Sunday, September 15, 2019

Francis Collins, Mapper of the Human Genome

Mapmaker
Volume XVII, Issue IX

Mapper of the Human Genome

God is the great architect. He is the builder of worlds without end, the maker of the solar and sidereal universe, of the infinitudes revealed by the microscope and telescope. He is the Great Artist. There is no color unknown to His palette, no hue too subtle to escape His eye, no beautiful image of which He is not the author. God is the great musician, for the winds, the birds, the seas, the thunder, the rustling of the leaves, and the music of the spheres belong to Him. God is the great sculptor, for out of the dust of the ground He made man and woman and ‘Child of the pure unclouded brow, And dreaming eyes of wonder.’ [Lewis Carroll, Alice in Wonderland] He made butterflies and bluebirds, and bears. God is the Great Writer. He is the author of the Bible and also of the joyful cry of millions who come to Him as the source of life.” – Clyde S, Kilby, The Arts and the Christian Imagination, p88.

Francis S. Collins, M.D., Ph.D., a physician-geneticist noted for his landmark discoveries of disease genes, and his visionary leadership of the Human Genome Project (HGP), is the former director of the National Human Genome Research Institute (NHGRI). Dr. Collins, served as NHGRI's director since April 1993. Beside leading the Human Genome Project to completion, he initiated a wide range of research projects that built upon the foundation laid by the sequencing of the human genetic blueprint.

As head of NHGRI, Collins oversaw the HGP, the multidisciplinary, multi-institutional, international effort to map and sequence the 3 billion letters in the human DNA instruction book. Many consider this project to have been the most significant scientific undertaking of our time. The ultimate goal is to improve human health. With Collins at the helm, the HGP attained historic milestones, while consistently running ahead of schedule and under budget. A working draft of the human genome sequence was announced in June 2000, and an initial analysis was published in February 2001. HGP scientists finished the sequence in April 2003, coinciding with the 50th anniversary of Watson and Crick's seminal publication describing the double helix structure of DNA.

But the exploration of the genome is really just beginning. Building upon the foundation laid by the HGP, researchers around the globe are now collaborating on a wide range of projects that are using genomic tools and technologies to expand understanding of human biology and combat human disease.

NHGRI-supported initiatives currently include efforts to map human genetic variation, to develop less costly sequencing technologies and to unravel the genetics of cancer and other common diseases. Following the precedent set by the HGP under Collins' leadership, these projects are committed to making their data rapidly and freely available to the worldwide scientific community.

Beginnings

Raised on a small farm in Virginia's Shenandoah Valley, Collins was home-schooled until the sixth grade. He attended Robert E. Lee High School in Staunton, Virginia, graduating in 1966. Throughout most of his high school and college years, the aspiring chemist had little interest in what he then considered the "messy" field of biology. He earned a B.S. in chemistry at the University of Virginia in 1970 and a Ph.D. in physical chemistry at Yale University in 1974. While at Yale, however, a course in biochemistry sparked his interest in the molecules that hold the blueprint for life: DNA and RNA. Collins recognized that a revolution was on the horizon in molecular biology and genetics. He changed fields and enrolled in medical school at the University of North Carolina, where he earned an M.D. in 1977.

From 1978 to 1981, Collins served a residency and chief residency in internal medicine at North Carolina Memorial Hospital in Chapel Hill. He then returned to Yale, where he was named a Fellow in Human Genetics at the medical school from 1981 to 1984. During that time, he developed innovative methods of crossing large stretches of DNA to identify disease genes.

After joining the University of Michigan in 1984 in a position that would eventually lead to a Professorship of Internal Medicine and Human Genetics, Collins heightened his reputation as a relentless gene hunter. That gene-hunting approach, which he named "positional cloning," has developed into a powerful component of modern molecular genetics.

In contrast to previous methods for finding genes, positional cloning enabled scientists to identify disease genes without knowing in advance what the functional abnormality underlying the disease might be. Collins' team, together with collaborators, applied the new approach in 1989 in their successful quest for the long-sought gene responsible for cystic fibrosis. Other major discoveries soon followed, including isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, and the M4 type of adult acute leukemia.

Leadership at NHGRI

Tapped to take on the leadership of the HGP, Collins accepted an invitation in 1993 to become director of the National Center for Human Genome Research, which became NHGRI in 1997. As director, he oversees the International Human Genome Sequencing Consortium and many other aspects of what he has called "an adventure that beats going to the moon or splitting the atom."

In 1994, Collins founded NHGRI's Division of Intramural Research (DIR), an intramural program of genome research that has developed into one of the nation's premier research centers in human genetics.

Collins was particularly excited by the rapid progress being made in uncovering genetic risk factors for common diseases, such as heart disease, cancer and mental illness. The windfall of findings was made possible by a relatively new research approach, called genome-wide association studies. This approach utilizes tools created by the HGP and the NHGRI-led International HapMap Project, which constructed a map of common human genetic variation.

Collins's work in his highly active lab demonstrated his commitment to research involving both rare and common diseases. In April 2003, a team led by Collins identified the genetic basis of Hutchinson-Gilford progeria syndrome, a rare disorder that causes a dramatic form of premature aging. Besides opening the door to possible treatment strategies for progeria, the discovery may provide insights into the process of normal human aging.

As for common disorders, Collins and his colleagues published a landmark study in the journal Science on genetic variants associated with type 2 diabetes. The findings boosted to at least 10 the number of genetic variants associated with increased susceptibility to the adult-onset form of diabetes, which affects nearly 21 million people in the United States and more than 200 million worldwide.

In addition to his long list of contributions to basic genetic research and scientific leadership, Collins is known for his close attention to ethical and legal issues in genetics. He is a strong advocate for protecting the privacy of genetic information and has served as a national leader in efforts to prohibit gene-based insurance discrimination. Building on his own experiences as a physician volunteer in a rural missionary hospital in Nigeria, Collins is also very interested in opening avenues for genome research to benefit the health of people living in developing nations.

Collins' accomplishments have been recognized by numerous awards and honors, including election to the Institute of Medicine and the National Academy of Sciences. On Nov. 5, 2007, Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research. On August 1, 2008, Collins stepped down to explore writing projects and other professional opportunities. He is currently the director of the National Institute of Health.

Courtesy: National Human Genome Research Institute [1.]

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Vertical section of the human dna.

I will praise thee; for I am fearfully and wonderfully made: marvellous are thy works; and that my soul knoweth right well.” – Psalm 139:14

How the Brain Reads Faces
[click to read]

Brain regions that process faces reveal deep insights into the neural mechanisms of vision

By Doris Y. Tsao

When When I was in high school, I learned one day about the density of curves in an introductory course on calculus. A simple pair of differential equations, which model the interactions of predators and prey, can give rise to an infinite number of closed curves—picture concentric circles, one nested within another, like a bull’s-eye. What is more, the density of these curves varies depending on their location. (read more)

Psalm 19

The heavens declare the glory of God; and the firmament sheweth his handywork.

Day unto day uttereth speech, and night unto night sheweth knowledge.

There is no speech nor language, where their voice is not heard.

Their line is gone out through all the earth, and their words to the end of the world. In them hath he set a tabernacle for the sun,

Which is as a bridegroom coming out of his chamber, and rejoiceth as a strong man to run a race.

His going forth is from the end of the heaven, and his circuit unto the ends of it: and there is nothing hid from the heat thereof.

The law of the Lord is perfect, converting the soul: the testimony of the Lord is sure, making wise the simple.

The statutes of the Lord are right, rejoicing the heart: the commandment of the Lord is pure, enlightening the eyes.

The fear of the Lord is clean, enduring for ever: the judgments of the Lord are true and righteous altogether.

More to be desired are they than gold, yea, than much fine gold: sweeter also than honey and the honeycomb.

Moreover by them is thy servant warned: and in keeping of them there is great reward.

Who can understand his errors? cleanse thou me from secret faults.

Keep back thy servant also from presumptuous sins; let them not have dominion over me: then shall I be upright, and I shall be innocent from the great transgression.

Let the words of my mouth, and the meditation of my heart, be acceptable in thy sight, O Lord, my strength, and my redeemer.”

The Man and the Mountain
[click to read]

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Korczak Ziolkowski’s plaster model of the Crazy Horse sculpture. Three generations of his family have worked on the project.

Korczak Ziolkowski’s Tribute to Crazy Horse

A monument honoring Native American legend Crazy Horse is slowly taking shape high above the Black Hills of South Dakota. For nearly 70 years, crews have been blasting millions of tons of rock off the mountain. Sculptor Korczak Ziolkowski began construction in 1948. His work on Mount Rushmore drew the attention of Lakota Chief Henry Standing Bear who invited him to design a memorial to American Indians. “He said my fellow chiefs and I would like the white man to know the red man had great heroes too,” Ziolkowski told CBS News’ ’60 Minutes.’ His daughter Monique now oversees the work. Crazy Horse’s face was completed in the late 90s. Crews are now working to shape the horse’s head and Crazy Horse’s outstretched hand. In some spots, the crews only have a few feet of rock left to remove, but finishing just the hand will take years.

Caleb Ziolkowski is the third generation of his family to work on the project. “It is hard from a mile away to see the changes,” he said. “Since the time that I started this hand area has changed immensely.” Native Americans say whenever it’s done it will provide a valuable education and ensure Crazy Horse’s place in history. The work is privately funded through admission fees and donations. In addition to a museum, the master plan for the site includes an Indian University of North America. (read more)



Beverley Street, Staunton Virginia
Photo by Michael Hoover

Beverley Street

Rediscovering the Wisdom in American History
[click to read]

By Wilfred McClay

Professional American historiography has made steady advances in the breadth and sophistication with which it approaches certain aspects of the past, but those advances have come at the expense of public knowledge and shared historical consciousness. The story of America has been fractured into a thousand pieces and burdened with so much ideological baggage that studying history actually alienates young Americans from the possibility of properly appreciating their past. Nearly 20 years ago I wrote a small book called The Student’s Guide to U.S. History for ISI Books. I was unable to include in its bibliography a high school or college level textbook on U.S. history, because there was not one suitable for recommendation. But criticism of the status quo is easy. What is harder is to create a better alternative. That was my aim in writing Land of Hope: An Invitation to the Great American Story. (read more)

Kernersville, North Carolina
Photos by Bob Kirchman

Kernersville, NC
St. Paul's Methodist Episcopal Church Cemetery. Slave Graves.

Kernersville, NC
Hibiscus.

I had a wonderful visit to Kernersville, North Carolina with my great friends Adam and Shannon. We stepped into the old Saint Paul's Methodist Episcopal Church Cemetery and saw the simple stones that mark the graves of enslaved human beings. At the Paul J. Ciener Botanical Garden a cheerful hibiscus greeted us. Of course, Kernersville is famous for Körner's Folly, a unique home built in 1880 by artist/designer Jule Gilmer Körner. Measuring 48 feet on each side, the house has a steep cross-gable roof. It was originally built to showcase his interior design portfolio. Visitors can now explore the 22 room house museum and its unique original furnishings and artwork, cast-plaster details, carved woodwork, and elaborate hand laid tile. The uppermost floor is a theater. Polly Körner, Jules' wife, used it for her Juvenile Lyceum Theater.

Kernersville, NC

Kernersville, NC

Kernersville, NC

Kernersville, NC

Kernersville, NC

Kernersville, NC
Körner's Folly.

“The Strangest House in the World”
[click to read]

By Susan Harlan

Built in 1880 and once billed as "The Strangest Home in the World," Körner's Folly in Kernersville, N.C. celebrated its 135th anniversary last Saturday. But it is not really a home in the conventional sense. Artist, decorator, interior designer, and "Man of a Thousand Peculiarities" Jule Gilmer Körner conceived of this structure as an entertaining space, bachelor quarters, horse stables, studio and—most importantly—showroom for the wares of his Reuben Rink Decorating and House Furnishing Company. (read more)

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This old photograph shows the third floor theater and the intricate murals.

Laney’s Palette Art Show
Saturday September 14th, 2019 in Crozet, VA

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Kristina Elaine Greer and a peacock.

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Hummingbirds.

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Dolphins and manatees.

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The Trinity, Father, Son and Spirit.

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Kristina Elaine Greer assisted me on the Journey to Jesus Mural and several publishing projects. She just opened her show at Crozet’s Tabor Presbyterian church with many new works. The show will be hanging in the church for the rest of the month.

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