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Consider Enrollment in the iNTD

October 31, 2018

We are close to the beginning of an NIH-funded study that will carry out a 5-year Natural History of SSADH (succinic semialdehyde dehydrogenase deficiency). This study will include clinical data (imaging, electrophysiology, neuropsychiatric evaluation, etc) and biomarker data (blood, urine, CSF, saliva, DNA, etc). Primary intake site for patients in…

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Requesting Newborn Screen Dried Blood Spots

October 11, 2018

We are working on a way to easily test for SSADH from a dried bloodspot, but need some original Dried Bloodspot Cards used for Newborn Screening from SSADH patients within the United States. Each state has their own regulations for preserving the bloodspots. Usually the information is posted on the…

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SSADH Awarded Grant for Natural History Study

April 10, 2018

I want to thank you again for your letters of support for this NIH grant application submitted by Drs. Jean-Baptiste Roullet and Mike Gibson (Washington State University) and his colleagues, Dr. Phillip Pearl, (Boston Children’s Hospital), Dr. Thomas Opladen (University Children’s Hospital, Heidelberg, Germany), Dr. Jeff Krischer (University of South…

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$12,000 was awarded to Ritva Tikkanen, MD, PhD

April 10, 2018

$12,000 was awarded to Ritva Tikkanen, MD, PhD from Justus-Liebig Universität Gießen, Germany to create molecular consequences of SSADH mutations allowing for mutation specific therapies.  Dr. Tikkanen will be using the SSADH stem cell lines created at Boston Children’s Hospital and Harvard Medical School. Dr. Tikkann and her team will…

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SSADHD Backup Mice Colony

April 10, 2018

$10,000 was awarded to JEX Services to maintain a Backup Mice Colony to the current colony that exists and is in used for research at Washington State University. The backup colony will ensure the availability of SSADH Mice should something happen to the existing colony, preventing any possible lapse in…

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$125,000 was awarded to Phillip Pearl, MD and Mustafa Sahin MD, PhD

April 10, 2018

$125,000 was awarded to Phillip Pearl, MD & Mustafa Sahin MD, PhD at Boston Children’s Hospital and Harvard Medical School.  Our award was matched by an anonymous $175,000 donation on behalf of the Boston Children’s Hospital Trust. This project will be a continuation of our initial funding from 2015 to…

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