Patents
US 8568980 B2: Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia
- Granted
- 2013-10-29
- Filed
- 2010-01-27 application 12694908
- Type
- Utility · 6 claims
- Elsewhere
- Google Patents ↗ · USPTO patent document ↗ · USPTO Patent Center record ↗
Abstract
The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.
Source: PVGPATDIS, file of 2026-04-10 (ipg131029.xml).
Assignees
| Assignee | Type | Place | Also on furp.org | Source |
|---|---|---|---|---|
| Mount Sinai School of Medicine 31 patents | US company or organization | New York, NY | PVGPATDIS, file of 2026-04-10 | |
| Beth Israel Medical Center 2 patents | US company or organization | New York, NY | Mount Sinai Phillips School of Nursing College or university EXACT high confidence: through the nonprofit with the college's EIN (identical full name and state) BETH ISRAEL MEDICAL CENTER Nonprofit EXACT high confidence: identical full name and state | PVGPATDIS, file of 2026-04-10 |
Inventors
| Inventor | Place | Patents | Person page | Source |
|---|---|---|---|---|
| Laurie Ozelius | White Plains, NY | 5 | PVGPATDIS, file of 2026-04-10 | |
| Susan Bressman | Englewood, NJ | 5 | PVGPATDIS, file of 2026-04-10 |
CPC categories
| Subclass | Category | First group | Source |
|---|---|---|---|
| C12Q | Measuring or testing processes involving enzymes, nucleic acids or microorganisms ; compositions or test papers therefor; processes of preparing such compositions; condition-responsive control in microbiological or enzymological processes | C12Q1/6883 | PVGPATDIS, file of 2026-04-10 |
| C07K | Peptides | C07K14/47 | PVGPATDIS, file of 2026-04-10 |
Cooperative Patent Classification, as currently assigned (one row per subclass).
Assignments and security interests
| Recorded | What | From | To | Reel/frame | Source |
|---|---|---|---|---|---|
| 2016-07-07 | Government interest Confirmatory license | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI signed 2016-05-03 | NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT BETHESDA, MD | 39276/395 | ECORSEXC, file of 2026-09-25 |
| 2012-02-15 | Assignment Assignor mount sinai school of medicine assigns fifty percent (50%) interest in and to u.s. serial number 12/694,908 to assignee beth israel medical center and assignee mount sinai school of medicine. | MOUNT SINAI SCHOOL OF MEDICINE signed 2012-02-13 | BETH ISRAEL MEDICAL CENTER NEW YORK, NY MOUNT SINAI SCHOOL OF MEDICINE NEW YORK, NY | 27712/755 | ECORSEXC, file of 2026-09-25 |
| 2011-02-13 | Name change Change of name | MOUNT SINAI SCHOOL OF MEDICINE OF NEW YORK UNIVERSITY signed 2010-11-18 | MOUNT SINAI SCHOOL OF MEDICINE NEW YORK, NY | 25800/44 | ECORSEXC, file of 2026-09-25 |
| 2010-10-15 | Assignment Assignment of assignor's interest | BRESSMAN, SUSAN signed 2010-09-23 OZELIUS, LAURIE signed 2010-09-23 | MOUNT SINAI SCHOOL OF MEDICINE OF NEW YORK UNIVERSITY NEW YORK, NY | 25147/96 | ECORSEXC, file of 2026-09-25 |
Documents recorded with the USPTO Assignment Recordation Branch that list this patent. A security interest is a lender’s claim on the patent as collateral; a release ends it.
USPTO bulk data: PatentsView granted patents, disambiguated (PVGPATDIS) for patents, assignees, inventors, places and CPC categories; the USPTO Patent Assignment Dataset (ECORSEXC) for assignments and security interests. Patents filed in the last 20 years. No claims or full text. Links to other records are by name (and state): EXACT means the identical full name and state; FUZZY means a looser name match, with the confidence shown.