Project Report
| Nov 18, 2019
Kleefstra Syndrome Research Update (Nov 2019)
By Hira Verma | Chairman & CEO
We want to begin our quarterly update by once again expressing our gratitude for your continued support in our efforts to advance drug treatments for those impacted by Kleefstra Syndrome. Our progress to date would not be possible without you. To learn more, see below for an update on our efforts that past GlobalGiving donations have supported thus far.
Research Project: Screening Potential Drugs To Upregulate EHMT1 (Kleefstra Syndrome Gene)
The aim is to develop an assay for screening chemical compounds/drugs, specifically looking for those that increase the production of the EHMT1 protein (which is insufficiently produced in Kleefstra Syndrome patients). Why might this overall approach work? Like all humans, Kleefstra Syndrome patients are supposed to have two healthy copies of EHMT1. However, these patients' gene mutations or deletions result in one copy being deficient. In identifying drugs that can successfully interact with and stimulate increased production of EHMT1, we may be able to produce enough of the protein to compensate for the deficiency. This approach is known as “upregulation” and has proven successful in other diseases with similar challenges. Once our assay is finalized, we plan to screen approximately 9,000 thousand compounds/drugs, including the vast majority of FDA-approved drugs; FDA-approved drugs have already passed many hurdles and early success with such drugs may result in tremendous time and cost savings. This project continues to be a high priority, with an expected completion now around mid-2020. The goal of the project remains identifying a potential drug candidate for testing on human Kleefstra Syndrome patients.
Links:
![Share on Twitter]()
![Share on Facebook]()
Aug 19, 2019
Kleefstra Syndrome Research Update (Aug 2019)
By Hira Verma | Chairman & CEO
We want to begin our quarterly update by once again expressing our gratitude for your continued support in our efforts to advance drug treatments for those impacted by Kleefstra Syndrome. Our progress to date would not be possible without you. To learn more, see below for an update on our efforts that past GlobalGiving donations have supported thus far.
Research Project: Screening Potential Drugs To Upregulate EHMT1 (Kleefstra Syndrome Gene)
The aim is to develop an assay for screening chemical compounds/drugs, specifically looking for those that increase the production of the EHMT1 protein (which is insufficiently produced in Kleefstra Syndrome patients). Why might this overall approach work? Like all humans, Kleefstra Syndrome patients are supposed to have two healthy copies of EHMT1. However, these patients’ gene mutations or deletions result in one copy being deficient. In identifying drugs that can successfully interact with and stimulate increased production of EHMT1, we may be able to produce enough of the protein to compensate for the deficiency. This approach is known as “upregulation” and has proven successful in other diseases with similar challenges. Once our assay is finalized, we plan to screen thousands of compounds/drugs, including many of the FDA-approved drugs; FDA-approved drugs have already passed many hurdles and early success with such drugs may result in tremendous time and cost savings. This project continues to be a high priority, with important screening data continued to be expected in late 2019 / early 2020. The goal of the project remains identifying a potential drug candidate for testing on human Kleefstra Syndrome patients.
Links:
![Share on Twitter]()
![Share on Facebook]()
May 29, 2019
Kleefstra Syndrome Research Update (May 2019)
By Hira Verma | Chair, President & Secretary
We want to begin our quarterly update by once again expressing our gratitude for your continued support in our efforts to advance drug treatments for those impacted by Kleefstra Syndrome. Our progress to date would not be possible without you. To learn more, see below for an update on our efforts that past GlobalGiving donations have supported thus far.
Research Project: Screening Potential Drugs To Upregulate EHMT1 (Kleefstra Syndrome Gene)
The aim is to develop an assay for screening chemical compounds/drugs, specifically looking for those that increase the production of the EHMT1 protein (which is insufficiently produced in Kleefstra Syndrome patients). Why might this overall approach work? Like all humans, Kleefstra Syndrome patients are supposed to have two healthy copies of EHMT1. However, these patients’ gene mutations or deletions result in one copy being deficient. In identifying drugs that can successfully interact with and stimulate increased production of EHMT1, we may be able to produce enough of the protein to compensate for the deficiency. This approach is known as “upregulation” and has proven successful in other diseases with similar challenges. Once our assay is finalized, we plan to screen thousands of compounds/drugs, including many of the FDA-approved drugs; FDA-approved drugs have already passed many hurdles and early success with such drugs may result in tremendous time and cost savings. This project continues to be a high priority, with important screening data continued to be expected in late 2019. The goal of the project remains identifying a potential drug candidate for testing on human Kleefstra Syndrome patients.
Links:
![Share on Twitter]()
![Share on Facebook]()
