Methods of diagnosing and treating amyotrophic lateral sclerosis
AssigneePresident and Fellows of Harvard College
InventorsRobin Reed, Shi Chen, Yong Yu, Tomohiro Yamazaki
Life of this patent
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Abstract
The invention features methods of diagnosing a subject as having, or at risk of developing ALS by determining the frequency of Gems in cells obtained from the subject. These methods include diagnosing the severity or monitoring the progression of ALS by determining the Gem frequency in a subject. Also, the invention features methods of identifying compounds useful for the treatment of ALS as well as methods for the treatment of ALS.
Claims30
A method of diagnosing a subject as having, or at risk of developing, ALS, said method comprising obtaining a sample of non-neuronal cells, or progeny thereof, isolated from said subject and determining the frequency of Gems in the isolated cells, or progeny thereof, wherein a decreased frequency of Gems is indicative of the subject having, or being at risk of developing, ALS.
(canceled)
-12. (canceled)
A method of identifying a candidate compound that treats ALS, said method comprising the steps of (a) contacting cells with a candidate compound, (b) comparing the frequency of Gems in the contacted cells with the frequency of Gems in cells not contacted with said candidate compound, and (c) identifying a compound which increases the frequency of Gems in said contacted cells compared to said cells not contacted with said candidate compound;
- wherein an increase in the frequency of Gems is indicative of a compound that treats ALS.
A method of treating ALS in a subject, said method comprising administering to said subject a compound of Table 1, wherein said compound of Table 1 increases the frequency of Gems relative to control in a suitable assay (e.g., using human non-neuronal cells such as fibroblasts).
A method of treating ALS in a subject having a decreased frequency of GemS, said method comprising:
- determining the frequency of Gems in a sample of non-neuronal cells, or progeny thereof, isolated from said subject, and
- administering to said subject a compound of Table 1 or Table 2 if said frequency of GemS is decreased.
-29. (canceled)
A method of diagnosing a subject as having or being at risk for developing ALS, said method comprising obtaining sample from said subject, determining the activity of one or more genes of the SMN complex or U1 snRNP complex in said sample, wherein a decreased activity of one or more genes of the SMN complex or U1 snRNP complex is indicative of a subject having or being at risk for developing ALS.
(canceled)
-38. (canceled)
Dependencies are inferred from the claim text.