MECP2 duplication syndrome

U.S. FDA AWARDS BOTH RARE PEDIATRIC DISEASE AND ORPHAN DRUG DESIGNATIONS TO HG204, A CRISPR RNA-EDITING THERAPY, FOR THE TREATMENT OF MECP2 DUPLICATION SYNDROME

Retrieved on: 
Tuesday, October 31, 2023

"Although there is currently no clinical trial evaluating MDS, this is a sign of recognition for MDS and raises hopes for children and teens with this fatal, devastating disorder.

Key Points: 
  • "Although there is currently no clinical trial evaluating MDS, this is a sign of recognition for MDS and raises hopes for children and teens with this fatal, devastating disorder.
  • The FDA defines rare pediatric diseases as rare diseases (with fewer than 200,000 cases in the United States) that are serious or life threatening and primarily affect individuals aged under 18.
  • When the FDA awards rare pediatric disease designation (RPDD), the Sponsor of the trial firstly is granted a 6-months accelerated review of the drug candidate irrespective of indication, and which may be sold to another company.
  • "MDS is a rare and fatal childhood disease with the progressive of neurological regression such as loss of motor skills and speech.

U.S. FDA AWARDS BOTH RARE PEDIATRIC DISEASE AND ORPHAN DRUG DESIGNATIONS TO HG204, A CRISPR RNA-EDITING THERAPY, FOR THE TREATMENT OF MECP2 DUPLICATION SYNDROME

Retrieved on: 
Tuesday, October 31, 2023

"Although there is currently no clinical trial evaluating MDS, this is a sign of recognition for MDS and raises hopes for children and teens with this fatal, devastating disorder.

Key Points: 
  • "Although there is currently no clinical trial evaluating MDS, this is a sign of recognition for MDS and raises hopes for children and teens with this fatal, devastating disorder.
  • The FDA defines rare pediatric diseases as rare diseases (with fewer than 200,000 cases in the United States) that are serious or life threatening and primarily affect individuals aged under 18.
  • When the FDA awards rare pediatric disease designation (RPDD), the Sponsor of the trial firstly is granted a 6-months accelerated review of the drug candidate irrespective of indication, and which may be sold to another company.
  • "MDS is a rare and fatal childhood disease with the progressive of neurological regression such as loss of motor skills and speech.

Bionano Announces Presentation of OGM Utility Across Key Applications at the American Society of Human Genetics (ASHG) Annual Meeting

Retrieved on: 
Thursday, October 26, 2023

ASHG’s annual meeting brings together industry, medical, and academic professionals to discuss advances in clinical genomics and genetics research.

Key Points: 
  • ASHG’s annual meeting brings together industry, medical, and academic professionals to discuss advances in clinical genomics and genetics research.
  • Dr. Levy will present findings from the largest multisite study to date comparing OGM to classical cytogenetic methods for postnatal constitutional disorder research.
  • Dr. Stevenson will discuss his research using OGM for the analysis of neural tube defects.
  • In addition, 12 posters featuring results from OGM applications in cytogenetic research will be presented at the conference.

Dr. Huda Zoghbi Reveals New Research Into the Mechanisms Driving Rett Syndrome at the 2023 World Congress of Neurology

Retrieved on: 
Wednesday, October 18, 2023

Dr. Zoghbi's groundbreaking research not only enhances our understanding of Rett syndrome but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorders.

Key Points: 
  • Dr. Zoghbi's groundbreaking research not only enhances our understanding of Rett syndrome but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorders.
  • Her research also pinpointed the specific neurons and circuit abnormalities that mediate the various symptoms of Rett syndrome.
  • Moreover, this breakthrough research has far-reaching implications, not only for Rett syndrome but for a broader spectrum of neuropsychiatric disorders.
  • Visit wcn-neurology.com to learn more about Dr. Zoghbi and all the featured research at this year's WCN.

Dr. Huda Zoghbi Reveals New Research Into the Mechanisms Driving Rett Syndrome at the 2023 World Congress of Neurology

Retrieved on: 
Wednesday, October 18, 2023

Dr. Zoghbi's groundbreaking research not only enhances our understanding of Rett syndrome but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorders.

Key Points: 
  • Dr. Zoghbi's groundbreaking research not only enhances our understanding of Rett syndrome but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorders.
  • Her research also pinpointed the specific neurons and circuit abnormalities that mediate the various symptoms of Rett syndrome.
  • Moreover, this breakthrough research has far-reaching implications, not only for Rett syndrome but for a broader spectrum of neuropsychiatric disorders.
  • Visit wcn-neurology.com to learn more about Dr. Zoghbi and all the featured research at this year's WCN.

The Rett Syndrome Research Trust Funds Herophilus’ Rett Syndrome Lead Candidate Studies

Retrieved on: 
Thursday, January 26, 2023

Herophilus announced today that in vivo studies underway of its lead candidate HRP-12975 are funded in part by the Rett Syndrome Research Trust (RSRT).

Key Points: 
  • Herophilus announced today that in vivo studies underway of its lead candidate HRP-12975 are funded in part by the Rett Syndrome Research Trust (RSRT).
  • HRP-12975 is the first small molecule therapy for Rett Syndrome with the potential to reverse the root cause of the disease, MECP2 deficiency.
  • With the support of RSRT, Herophilus is now generating efficacy and safety data of HRP-12975 using genetic mouse models of Rett Syndrome.
  • Reactivation of the silent MECP2 gene is an important therapeutic strategy for us and we are encouraged by Herophilus’ progress,” said Monica Coenraads, CEO of the Rett Syndrome Research Trust.

FAST, ASF, Dup15q and FPWR Unite to Fund Newborn Screening Grant

Retrieved on: 
Tuesday, November 2, 2021

Led by RTI International, Early Check will support the infrastructure necessary to add Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome to the Newborn Screening Panel.

Key Points: 
  • Led by RTI International, Early Check will support the infrastructure necessary to add Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome to the Newborn Screening Panel.
  • Angelman syndrome, Prader-Willi syndrome and Dup15q are collectively recognized as chromosome 15 (C15) conditions.
  • Angelman syndrome, Prader-Willi syndrome and Dup15q are targets for emerging therapeutics, including promising disease-modifying strategies, that can potentially benefit greatly from early diagnosis.
  • Early Check was developed to create the necessary infrastructure for rare diseases to be included in the Newborn Screening Panel.

Veritas Intercontinental completes its perinatal services offering with the launch of myPrenatalWES, an innovative prenatal diagnostic test

Retrieved on: 
Wednesday, September 29, 2021

MADRID, Sept. 29, 2021 /PRNewswire/ -- Veritas Intercontinental launches myPrenatalWES, a differential prenatal diagnostic test developed for at-risk pregnancies that provides, with a single technique, an analysis of deletions and duplications (CNVs or Copy Number Variants) along with the molecular study of genes related to fetal findings.

Key Points: 
  • - Veritas Intercontinental expands its range of perinatal services with the launch of myPrenatalWES, an innovative prenatal diagnostic test indicated for pregnancies with risk of genetic alteration.
  • - myPrenatalWES technology is a breakthrough because it allows, with a single test, to replace the different techniques used in prenatal diagnosis, shortening the response time, and maximizing the diagnostic yield.
  • -Veritas opened its state-of-the-art genetics laboratory in 2020, offering perinatal services to its global partners.
  • In the absence of findings, a second technique of sequencing of specific genes related to the ultrasound findings is necessary.

Veritas Intercontinental completes its perinatal services offering with the launch of myPrenatalWES, an innovative prenatal diagnostic test

Retrieved on: 
Wednesday, September 29, 2021

MADRID, Sept. 29, 2021 /PRNewswire/ -- Veritas Intercontinental launches myPrenatalWES, a differential prenatal diagnostic test developed for at-risk pregnancies that provides, with a single technique, an analysis of deletions and duplications (CNVs or Copy Number Variants) along with the molecular study of genes related to fetal findings.

Key Points: 
  • - Veritas Intercontinental expands its range of perinatal services with the launch of myPrenatalWES, an innovative prenatal diagnostic test indicated for pregnancies with risk of genetic alteration.
  • - myPrenatalWES technology is a breakthrough because it allows, with a single test, to replace the different techniques used in prenatal diagnosis, shortening the response time, and maximizing the diagnostic yield.
  • -Veritas opened its state-of-the-art genetics laboratory in 2020, offering perinatal services to its global partners.
  • In the absence of findings, a second technique of sequencing of specific genes related to the ultrasound findings is necessary.