Philip L. Townes

Philip Leonard Townes (February 18, 1927 – April 1, 2017)[1] was an American physician, human geneticist, embryologist and developmental biologist who identified Townes–Brocks syndrome (along with Eric Brocks) in 1972 while a Professor of Pediatrics at the University of Rochester.

Dr. Philip L. Townes
Born(1927-02-18)February 18, 1927
Salem, Massachusetts
DiedApril 1, 2017(2017-04-01) (aged 90)
Worcester, Massachusetts
NationalityAmerican
EducationHarvard University, 1948 (AB), University of Rochester, 1953 (PhD), 1959 (MD)
Occupation(s)Physician (pediatrics), human geneticist, embryologist, developmental biologist
Years active1952–1995
Known forDifferential adhesion hypothesis, Townes–Brocks syndrome,
Trypsinogen deficiency disease
Notable workDirected movements and selective adhesion of embryonic amphibian cells. (1955). J. Exp. Zool.

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. (1972). J. Pediatr

Trypsinogen deficiency disease. (1965). J. Pediatr.
SpouseMarjorie G. Townes

As a graduate student, his pioneering work with Johannes Holtfreter served as the basis for the differential adhesion hypothesis that explains cellular movement and differentiation during morphogenesis.[2]

In 1965, he described the first patient with isolated pancreatic trypsinogen deficiency, an inborn error of metabolism, that became known as trypsinogen deficiency disease.[3][4][5]

Early life and education

Philip Leonard 'Len' Townes was born February 18, 1927, in Salem, Massachusetts to Saul and Lillian (Kravetsky) Townes. He graduated from Salem High School and served in the United States Navy during World War II.[1] He attended Harvard University, earning an AB in 1948.[6] He went on to the University of Rochester, earning a PhD from the Department of Biology in 1953 under the mentorship of Johannes Holtfreter,[2][7] and earning an MD in 1959.[8] He completed his residency training in pediatrics at the University of Rochester in 1964 and served as Chief Resident in 1965.

Research

As a graduate student working in the laboratory of Johannes Holtfreter, Townes pioneered a technique for studying the kinetic and morphogenetic phenomena, subsequent to the combination of two or more well defined cell types, that revolutionized the understanding of morphogenesis, and serves as the basis for the differential adhesion hypothesis.[2] With this technique, areas of embryonic tissue (mostly cell layers from amphibian neurulae) were teased from the embryos with glass needles. Once separated they could be recombined with one another. This demonstrated that in the process of sorting out, the different cell types exhibited a cell-specific tendency to arrange themselves in a definite tissue pattern that corresponded to that in normal development. The work was published as Townes' thesis in the classic paper in embryology and developmental biology, 'Directed movements and selective adhesion of embryonic amphibian cells' in 1955 in the J. Exp. Zool. 128:53-120.[9]

Medical career

Townes was a member of the faculty at the University of Rochester in the Departments of Anatomy and Pediatrics from 1952 to 1979. He was named Professor of Pediatrics in 1966 and served as the Chairman of the Division of Genetics and Director of the Genetic Clinic from 1966 to 1979. He served as an honorary research assistant at the University College, London, England between 1965 and 1966.

In 1965, Townes described the first patient with isolated trypsinogen deficiency with secondary lack of activation of chymotrypsin and procarboxypeptidase. The 6-week-old infant was unable to hydrolyze dietary protein due to a singular deficiency of pancreatic trypsinogen. This inborn error of metabolism, resulting in failure to thrive, became known as trypsinogen deficiency disease.

In 1972, he identified a rare inherited syndrome in a father and four of his six children, characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations, subsequently known as Townes–Brocks syndrome. Townes-Brocks syndrome was later found to be caused by a mutation in the SALL1 gene on chromosome 16q12.1.[10][11]

Townes was a member of the faculty and Professor of Pediatrics and Obstetrics and Gynecology at the University of Massachusetts Medical School from 1979 to 1995 where he directed the Genetic Clinic and the Cytogenetics Laboratory. In 1995 he retired to become an emeritus Professor of Pediatrics and Obstetrics and Gynecology.

References
  1. "Philip L. 'Len' Townes – View Obituary & Service Information". Philip L. 'Len' Townes Obituary. Retrieved 2022-02-19.
  2. Steinberg, Malcolm S.; Gilbert, Scott F. (2004). "Townes and Holtfreter (1955): Directed movements and selective adhesion of embryonic amphibian cells". Journal of Experimental Zoology. 301A (9): 701–706. doi:10.1002/jez.a.114. ISSN 0022-104X. PMID 15559931.
  3. Townes, Philip L. (1965). "Trypsinogen deficiency disease". The Journal of Pediatrics. 66 (2): 275–285. doi:10.1016/s0022-3476(65)80184-6. ISSN 0022-3476. PMID 14258916.
  4. Palermo, Joseph J. (2015). "50 Years Ago in The Journal of Pediatrics". The Journal of Pediatrics. 166 (2): 308. doi:10.1016/j.jpeds.2014.08.062. ISSN 0022-3476. PMID 25620515.
  5. Morris, M. D. (1967-08-01). "Trypsinogen Deficiency Disease". Archives of Pediatrics & Adolescent Medicine. 114 (2): 203–208. doi:10.1001/archpedi.1967.02090230133019. ISSN 1072-4710. PMID 5006445.
  6. "Harvard to Confer Academic Degrees on 2265 Students at 297th Commencement Today". The Boston Globe. 10 June 1948. p. 13.
  7. "939 Men and Women Receive Degrees at U of R's 103rd Commencement". Democrat and Chronicle. 8 June 1953. p. 5.
  8. "List of University Graduates Receiving Degrees". Democrat and Chronicle. 8 June 1959. p. 22.
  9. Townes, Philip L.; Holtfreter, Johannes (1955). "Directed movements and selective adhesion of embryonic amphibian cells". Journal of Experimental Zoology. 128 (1): 53–120. doi:10.1002/jez.1401280105. ISSN 0022-104X.
  10. Townes, Philip L.; Brocks, Eric R. (1972). "Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies". The Journal of Pediatrics. 81 (2): 321–326. doi:10.1016/s0022-3476(72)80302-0. ISSN 0022-3476. PMID 5042490.
  11. Kohlhase, Jürgen; Wischermann, Annegret; Reichenbach, Herbert; Froster, Ursula; Engel, Wolfgang (1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–83. doi:10.1038/ng0198-81. ISSN 1061-4036. PMID 9425907. S2CID 20982906.
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