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C. Thomas Caskey (1938–2022)

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Tom Caskey speaking at a meeting in 1983

Credit score: H. Parsons

Charles Thomas (Tom) Caskey contributed to many advances in human genetics. He demonstrated the universality of the genetic code; developed one of many earliest functions of DNA fingerprinting in forensic science; was key to the early phases of the Human Genome Challenge (HGP); and helped to provoke customized medication. Enthusiastic, optimistic and terribly beneficiant along with his time and information, Caskey mentored a technology of younger scientists and physicians. He has died aged 83.

Caskey attended the College of South Carolina earlier than getting into Duke College Medical College in Durham, North Carolina. When he certified in 1965, the Vietnam Warfare was ramping up. As required by the ‘Physician Draft’, he joined a choose group of younger physicians, recognized pejoratively (however later honourably) because the Yellow Berets, within the US Public Well being Service. He joined the laboratory of future Nobel laureate Marshall Nirenberg on the Nationwide Institutes of Well being (NIH) in Bethesda, Maryland.

4 years earlier, Nirenberg and Heinrich Matthaei had deciphered the primary codon — the three-nucleotide ‘phrase’ that encodes an amino acid — of the genetic code. Caskey demonstrated the universality of the code by displaying that switch RNAs from micro organism, amphibians and mammals acknowledged the identical codons. Nirenberg wrote: “These outcomes had a profound philosophical impression on me as a result of they point out that each one types of life on this planet use basically the identical language.” Caskey additionally recognized the indicators that inform the cell’s protein-synthesis equipment when to cease translating a messenger RNA.

In 1971, Caskey moved to Houston, Texas, to determine what’s now the Division of Molecular and Human Genetics at Baylor School of Drugs (BCM). His analysis shifted to the gene encoding the enzyme hypoxanthine phosphoribosyl transferase (HPRT), which is mutated within the uncommon neurological dysfunction Lesch–Nyhan syndrome. After the cloning of the primary mammalian genes within the mid-Nineteen Seventies, he spent 1979 with Sydney Brenner on the Laboratory of Molecular Biology in Cambridge, UK, studying to make use of recombinant DNA methods to characterize mutated genes. His many research on the HPRT gene culminated in 1990 within the publication of its full DNA sequence.

At BCM, Caskey created an surroundings that stimulated gene discovery and the event of diagnostic instruments by establishing services for mapping, cloning and sequencing disease-related genes. The successes of the extremely motivated and skilful researchers he recruited, mentored and skilled included figuring out the genes and mutations underlying fragile X syndrome, myotonic dystrophy, Charcot–Marie–Tooth illness and Rett syndrome.

In 1986, Caskey established the Robert J. Kleberg DNA Diagnostics Laboratory at BCM, one of many first DNA diagnostic labs in america. It initially provided prenatal analysis of sickle-cell illness (utilizing allele-specific oligonucleotides) and Duchenne muscular dystrophy (utilizing linkage evaluation), including extra checks as extra genes have been found. Progress in human genetics has been extraordinary, and immediately Baylor Genetics, successor to the Kleberg lab, affords whole-genome sequencing, accomplished in 5 days, as a diagnostic software.

Caskey participated in a number of advisory committees of each the Division of Power and the NIH that evaluated the deserves of a global HGP. He served as president of the Human Genome Group and chair of Genome Canada. He and BCM led by instance. The HPRT gene, which in 1990 was the longest human gene to have been sequenced, was the primary to be learn utilizing an automatic sequencer. The BCM Human Genome Sequencing Middle, based in 1996, finally contributed 10% of the human genome sequence accomplished by the HGP in 2003.

One of many division’s most generally used discoveries happened as a part of the analysis programme on gene mapping. In 1991, Caskey reported that brief tandem repeat sequences present in non-coding areas of the genome, corresponding to TATATATATA or GTCGTCGTCGTCGTC, have been extremely variable from one particular person to a different and might be used for id testing. The check he patented may be instantly linked to a whole bunch of hundreds of thousands of forensic DNA checks carried out since, and was used to establish individuals killed within the Gulf Warfare, in addition to victims of disasters. Atypical growth of repeats causes fragile X syndrome and greater than 60 different genetic issues.

In 1994, Ed Scolnick, a former postdoc of Caskey’s and on the time head of analysis on the pharmaceutical firm Merck, headquartered in Kenilworth, New Jersey, invited him to hitch the corporate. The outcome was the Merck Genome Analysis Institute, which utilized genomic approaches to drug and vaccine growth. Caskey had a powerful entrepreneurial streak: he additionally served as managing director of venture-capital firm Cogene Ventures in Houston, an investor in early-stage life-sciences enterprises primarily based on genomic expertise.

Tom was a beautiful participant in lots of conferences I organized on the Banbury Middle at Chilly Spring Harbor Laboratory in New York. He would ask probing, useful questions in his immediately identifiable Southern drawl. An entertaining companion and a consummate story-teller, Tom, as he admitted, was by no means one to let the reality spoil an excellent story. He was an inveterate traveller and a passionate sailor: eminent scientists sometimes discovered themselves at sea in extreme storms, fearing their imminent demise.

In 1982, Tom closed a Banbury assembly with these phrases: “There’s a new scientific world rising in our research of the genetic character of man and his inherited flaws.” All of us owe Tom an immense debt of gratitude for serving to to carry that new world into being.

Competing Pursuits

The creator declares no competing pursuits.

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