufts University in Massachusetts for three years before entering the Johns Hopkins University School of Medicine in 1943 without finishing his bachelors degree.

He spent his entire career at Johns Hopkins, completing internship and residency in internal medicine and training as a cardiologist with an interest in study of heart sounds and murmurs (later published as a classic text, Cardiovascular Sound in Health and Disease) and also heart defects.

Victor was led to the then-budding field of genetics when he became the first to describe the cluster of characteristics of Marfan syndrome (Abraham Lincoln is thought to have suffered from Marfan syndrome, a study in which McKusick participated) , an inherited connective tissue disease marked by unusually tall height, heat defects, and other abnormalities. His studies of inherited disorders in the Amish uncovered previously unrecognized, inherited conditions and served as a model for studies in similarly isolated populations elsewhere.

He also worked on the causes and inherent problems of dwarfism and was once named an honorary dwarf.

Studying these patients and those affected by other familial disorders triggered McKusick's determination to identify and catalog genes and chromosomes that result in multiple physical conditions. Peers around the world credit him with almost single-handedly introducing the incorporation of genetics into the practice of medicine.

In 1966, he first published his master compendium of disorders and genetic factors in disease, formerly titled Mendelian Inheritance in Man: Catalogs of Autosomal Recessive, and X-linked Phenotypes. Now known as OMIM (Online Mendelian Inheritance in Man) or simply the Catalog, it is continually updated online at http://www.ncbi.nlm.nih.gov/omim/ and is considered a bible for medical geneticists around the globe.

A key architect of the Human Genome Project and winner of the 2001 National Medal of Science, the United States' highest scientific prize, McKusick was also the recipient of the 1997 Albert Lasker Award for Achievement in Medical Science and numerous awards and honorary degrees. Victor was the founding president of The Human Genome Organization or HUGO, an international coordinating body for the human genome initiative.

McKusick was the co-founder of a course in experimental and human genetics held at the Jackson Laboratory in Bar Harbor, Maine, in its forty ninth year in 2008, and widely credited with training generations of genetic medicine practitioners and scholars. In 2004, more than 450 donors, include Nobel Laureates, contributed funds to establish the Victor A. McKusick Professorship in Medical Genetics at Johns Hopkins.

McKusick's six decades at Johns Hopkins constituted the longest uninterrupted service of any faculty member since the school opened in 1893. He served as the William Osler Professor of Medicine, chairman of the Department of Medicine, and from 1973 to 1985, physician-in-chief at the Johns Hopkins Hospital.

Among those who accompanied McKusick to Tokyo were his wife, Anne McKusick, M.D., their two sons, his twin brother, Vincent, and David Valle.

Previous winners of the Japan Prize with Johns Hopkins connections were immunologist Kimishiga Ishizaka, a faculty member in the Department of Medicine from 1970 to 1989, who won the prize in 2000; and D.A. Henderson, former dean of the Johns Hopkins Bloomberg School of Public Health, who won the prize in 1988.

Victor died of cancer on July 22, 2008.

Further information on the Japan Prize can be found at http://www.japanprize.jp/prize/prize_e1.htm  . Further information on the McKusick-Nathans Institute of Genetic Medicine can be found at  http://www.hopkinsmedicine.org/geneticmedicine/  .

News media contact: Joann Rodgers at jrodgers@jhmi.edu and Audry Huang at audrey@jhmi.edu

Monday, February 20, 2012

Hugs and Saguaros


So this is my little story:
We went out to the Saguaro National Park (about fifteen miles down the road) on Saturday to count cacti for an Eagle project. I was grousing around for much of the morning trip because I had to drive out there, and, because we have a huge van, haul fifteen people down the windy road to the census site, drop them off, and then complete the windy eight mile loop (at fifteen miles per hour dodging hikers and bikers) back out to take my daughter to Tucson Jr. Strings practice.

We'd already dropped one daughter off at Orchestra Regionals and I would have to go back to the house and fetch her forgotten performance clothes, take them to her, and pick the youngest daughter back up from TJS and take her back out to the site to do the census.

In other words, it was a REALLY busy day with a bunch of logistical problems. I was exhausted from lack of sleep, hadn't had breakfast, and having to go fifteen miles an hour when we were late just tore at my speed-loving psyche. I must say I whined like a two-year-old. (And did those curves at 40 mph--it was lucky I never hit anyone.)

On the way to the census site I found out I'd left my sunglasses home; it was glaringly bright out there and I really needed them. So the idea was to get my sunglasses, the clothes, and some extra water when I went home.

Well...I couldn't find my sunglasses anywhere. They were brand new and I really needed them, so I started praying, all the while knowing that it was a stupid thing to be obsessing over. Because faith without works is dead I started putting various family members' things away which they'd left in the living room and checking under them. A little voice kept saying, "Well put that away. How about that pile of stuff? And that?" After a while I'd done service for everyone in the family.

No sunglasses.

The thought (mine, I'm sure) occurred to me that I should stop bugging God, especially when I still had my old, scratched pair to use. Finally I'd cleaned up the whole living room; I decided that I'd just have to use the others. No catastrophe. I should just stop whining and take off.

I was going out the door when I noticed one of my decorative magnetic hearts on the floor next to the door. They almost never fall off the metal coat closet. I was in a hurry so I wasn't going to pick it up, but at the last minute I changed my mind and bent to retrieve the heart.

There, caught behind the couch and right next to that heart, were my sunglasses!

I just started to laugh and cry all at once. And I felt ashamed that I'd spent so much of that glorious morning grousing about minor annoyances.

This was a really little thing. But the significance of that heart on the floor next to the glasses I'd been praying about, let me know that my Father in Heaven had just given me a hug to let me know that even the little things matter to Him.

Friday, February 10, 2012

Poking the Tiger

Well. I've done something truly asinine. My mail system indicated that it was in need of updating. So blithely I hopped on the bandwagon without backing up my W.I.P.s on a thumb drive. STUPID! It's a wonder I can walk and breathe at the same time. Thinking is apparently on the level of blue mold.

But the failure to back up wasn't the only idiocy. If it had been, I'd be happily slaving away so as to be ready to pitch the thing at our ANWA (American Night Writers Association) conference on the 23rd. ACK! I was in a race as it was.

My Knight-in-shining-armor (better known as the Hubs) rode to my aid and instituted not one but two overhauls. The first one worked with only a few minor calamities. But the second has been the Perfect Storm. 

And it's all my fault (or so the said K.I.S.A. says). 

The downloads were going long (as in past the 1am bedtime) so the hubs went to bed and left the little critter working away like a beaver. That might have been alright if it weren't for the morning visit of Queen of the Dolts. I found that the monitor was black. So instead of listening to that little voice which said, "DON'T touch anything on pain of (my) death," I picked up the stick and poked the sleeping tiger right in the eyeball.

I have no idea what possessed me to do that. Heaven knows I've seen Time Bandits. We even have a family catch-phrase from that movie that we say all the time: "Don't touch it! It's EVIL!" But I did. Big time. I wiggled the mouse, hit F1, then since the monitor was still not responding, I hit control-alt-delete. You ask what the heck happened to my mental acuity? No clue. I must have hit control-alt-delete on that too. Then I felt so incredibly stupid that I didn't tell said Knight-in-shining-armor right up front what I did to my poor baby.

So the upshot of the matter is that I have jacked up my computer and caused my K.I.S.A. a whole lot of aggravation. My computer is still not back to full health (it thinks it has no hard drive or something) and I am worried that I won't be able to retrieve the whole last part of my three W.I.P.s. (That would, of course, be so cataclysmic that I'd have to bury myself in bed and bawl for a few weeks.) I am, however, concentrating on praying for my poor computer-without-a-brain and being positive that it will emerge from the ashes of my idiocy with a whole new outlook on life.

So I've learned three lessons here:
1. Back it up, you idiot!!!
2. Don't poke the tiger!!!
3. Pray like it's all your fault but you know Heavenly Father can fix it--since he knows it ALL.

Here's KNOWING the Hubs will win the day and bring my baby back to life. 

Addendum: My K.I.S.A. RULES! Not only is my baby back up and running, but it's wearing a whole new set of clothes. I'm learning my way around and about the second minute I was on, I backed up all my books. I am over the moon grateful for my husband's unstinting dedication and willingness to be lead by the Spirit.
I think I broke God's ear battering it with my frequent prayers. It worked!

Monday, February 6, 2012

On Wolves and Fish

I wrote this post last night and, after publishing it, hit the wrong X and the post was GONE. I was just sick about it, since it was really good. So here is what I've been able to dredge from the dust-bunny-riddled recesses of my mind:


I have finally done it! I made Small Deceptions an e-book! It's OUT! I'm so excited about the prospect of tossing my book out into the ether river and watching the nickels and dimes float in--kind of like being licked to death by a chihuahua.

There's something so poignant about watching your children leave the sanctuary of your heart to go out and seek their fortunes. Now there are other works, still unclothed and shivering, waiting for their snow boots and fluffy coat before I push them out into the storm to be pelted by ice balls. At least I know that I can do it, now. Don't forget your mittens, my babies! (I know I'm mixing metaphors but I like the visual.)

I send them out over the ether with a little trepidation. For one thing, everyone and their dog got a Kindle or Nook or I-pad for Christmas. The "Going thing" is the e-book. I'm not sure if it's because of all the times I read and watched Fahrenheit 451 or my own latent paranoia, but I worry about putting all our fish in one basket. For this reason I have more books than clothes in my house. I can't imagine not getting a new stack of books for every holiday. I'd rather buy books than chocolate.

However, I, as have many authors, have jumped blithely into the river. New manuscripts are jamming the airwaves like salmon swimming upriver to spawn. For merely a gallon of sweat and a few (sometimes) tortured hours at the computer, we can crank out about anything. And like what happens to salmon at the end of the river, some books end as a shredded hash. Many of the books I've read on my own new Christmas Kindle are exquisite, but some have come to a bad end. Those have raggedy andy kerning, grammar and spelling mistakes, and a host of other errors.
                                         Photograph by Ian McAllister/Getty Images

Another reason this whole e-book thing bothers me is that they are pulling so many customers out of the river that bookstores are dying. Take, for example, one of my favorite stores, Barnes and Noble. It's a giant chain store and it's closing stores at an alarming rate! B&N! I always thought that it was sad Borders went down, but I always had my favorite back-ups.

Now I'm not so sure. Another favorite, Latterday Cottage (Bookstore), is struggling. It's not just an over-extension thing which is happening to the big stores. It's happening across the board. Books are disappearing off of their shelves, not because they're not being stocked, but because they don't have the money to buy new product. People are at home thumbing through their device of choice, not spending delicious hours grazing.

While I like the idea of shopping from the comfort of my own home sometimes, there is something to be said for walking into the store and taking a deep breath--pulling the scent of new books inside yourself. There's something for losing yourself in the luscious stacks of books; for being able to look over at the oddball next to you in the slouchy pants, stocking cap, and muffler and seeing what he's reading. I like to be able to grin at the person next to me and say, "I know this author! She (or he) is a fantastic person!" I enjoy going and sitting cross-legged in the children's section and remembering what Terabithia looked like in my head. I love being able to tell the grinning salesperson that I loved their store or a particular book and have them give me that knowing look which says they understand my love of print on paper.

You can't get those experiences on-line. There's a great little fast click and you're done. No contact, eye or otherwise--just an invisible fairy delivering your print to your device.

The most worrisome part is this: all of these books swimming upstream have attracted wolves--wolves who want to control what the public may read. These wolves have already tried several times to control what we post or read on the Internet under the guise of pirating abatement. There was a huge outcry and the wolves have backed away for a bit--at least on the surface. They'll get their measures passed somehow, as their main goal is power. Knowledge is power and they want to control it.

So when the bookstores and print publishing houses go down, we will be at the mercy of those wolves. I know this sounds far-fetched, but it can easily happen. The means are in place as we speak. There are countries all over the world who know about this problem first hand. I've been to or lived in many of them. I'll tell you right now that the wolves are very real and very vicious.

We can't let the siren call of the Internet bleed away our possibilities. We can't let our bookstores and publishing houses go down from neglect. Hold back the wolves and let the books come home and go out. Let my babies fly freely out into the arms of people who will love them.

Swim, my pretties!