Mark Skolnick

Early life and education

Skolnick was born in Temple, Texas. His grandparents were from Latvia, Russia, and Germany. His mother graduated from Wellesley College, and his father from Harvard. His parents met at Princeton University, where his father was a Ph.D. student. They subsequently returned to Boston, where he received an M.D. at Harvard. His father taught a clinical post graduate course in psychoanalysis at Stanford, where Skolnick was introduced to the bright Stanford academics at a very young age. “It got put into my head pretty early on that medicine was interesting,” says Skolnick, “but it might be more interesting to be an academic than a doctor. I’m not sure I would have wanted to just focus on seeing ill people.” Skolnick was very good at math but his parents also played a very significant role cultivating his interest in science and in societal causes. “I think I was driven a lot by actually wanting to do something of lasting social significance,” he said. At the age of fourteen he wanted to be a world health doctor, although his early talents were most visible in mathematics.

He studied economics at the University of California, Berkeley, focusing on demography and anthropology. He was mostly interested in quantitative problems. He continued his graduate studies in demography in the same university and his ambition was to link these fields with genetics, studying individuals in a population, rather than large population trends. As he says, “The way you study individuals is in pedigrees, by linking fertility, mortality, migration-parameters for single individuals.” Fortunately, a pioneer in this field, Luca Cavalli-Sforza, was a professor in the Genetics Department at Stanford at this time. Skolnick was allowed to enter the department, but spent most of his graduate career in Pavia, Italy where Cavalli-Sforza was director of the Istituto di Genetica. His thesis was to create a 300 year genealogy of 40 parishes in Parma Valley, Italy. This was accomplished by a computerized linking of the Catholic parish registers for baptisms, marriages, and deaths for these parishes.

He received his PhD from Stanford University in 1975. He then moved to the University of Utah where he began working in collaboration with the Departments of Medical Informatics, Biology, Cardiology and Genetics.

His move to Pavia brought more than a beginning to his scientific career. He met his future wife, Angela Gilberti, the first day he arrived, September 19, 1969. She was the beautiful librarian of the Istituto. It was love at first sight—literally. They were engaged in January and married June 25, 1970. Angela played a major role in his career. As the librarian in this famous genetics center, she was exposed to the thoughts of a number of the most important geneticists of the 1960s. She was thus able to play an active role in Skolnick's developing career, although this role was often keeping his feet on the ground as Skolnick's head, typical of many scientists, was often in the clouds. She also combined acute visual skills with extreme dexterity, resulting in an extraordinary home environment, focused among other things, on a modern interpretation of Italian cooking. These traits were also expressed in interior decoration, sewing, art, and architecture. They reached their peak in maintaining a functioning home environment, as her dexterity was a perfect compliment to his lack thereof.

Scientific career

In 1980, Botstein and his colleagues Ray White, Mark Skolnick, and Ronald W. Davis proposed a method for constructing a genetic linkage map using restriction fragment length polymorphisms that was used in subsequent years to identify several human disease genes including BRCA1. Variations of this method were used in the mapping efforts that predated and enabled the sequencing phase of the Human Genome Project.

In 1984, Mark Skolnick, with two other colleagues formed a company called DMS systems. It was a profit-oriented company of genealogy database system that Skolnick and his colleagues had developed. This company was later bought by Open Vision.

In 1988, Mark Skolnick, formed another company called the Wallace-Skolnick company.

In May 1991, Myriad Genetics, Inc. was a joint formation of Mark Skolnick and Peter Meldrum, which was initially supposed to be called Helix Technologies. This company was particularly dedicated to finding genes for diseases like cancer and heart disease. Myriad Genetics initially did not provide much profit compare to the other biotechnology companies of that time, however what made this company superior to its competitor companies because of the findings of the cancer families that Skolnick had studied for twenty years.

Scientific discoveries

Dr. Skolnick directed the group that cloned the breast cancer susceptibility gene, BRCA1; found the full-length sequence of BRCA2. He cloned the MMAC1 (PTEN) tumor suppressor gene. He cloned a prostate cancer gene (HPC2). He also discovered the tumor suppressor function of p16.

Discovery of BRCAl and BRCA2 genes

Connecting Demography with Genetics: According to Skolnick, “ the first scientific step in my search of the BRCA gene arose from my interest in demography, the study of human populations. The standard wisdom in the 1960s was that this was small field that should be studied with in the contrast of sociology or economics. “ He used the demography and applied to genetics and studied individual in multi-generational families.

Secondly, he formed familial cancer screenings clinic. Skolnick and his colleagues used this clinic to study a number of people in different families with different types of cancers. As Skolnick states, “ This resources was a key to our success” in finding the BRCA genes.

Finally, Skolnick and his group developed a method called Restriction Fragment Length Polymorphisms (RFLPs) for genetic mapping which was also a significant resource for human genome project. After that point on his group focused on this technique and started to map and clone genes that caused diseases. The first gene they cloned successfully using this RFLPs was of Alport Syndrome. This technique was one of many later used for the discovery of BRCA.

Awards and recognitions