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  1. dopa
    amino acid that is formed in the liver and converted into dopamine in the brain
    When the twins were 5, Ms. Beery realized that Alexis, who was more affected, had all the symptoms of an unusual disease, dopa-responsive dystonia.
  2. 5-hydroxytryptamine
    a neurotransmitter involved in e.g. sleep and depression and memory
    The drug is 5-hydroxytryptophan, not 5-hydroxytryptamine.
  3. L-dopa
    the levorotatory form of dopa
    A University of Michigan neurologist gave Alexis L-dopa, a drug used to treat Parkinson’s disease.
  4. beery
    smelling of beer
    Retta and Joe Beery’s twins, born in 1996, were not meeting developmental milestones.
  5. misstate
    state something incorrectly
    This article has been revised to reflect the following correction: Correction: February 20, 2013 An article on Tuesday about the use of DNA sequencing to identify rare genetic diseases misstated the name of a medicine taken by two teenagers who have a rare gene mutation.
  6. geneticist
    a biologist who specializes in heredity
    Even if there is no treatment, there is almost always some benefit to diagnosis, geneticists say.
  7. muscle tone
    normal tonicity of the muscles
    Their muscle tone was so poor that anyone who held them had to support their backs.
  8. Lysol
    a clear oily brown solution of cresols in soap
    “Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program.
  9. neurotransmitter
    a neurochemical that transmits nerve impulses across a synapse
    They discovered that Alexis and Noah had an extremely rare mutation in a gene, SPR, that knocked out synthesis of both dopamine and another neurotransmitter, serotonin.
  10. serotonin
    a neurotransmitter involved in e.g. sleep and depression and memory
    They discovered that Alexis and Noah had an extremely rare mutation in a gene, SPR, that knocked out synthesis of both dopamine and another neurotransmitter, serotonin.
  11. dyslexia
    impaired ability to learn to read
    “This isn’t just some kid with dyslexia,” his mother said, adding: “My son needs someone who literally is holding his hand.
  12. developmental
    of or relating to or constituting development
    Their first child, Jacob, who had a serious genetic disorder, did not babble when he was a year old and had severe developmental delays.
  13. neurologist
    a medical specialist in the nervous system
    “Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program.
  14. sequence
    a following of one thing after another in time
    Scientists sequence all of a patient’s genes, systematically searching for disease-causing mutations.
  15. cerebral palsy
    a loss or deficiency of motor control with involuntary spasms caused by permanent brain damage present at birth
    The Beerys eventually got a diagnosis, cerebral palsy, which turned out to be wrong.
  16. neurological
    of or relating to or used in or practicing neurology
    Desperate to find out what is wrong with Eli, now 8, the Sukins, of The Woodlands, Tex., have become pioneers in a new kind of testing that is proving particularly helpful in diagnosing mysterious neurological illnesses in children.
  17. malformed
    distorted or badly shaped
    Her brain is malformed.
  18. prenatal
    occurring or existing before birth
    So the second time around, Ms. Sukin had what was then the most advanced prenatal testing.
  19. pediatric
    of or relating to the medical care of children
    They can now start the grueling process with DNA sequencing, says Dr. Wendy K. Chung, professor of pediatrics and medicine at Columbia University.
  20. panacea
    hypothetical remedy for all ills or diseases
    Experts caution that gene sequencing is no panacea.
  21. Bale
    a city in northwestern Switzerland
    But Sherri Bale, a medical geneticist and the managing director of GeneDx, the company that did the sequencing, has not given up.
  22. grueling
    characterized by effort to the point of exhaustion
    They can now start the grueling process with DNA sequencing, says Dr. Wendy K. Chung, professor of pediatrics and medicine at Columbia University.
  23. genome
    the full DNA sequence of an organism
    The answer came in August 2010, when Dr. Gibbs, the head of Baylor’s gene sequencing program, and Dr. James R. Lupski, also at Baylor, agreed to sequence the twins’ entire genome as part of a research program.
  24. aberration
    a state or condition markedly different from the norm
    It finds a genetic aberration in only about 25 to 30 percent of cases.
  25. palsy
    loss of the ability to move a body part
    The Beerys eventually got a diagnosis, cerebral palsy, which turned out to be wrong.
Created on 二月 20, 2013

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