Mark Skolnick

Last updated
Mark Skolnick
Born
Mark Henry Skolnick

(1946-01-28) January 28, 1946 (age 78)
Education UC Berkeley, Stanford University (PhD 1975)
Known for Restriction fragment length polymorphism (RFLP)
Awards American Medical Informatics Association
Scientific career
FieldsEconomics, genetics
Institutions University of Utah, Myriad Genetics

Mark Henry Skolnick (born January 28, 1946) is an American geneticist [1] and the founder of Myriad Genetics Inc, an American molecular diagnostic company based in Salt Lake City, Utah. His highest cited paper is "Construction of a genetic linkage map in man using restriction fragment length polymorphisms" at 14901 times, according to Google Scholar. [2]

Contents

Early life and education

He was born in 1946 in Temple, Texas and earned his B.A. at University of California at Berkeley in 1968 and a Ph.D at Stanford University in 1975. [3] 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.” [4] 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. [4] 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.” [4]

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. [5]

He directed the group that cloned the breast cancer susceptibility gene, BRCA1; found the full-length sequence of BRCA2. [6]

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." [7] 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” [7] 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. [8]

Awards

Related Research Articles

In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, populations, or species or to pinpoint the locations of genes within a sequence. The term may refer to a polymorphism itself, as detected through the differing locations of restriction enzyme sites, or to a related laboratory technique by which such differences can be illustrated. In RFLP analysis, a DNA sample is digested into fragments by one or more restriction enzymes, and the resulting restriction fragments are then separated by gel electrophoresis according to their size.

A restriction digest is a procedure used in molecular biology to prepare DNA for analysis or other processing. It is sometimes termed DNA fragmentation, though this term is used for other procedures as well. In a restriction digest, DNA molecules are cleaved at specific restriction sites of 4-12 nucleotides in length by use of restriction enzymes which recognize these sequences.

A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species. It can be described as a variation that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change, or a long one, like minisatellites.

<span class="mw-page-title-main">Amplified fragment length polymorphism</span>

Amplified fragment length polymorphism is a PCR-based tool used in genetics research, DNA fingerprinting, and in the practice of genetic engineering. Developed in the early 1990s by KeyGene, AFLP uses restriction enzymes to digest genomic DNA, followed by ligation of adaptors to the sticky ends of the restriction fragments. A subset of the restriction fragments is then selected to be amplified. This selection is achieved by using primers complementary to the adaptor sequence, the restriction site sequence and a few nucleotides inside the restriction site fragments. The amplified fragments are separated and visualized on denaturing on agarose gel electrophoresis, either through autoradiography or fluorescence methodologies, or via automated capillary sequencing instruments.

<span class="mw-page-title-main">Gene mapping</span> Process of locating specific genes

Gene mapping or genome mapping describes the methods used to identify the location of a gene on a chromosome and the distances between genes. Gene mapping can also describe the distances between different sites within a gene.

DNA banking is the secure, long term storage of an individual’s genetic material. DNA is most commonly extracted from blood, but can also be obtained from saliva and other tissues. DNA banks allow for conservation of genetic material and comparative analysis of an individual's genetic information. Analyzing an individual's DNA can allow scientists to predict genetic disorders, as used in preventive genetics or gene therapy, and prove that person's identity, as used in the criminal justice system. There are multiple methods for testing and analyzing genetic information including restriction fragment length polymorphism (RFLP) and polymerase chain reactions (PCR).

<span class="mw-page-title-main">David Botstein</span> American biologist

David Botstein is an American biologist who is the chief scientific officer of Calico. He was the director of the Lewis-Sigler Institute for Integrative Genomics at Princeton University from 2003 to 2013, where he remains an Anthony B. Evnin Professor of Genomics.

Terminal restriction fragment length polymorphism is a molecular biology technique for profiling of microbial communities based on the position of a restriction site closest to a labelled end of an amplified gene. The method is based on digesting a mixture of PCR amplified variants of a single gene using one or more restriction enzymes and detecting the size of each of the individual resulting terminal fragments using a DNA sequencer. The result is a graph image where the x-axis represents the sizes of the fragment and the y-axis represents their fluorescence intensity.

<span class="mw-page-title-main">Mary-Claire King</span> American geneticist

Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.

<span class="mw-page-title-main">Myriad Genetics</span> American biotechnology company

Myriad Genetics, Inc. is an American genetic testing and precision medicine company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease. This information is used to guide the development of new products that assess an individual's risk for developing disease later in life, identify a patient's likelihood of responding to a particular drug therapy, assess a patient's risk of disease progression and disease recurrence, and measure disease activity.

The following outline is provided as an overview of and topical guide to genetics:

Diversity Arrays Technology (DArT) is a high-throughput genetic marker technique that can detect allelic variations to provide comprehensive genome coverage without any DNA sequence information for genotyping and other genetic analysis. The general steps involve reducing the complexity of the genomic DNA with specific restriction enzymes, choosing diverse fragments to serve as representations for the parent genomes, amplify via polymerase chain reaction (PCR), inserting fragments into a vector to be placed as probes within a microarray, and then fluorescent targets from a reference sequence will be allowed to hybridize with probes and put through an imaging system. The objective is to identify and quantify various forms of DNA polymorphism within genomic DNA of sampled species.

<i>BRCA</i> mutation Medical condition

A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact. Harmful mutations in these genes may produce a hereditary breast–ovarian cancer syndrome in affected persons. Only 5–10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations, but the impact on women with the gene mutation is more profound. Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation does not guarantee that the woman will develop any type of cancer, or imply that any cancer that appears was actually caused by the mutation, rather than some other factor.

Sir Bruce Anthony John Ponder FMedSci FAACR FRS FRCP is an English geneticist and cancer researcher. He is Emeritus Professor of Oncology at the University of Cambridge and former director of the Cancer Research UK Cambridge Institute and of the Cancer Research UK Cambridge Cancer Centre.

Ronald Wayne "Ron" Davis is professor of biochemistry and genetics, and director of the Stanford Genome Technology Center at Stanford University. Davis is a researcher in biotechnology and molecular genetics, particularly active in human and yeast genomics and the development of new technologies in genomics, with over 30 biotechnology patents. In 2013, it was said of Davis that "A substantial number of the major genetic advances of the past 20 years can be traced back to Davis in some way." Since his son fell severely ill with myalgic encephalomyelitis/chronic fatigue syndrome Davis has focused his research efforts into the illness.

Bulked segregant analysis (BSA) is a technique used to identify genetic markers associated with a mutant phenotype. This allows geneticists to discover genes conferring certain traits of interest, such as disease resistance or susceptibility.

Albert Fredrik de la Chapelle, MD, Ph.D was a Finnish human geneticist, long-time head of Finland's first Department of Medical Genetics at the University of Helsinki, and subsequently professor of Human Cancer Genetics at Ohio State University. He was best known for his role in the elucidation of the genetics of hereditary colorectal cancer and Lynch syndrome.

Mouse News Letter (MNL) was a bulletin of mouse genetics information published from 1949 to 1998. In 1990 Mouse News Letter changed its name to Mouse Genome which merged with the journal Mammalian Genome in 1998. Mouse News Letter now exists as a company, Mouse News Letter Ltd, which promotes the science of Genetics and provides funds to enable younger scientists to attend Genetics Conferences. “To survey the history of the Mouse News Letter is to see the history of mouse genetics unfold.” So wrote Mary F Lyon in 1997.

James Francis Gusella is a Canadian molecular biologist and geneticist known for his work on Huntington's disease and other neurodegenerative diseases in humans. He is the Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School and an investigator at the Center for Genomic Medicine at the Mass General Research Institute.

DNA: The Story of Life is a four-part Channel 4 documentary series on the discovery of DNA, broadcast in 2003.

References

  1. "Fierce competition marked fervid race for cancer gene". The New York Times . September 20, 1994. Retrieved December 26, 2017.
  2. "Mark Skolnick" . Retrieved 17 June 2024.
  3. 1 2 "Mark H. Skolnick". utah.edu. Retrieved December 26, 2017.
  4. 1 2 3 Davies, K., White, M. (1996). Breakthrough, The Race to Find the Breast Cancer Gene. Published by John Wiley & Sons, Inc. ISBN   0471120251
  5. "Skolnick, Mark H., Ph.D.: History of the Health Sciences". Marriott Library Collections. Spencer S. Eccles Health Sciences Library, University of Utah. Retrieved 21 May 2017.
  6. "Mark Skolnick". dnalc.org. Retrieved December 26, 2017.
  7. 1 2 Skolnick, M. Declaration of Mark Skolnick.UNITED STATES DISTRICT COURT FOR THE SOUTHERN DISTRICT OF NEW YORK.No.09 Civ.4515 (RWS)
  8. Botstein, D; White, RL; Skolnick, M; Davis, RW (May 1980). "Construction of a genetic linkage map in man using restriction fragment length polymorphisms". Am. J. Hum. Genet. 32 (3): 314–331. PMC   1686077 . PMID   6247908.
  9. Angier, Natalie (September 20, 1994). "Fierce Competition Marked Fervid Race For Cancer Gene". New York Times. Retrieved October 15, 2018.