Dennis Drayna

Last updated
Dennis Drayna
Born1952
Education University of Wisconsin, Harvard University (Ph.D. 1981)
Known forStudies of stuttering, human haemochromatosis, pitch, and taste
Scientific career
FieldsGenetics
Institutions Howard Hughes Medical Institute, Genentech

Dennis T. Drayna (born 1952) is an American human geneticist known for his contributions to stuttering, human haemochromatosis, pitch, and taste. He is currently the Section Chief of Genetics of Communication Disorders at the U.S. National Institute for Deafness and Other Communication Disorders. [1]

Contents

Biography

Drayna graduated from the University of Wisconsin in 1976, and obtained a Ph.D. from Harvard University in 1981. He performed his post-doctoral training at the Howard Hughes Medical Institute in the lab of Raymond White, where he created the first full length genetic linkage map of the human X chromosome. [2]

After completing his post-doctoral training, Drayna joined the scientific staff of Genentech in 1985, where, most notably, he cloned and sequenced cholesteryl ester transfer protein [3] among other contributions.

In 1992, Drayna left Genentech to co-found Mercator Genetics, a bio-technology company focused on commercializing human genomic discoveries. [4] Here, Drayna discovered the genetic basis of hereditary haemochromatosis. [5] [6] After Mercator Genetics was acquired by Progenitor in 1997, Drayna joined the Human Genome Project at the National Institutes of Health.

Since moving to the NIH, his research has focused across broad areas of human genetics, including pitch, [7] taste, and stuttering. In 2010, Drayna uncovered the first genetic basis of stuttering in humans. [8] [9] Since the initial discovery, he has expanded the understanding of genetic and neurological causes of human stuttering, including discovering additional genetic correlates of stuttering [10] and creating 'knock-out' stuttering mice. [11] [12] Drayna has also investigated the genetic underpinnings of complex taste traits, including PTC, [13] [14] and also menthol cigarettes. [15]

After 22 years of research at the National Institute on Deafness and Other Communication Disorders, Drayna retired in June 2019. [16] He is currently a member of the board of directors of The Stuttering Foundation of America, [17] and a member of the faculty of the program in neuroscience and cognitive science at the University of Maryland. [18]

Related Research Articles

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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.

<span class="mw-page-title-main">Hereditary haemochromatosis</span> Medical condition

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Speech disorders or speech impairments are a type of communication disorder in which normal speech is disrupted. This can mean fluency disorders like stuttering, cluttering or lisps. Someone who is unable to speak due to a speech disorder is considered mute. Speech skills are vital to social relationships and learning, and delays or disorders that relate to developing these skills can impact individuals function. For many children and adolescents, this can present as issues with academics. Speech disorders affect roughly 11.5% of the US population, and 5% of the primary school population. Speech is a complex process that requires precise timing, nerve and muscle control, and as a result is susceptible to impairments. A person who has a stroke, an accident or birth defect may have speech and language problems.

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Phenylthiocarbamide (PTC), also known as phenylthiourea (PTU), is an organosulfur thiourea containing a phenyl ring.

<span class="mw-page-title-main">Hepatomegaly</span> Medical condition

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<span class="mw-page-title-main">HFE (gene)</span> Mammalian protein found in Homo sapiens

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<span class="mw-page-title-main">TAS2R38</span> Protein-coding gene in the species Homo sapiens

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Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern. The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated that the liver contains iron, and due to bleeding being considered to be the cause, he called the pigment "Haemochromatosis." In 1935, English doctor Sheldon's groundbreaking book titled, Haemochromatosis, reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic disorder. Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin. The iron overload could potentially cause serious disease from the age of 40–50 years. In the final stages of the disease, the major symptoms include liver cirrhosis, diabetes and bronze-colored skin. There are four types of hereditary hemochromatosis which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.

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Helen Donis-Keller is the Michael E. Moody Professor and Professor of Biology and Art at Olin College of Engineering in Needham, Massachusetts.

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Robert Roberts, is a cardiologist, geneticist, academic, and medical researcher.

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References

  1. ↑ "Dennis Drayna, Ph.D." NIDCD. 2015-08-14. Retrieved 2018-06-17.
  2. ↑ Drayna, D.; White, R. (1985-11-15). "The genetic linkage map of the human X chromosome". Science. 230 (4727): 753–758. Bibcode:1985Sci...230..753D. doi:10.1126/science.4059909. ISSN   0036-8075. PMID   4059909.
  3. ↑ Drayna, Dennis; Jarnagin, Alisha Stephens; McLean, John; Henzel, William; Kohr, William; Fielding, Christopher; Lawn, Richard (June 1987). "Cloning and sequencing of human cholesteryl ester transfer protein cDNA". Nature. 327 (6123): 632–634. Bibcode:1987Natur.327..632D. doi:10.1038/327632a0. ISSN   0028-0836. PMID   3600759. S2CID   4283097.
  4. ↑ Chandrasekharan, Subhashini; Pitlick, Emily; Heaney, Christopher; Cook-Deegan, Robert (April 2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing for Hereditary Hemochromatosis". Genetics in Medicine. 12 (4 Suppl): S155–S170. doi:10.1097/GIM.0b013e3181d7acb0. ISSN   1098-3600. PMC   3131230 . PMID   20393306.
  5. ↑ Feder, J. N.; Gnirke, A.; Thomas, W.; Tsuchihashi, Z.; Ruddy, D. A.; Basava, A.; Dormishian, F.; Domingo, R.; Ellis, M. C. (August 1996). "A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis". Nature Genetics. 13 (4): 399–408. doi:10.1038/ng0896-399. ISSN   1061-4036. PMID   8696333. S2CID   26239768.
  6. ↑ Davies, Kevin (2010-09-07). The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. Simon and Schuster. ISBN   9781416570189.
  7. ↑ Drayna, Dennis; Manichaikul, Ani; Lange, Marlies de; Snieder, Harold; Spector, Tim (2001-03-09). "Genetic Correlates of Musical Pitch Recognition in Humans". Science. 291 (5510): 1969–1972. Bibcode:2001Sci...291.1969D. doi:10.1126/science.291.5510.1969. ISSN   0036-8075. PMID   11239158.
  8. ↑ Kang, Changsoo; Riazuddin, Sheikh; Mundorff, Jennifer; Krasnewich, Donna; Friedman, Penelope; Mullikin, James C.; Drayna, Dennis (2010-02-25). "Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering". New England Journal of Medicine. 362 (8): 677–685. doi:10.1056/nejmoa0902630. ISSN   0028-4793. PMC   2936507 . PMID   20147709.
  9. ↑ "Researchers Discover First Genes for Stuttering". National Institutes of Health (NIH). 2015-08-12. Retrieved 2018-06-17.
  10. ↑ Frigerio-Domingues, Carlos; Drayna, Dennis (2017-02-19). "Genetic contributions to stuttering: the current evidence". Molecular Genetics & Genomic Medicine. 5 (2): 95–102. doi:10.1002/mgg3.276. ISSN   2324-9269. PMC   5370225 . PMID   28361094.
  11. ↑ Barnes, Terra D.; Wozniak, David F.; Gutierrez, Joanne; Han, Tae-Un; Drayna, Dennis; Holy, Timothy E. (April 2016). "A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations". Current Biology. 26 (8): 1009–1018. doi:10.1016/j.cub.2016.02.068. ISSN   0960-9822. PMC   5063665 . PMID   27151663.
  12. ↑ "Mice with genetic defect for human stuttering offer new insight into speech disorder | Washington University School of Medicine in St. Louis". Washington University School of Medicine in St. Louis. 2016-04-14. Retrieved 2018-06-17.
  13. ↑ Kim, Un-kyung; Jorgenson, Eric; Coon, Hilary; Leppert, Mark; Risch, Neil; Drayna, Dennis (2003-02-21). "Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide". Science. 299 (5610): 1221–1225. Bibcode:2003Sci...299.1221K. doi:10.1126/science.1080190. ISSN   0036-8075. PMID   12595690. S2CID   30553230.
  14. ↑ "Scientist Finds The Gene That Determines Major Sensitivity to Bitter Taste". NIDCD. 2015-08-18. Retrieved 2018-06-17.
  15. ↑ Risso, Davide; Sainz, Eduardo; Gutierrez, Joanne; Kirchner, Thomas; Niaura, Raymond; Drayna, Dennis (2017-04-01). "Association of TAS2R38 Haplotypes and Menthol Cigarette Preference in an African American Cohort". Nicotine & Tobacco Research. 19 (4): 493–494. doi:10.1093/ntr/ntw275. ISSN   1462-2203. PMC   5896488 . PMID   27733510.
  16. ↑ "NIDCD's Drayna Retires, Will Serve as Scientist Emeritus". NIH Record. July 26, 2019. Retrieved February 6, 2024.
  17. ↑ "Meet Board Member Dennis Drayna". Stuttering Foundation: A Nonprofit Organization Helping Those Who Stutter. Retrieved 2018-06-17.
  18. ↑ "Dennis Drayna | NACS l Neuroscience and Cognitive Science l University of Maryland". nacs.umd.edu. Retrieved 2018-06-17.
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