igforum.bio / scientists-gain-ground-on-rare-neurological-disorder - 183662
B
%Begin Scientists Gain Ground on Rare Neurological Disorder Skip to main content Close Select your preferred language English عربى 简体中文 繁體中文 فارسي עִברִית 日本語 한국어 Русский Español Tagalog Menu Close Call 1-800-CEDARS-1 toggle search form Close Los Angeles, 20 May 2022 09:00 AM America/Los_Angeles Scientists Gain Ground on Rare Congenital Neurological Disorder Cedars-Sinai researchers identified a gene therapy that can potentially help prevent or reduce the devastating neurological symptoms in patients diagnosed with Allan-Herndon-Dudley syndrome. Photo by Cedars-Sinai.
Brandon Kumar Member
access_time 3 minutes ago
%Begin Scientists Gain Ground on Rare Neurological Disorder Skip to main content Close Select your preferred language English عربى 简体中文 繁體中文 فارسي עִברִית 日本語 한국어 Русский Español Tagalog Menu Close Call 1-800-CEDARS-1 toggle search form Close Los Angeles, 20 May 2022 09:00 AM America/Los_Angeles Scientists Gain Ground on Rare Congenital Neurological Disorder Cedars-Sinai researchers identified a gene therapy that can potentially help prevent or reduce the devastating neurological symptoms in patients diagnosed with Allan-Herndon-Dudley syndrome. Photo by Cedars-Sinai.
thumb_up Like (29)
comment Reply (3)
share Share
visibility 480 views
thumb_up 29 likes
comment 3 replies
S
Sofia Garcia 1 minutes ago
Photo by Cedars-Sinai Two Preclinical Studies Identify Possible New Therapies for Patients With Al...
C
Chloe Santos 3 minutes ago
This process is critical for human brain development and function. A breakdown in the process can le...
Show 1 more replies
I
Photo by Cedars-Sinai Two Preclinical Studies Identify Possible New Therapies for Patients With Allan-Herndon-Dudley Syndrome Including a Gene Therapy and Repurposing of a Common Drug Two recent discoveries co-led by scientists at Cedars-Sinai may help lead to new ways to treat patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement.    In the first study, published in the peer-reviewed journal Thyroid, scientists at Cedars-Sinai and at the University of Chicago identified a gene therapy that can potentially help prevent or reduce the devastating neurological symptoms in patients diagnosed with AHDS. “There currently are no successful therapies for treating the neurological symptoms that occur as a result of this condition,” said co-corresponding author Clive Svendsen, PhD, professor of Biomedical Sciences and Medicine and executive director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute. “However, we’re finding gene therapies to be a promising new way to treat developmental neurological disorders, like AHDS.” The disorder, typically diagnosed in childhood and only in males, is caused by a mutation in a thyroid hormone "transporter" known as MCT8, that is tasked with carrying thyroid hormones across the blood-brain barrier and into brain cells.
Isabella Johnson Member
access_time 6 minutes ago
Photo by Cedars-Sinai Two Preclinical Studies Identify Possible New Therapies for Patients With Allan-Herndon-Dudley Syndrome Including a Gene Therapy and Repurposing of a Common Drug Two recent discoveries co-led by scientists at Cedars-Sinai may help lead to new ways to treat patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement.    In the first study, published in the peer-reviewed journal Thyroid, scientists at Cedars-Sinai and at the University of Chicago identified a gene therapy that can potentially help prevent or reduce the devastating neurological symptoms in patients diagnosed with AHDS. “There currently are no successful therapies for treating the neurological symptoms that occur as a result of this condition,” said co-corresponding author Clive Svendsen, PhD, professor of Biomedical Sciences and Medicine and executive director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute. “However, we’re finding gene therapies to be a promising new way to treat developmental neurological disorders, like AHDS.” The disorder, typically diagnosed in childhood and only in males, is caused by a mutation in a thyroid hormone "transporter" known as MCT8, that is tasked with carrying thyroid hormones across the blood-brain barrier and into brain cells.
thumb_up Like (41)
comment Reply (0)
thumb_up 41 likes
J
This process is critical for human brain development and function. A breakdown in the process can lead to serious intellectual disability and problems with speech and movement. Most affected children do not walk or talk.    To counteract this issue, investigators tested the potential of a viral gene therapy, AAV9-MCT8, to determine whether it could correct brain defects in mice that carry the mutation and possess symptoms of the disease.
James Smith Moderator
access_time 15 minutes ago
This process is critical for human brain development and function. A breakdown in the process can lead to serious intellectual disability and problems with speech and movement. Most affected children do not walk or talk.    To counteract this issue, investigators tested the potential of a viral gene therapy, AAV9-MCT8, to determine whether it could correct brain defects in mice that carry the mutation and possess symptoms of the disease.
thumb_up Like (19)
comment Reply (1)
thumb_up 19 likes
comment 1 replies
E
Elijah Patel 1 minutes ago
The AAV9 vector acts as a carrier that helps deliver genetic material, like MCT8, into cells.&nb...
J
The AAV9 vector acts as a carrier that helps deliver genetic material, like MCT8, into cells.  “We thought we might be able to get the transporter back with an AAV9 vector by genetically modifying it so it will produce the protein MCT8,” said Svendsen, who is also the Kerry and Simone Vickar Family Foundation Distinguished Chair in Regenerative Medicine. Once the vector was encoded with MCT8, the team infused it into the bloodstream of both newborn and young male mice.
Julia Zhang Member
access_time 4 minutes ago
The AAV9 vector acts as a carrier that helps deliver genetic material, like MCT8, into cells.  “We thought we might be able to get the transporter back with an AAV9 vector by genetically modifying it so it will produce the protein MCT8,” said Svendsen, who is also the Kerry and Simone Vickar Family Foundation Distinguished Chair in Regenerative Medicine. Once the vector was encoded with MCT8, the team infused it into the bloodstream of both newborn and young male mice.
thumb_up Like (50)
comment Reply (3)
thumb_up 50 likes
comment 3 replies
L
Luna Park 3 minutes ago
“While earlier work showed expression of the MCT8 protein in brains of newborn mice, it was uncert...
A
Ava White 2 minutes ago
In fact, the mice showed an improvement in their learning curve, suggesting that the treatment has b...
Show 1 more replies
D
“While earlier work showed expression of the MCT8 protein in brains of newborn mice, it was uncertain whether this will also happen when given to young male mice, at a time similar to when most children are diagnosed with the disease,” said co-corresponding author Samuel Refetoff, MD, the Frederick H. Rawson professor of Medicine, a professor of Pediatrics, Committee on Genetics and director of the Endocrinology Laboratory at the University of Chicago.
Dylan Patel Member
access_time 15 minutes ago
“While earlier work showed expression of the MCT8 protein in brains of newborn mice, it was uncertain whether this will also happen when given to young male mice, at a time similar to when most children are diagnosed with the disease,” said co-corresponding author Samuel Refetoff, MD, the Frederick H. Rawson professor of Medicine, a professor of Pediatrics, Committee on Genetics and director of the Endocrinology Laboratory at the University of Chicago.
thumb_up Like (35)
comment Reply (2)
thumb_up 35 likes
comment 2 replies
S
Sebastian Silva 2 minutes ago
In fact, the mice showed an improvement in their learning curve, suggesting that the treatment has b...
D
Daniel Kumar 14 minutes ago
“This study helps pave the way for promising treatments that could alleviate the neurological symp...
S
In fact, the mice showed an improvement in their learning curve, suggesting that the treatment has beneficial effects on cognitive and motor functions. “The ability of this gene therapy approach to impact disease progression in this mouse model is important proof of concept to move this therapy to humans,” said Gad Vatine, PhD, a former postdoctoral researcher in the Svendsen lab who is now at Ben-Gurion University in Israel and also a co-corresponding author of the study.
Sophie Martin Member
access_time 30 minutes ago
In fact, the mice showed an improvement in their learning curve, suggesting that the treatment has beneficial effects on cognitive and motor functions. “The ability of this gene therapy approach to impact disease progression in this mouse model is important proof of concept to move this therapy to humans,” said Gad Vatine, PhD, a former postdoctoral researcher in the Svendsen lab who is now at Ben-Gurion University in Israel and also a co-corresponding author of the study.
thumb_up Like (50)
comment Reply (2)
thumb_up 50 likes
comment 2 replies
S
Sebastian Silva 27 minutes ago
“This study helps pave the way for promising treatments that could alleviate the neurological symp...
S
Sebastian Silva 10 minutes ago
Using cells from patients with AHDS, the team was able to model patients' neurons and the blood...
I
“This study helps pave the way for promising treatments that could alleviate the neurological symptoms in AHDS patients.” Repurposing of a Common Drug&nbsp The second study, also published in Thyroid, was a collaborative project led by scientists at the Institut fur Biochemie und Molekularbiologie in Germany. The investigators previously found that the drug sodium phenylbutyrate could help restore MCT8 function in mice with MCT8 deficiency, but they wanted to expand on the work and determine whether the drug could potentially work in humans. Cedars-Sinai scientists already created a human cell model of AHDS using induced pluripotent stem cells (iPSC), a special kind of stem cell that can produce any type of cell in the body using an individual’s blood sample.
Isaac Schmidt Member
access_time 7 minutes ago
“This study helps pave the way for promising treatments that could alleviate the neurological symptoms in AHDS patients.” Repurposing of a Common Drug&nbsp The second study, also published in Thyroid, was a collaborative project led by scientists at the Institut fur Biochemie und Molekularbiologie in Germany. The investigators previously found that the drug sodium phenylbutyrate could help restore MCT8 function in mice with MCT8 deficiency, but they wanted to expand on the work and determine whether the drug could potentially work in humans. Cedars-Sinai scientists already created a human cell model of AHDS using induced pluripotent stem cells (iPSC), a special kind of stem cell that can produce any type of cell in the body using an individual’s blood sample.
thumb_up Like (46)
comment Reply (0)
thumb_up 46 likes
E
Using cells from patients with AHDS, the team was able to model patients' neurons and the blood-brain barrier in a laboratory dish. The team in Germany then used this model to test if the drug could also correct MCT8 in human-derived cells. The investigators found that the drug was able to activate MCT8 and restore the thyroid hormone transport function by stabilizing the MCT8 expression and activating additional thyroid hormone transporters.
Emma Wilson Admin
access_time 32 minutes ago
Using cells from patients with AHDS, the team was able to model patients' neurons and the blood-brain barrier in a laboratory dish. The team in Germany then used this model to test if the drug could also correct MCT8 in human-derived cells. The investigators found that the drug was able to activate MCT8 and restore the thyroid hormone transport function by stabilizing the MCT8 expression and activating additional thyroid hormone transporters.
thumb_up Like (12)
comment Reply (0)
thumb_up 12 likes
E
“We now have two exciting breakthroughs for treating MCT8 deficiencies that might really have an impact on the disease,” Svendsen said.  Both options call for future clinical studies to investigate these treatments in patients with AHDS. Funding: Research reported in this publication was supported by grants from the Sherman Family Foundation, the Board of Governors Regenerative Medicine Institute at Cedars-Sinai, the Israel Science Foundation, the Ministry of Science and Technology and in part by the National Institutes of Health under award number DK15070. Read more on the Cedars-Sinai Blog: Treating Diseases with Stem Cells Follow Cedars-Sinai Academic Medicine on Twitter for more on the latest basic science and clinical research from Cedars-Sinai.  Related Stories RSS feed - Related Stories (opens in new window) View all headlines - Related Stories Fine-Tuning Organ-Chip Technology October 07, 2022 07:03 AM America/Los_Angeles A new method developed by scientists at Cedars-Sinai makes it easier to visualize the cell populations in organ chips, the technology that recapitulates true-to-life biology outside the body.Induced pluripotent stem cell and organ-chip technologies … Read more Stem Cell-Gene Therapy Shows Promise in ALS Safety Trial September 05, 2022 08:00 AM America/Los_Angeles Cedars-Sinai investigators have developed an investigational therapy using support cells and a protective protein that can be delivered past the blood-brain barrier.
Elijah Patel Member
access_time 36 minutes ago
“We now have two exciting breakthroughs for treating MCT8 deficiencies that might really have an impact on the disease,” Svendsen said.  Both options call for future clinical studies to investigate these treatments in patients with AHDS. Funding: Research reported in this publication was supported by grants from the Sherman Family Foundation, the Board of Governors Regenerative Medicine Institute at Cedars-Sinai, the Israel Science Foundation, the Ministry of Science and Technology and in part by the National Institutes of Health under award number DK15070. Read more on the Cedars-Sinai Blog: Treating Diseases with Stem Cells Follow Cedars-Sinai Academic Medicine on Twitter for more on the latest basic science and clinical research from Cedars-Sinai.  Related Stories RSS feed - Related Stories (opens in new window) View all headlines - Related Stories Fine-Tuning Organ-Chip Technology October 07, 2022 07:03 AM America/Los_Angeles A new method developed by scientists at Cedars-Sinai makes it easier to visualize the cell populations in organ chips, the technology that recapitulates true-to-life biology outside the body.Induced pluripotent stem cell and organ-chip technologies … Read more Stem Cell-Gene Therapy Shows Promise in ALS Safety Trial September 05, 2022 08:00 AM America/Los_Angeles Cedars-Sinai investigators have developed an investigational therapy using support cells and a protective protein that can be delivered past the blood-brain barrier.
thumb_up Like (39)
comment Reply (0)
thumb_up 39 likes
E
This combined stem cell and gene therapy can potentially protect diseased motor … Read more A Survivor s Guide to Brain Cancer August 29, 2022 06:05 AM America/Los_Angeles Sheri Saenz is enjoying everyday pleasures as a Laguna Niguel grandmother, crafting and camping with her granddaughter and grandson and vacationing with her husband of 34 years.But 30 years ago, in 1992, Saenz received a brain cancer diagnosis that … Read more Show previous items Show next items Contact the Media Team Email: newsroom@cshs.org Contact Denise HeadyManager, Science Communications denise.heady@cshs.org 626‐378‐8184 Share this release Scientists Gain Ground on Rare Congenital Neurological Disorder Share on: Twitter Share on: Facebook Share on: LinkedIn Search Our Newsroom Social media Visit our Facebook page (opens in new window) Follow us on Twitter (opens in new window) Visit our Youtube profile (opens in new window) (opens in new window) Latest news 07 Oct 2022 - HealthDay: Black Women Less Likely to Get Laparoscopic Fibroid Surgeries 07 Oct 2022 - Faculty Publications: Sept. 29-Oct.
Emma Wilson Admin
access_time 10 minutes ago
This combined stem cell and gene therapy can potentially protect diseased motor … Read more A Survivor s Guide to Brain Cancer August 29, 2022 06:05 AM America/Los_Angeles Sheri Saenz is enjoying everyday pleasures as a Laguna Niguel grandmother, crafting and camping with her granddaughter and grandson and vacationing with her husband of 34 years.But 30 years ago, in 1992, Saenz received a brain cancer diagnosis that … Read more Show previous items Show next items Contact the Media Team Email: [email protected] Contact Denise HeadyManager, Science Communications denise.heady@cshs.org 626‐378‐8184 Share this release Scientists Gain Ground on Rare Congenital Neurological Disorder Share on: Twitter Share on: Facebook Share on: LinkedIn Search Our Newsroom Social media Visit our Facebook page (opens in new window) Follow us on Twitter (opens in new window) Visit our Youtube profile (opens in new window) (opens in new window) Latest news 07 Oct 2022 - HealthDay: Black Women Less Likely to Get Laparoscopic Fibroid Surgeries 07 Oct 2022 - Faculty Publications: Sept. 29-Oct.
thumb_up Like (35)
comment Reply (2)
thumb_up 35 likes
comment 2 replies
L
Liam Wilson 5 minutes ago
6 07 Oct 2022 - Fine-Tuning Organ-Chip Technology 06 Oct 2022 - KCRW: Want New Omicron Booster? Wait...
J
Jack Thompson 5 minutes ago
Scientists Gain Ground on Rare Neurological Disorder Skip to main content Close Select your prefer...
G
6 07 Oct 2022 - Fine-Tuning Organ-Chip Technology 06 Oct 2022 - KCRW: Want New Omicron Booster? Wait at Least 2 Months After Last Shot 05 Oct 2022 - Cedars-Sinai Schedules Free Flu Vaccine Clinics 04 Oct 2022 - Cedars-Sinai Showcases Hispanic and Latinx Art Newsroom Home
Grace Liu Member
access_time 11 minutes ago
6 07 Oct 2022 - Fine-Tuning Organ-Chip Technology 06 Oct 2022 - KCRW: Want New Omicron Booster? Wait at Least 2 Months After Last Shot 05 Oct 2022 - Cedars-Sinai Schedules Free Flu Vaccine Clinics 04 Oct 2022 - Cedars-Sinai Showcases Hispanic and Latinx Art Newsroom Home
thumb_up Like (12)
comment Reply (0)
thumb_up 12 likes

Write a Reply

Similar Discussions