Accessibility Statement Skip Navigation
  • Why PRWeb
  • How It Works
  • Who Uses It
  • Pricing
  • Login
  • GDPR
  • Create a Free Account
Return to PRWeb homepage
  • News
  • Resources
  • Contact
When typing in this field, a list of search results will appear and be automatically updated as you type.

Searching for your content...

No results found. Please change your search terms and try again.
  • News in Focus
      • Browse News Releases

      • All News Releases
      • Multimedia Gallery

      • All Multimedia
      • All Photos
      • All Videos
  • Business & Money
      • Auto & Transportation

      • Aerospace, Defense
      • Air Freight
      • Airlines & Aviation
      • Automotive
      • Maritime & Shipbuilding
      • Railroads and Intermodal Transportation
      • Supply Chain/Logistics
      • Transportation, Trucking & Railroad
      • Travel
      • Trucking and Road Transportation
      • View All Auto & Transportation

      • Business Technology

      • Blockchain
      • Broadcast Tech
      • Computer & Electronics
      • Computer Hardware
      • Computer Software
      • Data Analytics
      • Electronic Commerce
      • Electronic Components
      • Electronic Design Automation
      • Financial Technology
      • High Tech Security
      • Internet Technology
      • Nanotechnology
      • Networks
      • Peripherals
      • Semiconductors
      • View All Business Technology

      • Entertain­ment & Media

      • Advertising
      • Art
      • Books
      • Entertainment
      • Film and Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • View All Entertain­ment & Media

      • Financial Services & Investing

      • Accounting News & Issues
      • Acquisitions, Mergers and Takeovers
      • Banking & Financial Services
      • Bankruptcy
      • Bond & Stock Ratings
      • Conference Call Announcements
      • Contracts
      • Cryptocurrency
      • Dividends
      • Earnings
      • Earnings Forecasts & Projections
      • Financing Agreements
      • Insurance
      • Investments Opinions
      • Joint Ventures
      • Mutual Funds
      • Private Placement
      • Real Estate
      • Restructuring & Recapitalization
      • Sales Reports
      • Shareholder Activism
      • Shareholder Meetings
      • Stock Offering
      • Stock Split
      • Venture Capital
      • View All Financial Services & Investing

      • General Business

      • Awards
      • Commercial Real Estate
      • Corporate Expansion
      • Earnings
      • Environmental, Social and Governance (ESG)
      • Human Resource & Workforce Management
      • Licensing
      • New Products & Services
      • Obituaries
      • Outsourcing Businesses
      • Overseas Real Estate (non-US)
      • Personnel Announcements
      • Real Estate Transactions
      • Residential Real Estate
      • Small Business Services
      • Socially Responsible Investing
      • Surveys, Polls and Research
      • Trade Show News
      • View All General Business

  • Science & Tech
      • Consumer Technology

      • Artificial Intelligence
      • Blockchain
      • Cloud Computing/Internet of Things
      • Computer Electronics
      • Computer Hardware
      • Computer Software
      • Consumer Electronics
      • Cryptocurrency
      • Data Analytics
      • Electronic Commerce
      • Electronic Gaming
      • Financial Technology
      • Mobile Entertainment
      • Multimedia & Internet
      • Peripherals
      • Social Media
      • STEM (Science, Tech, Engineering, Math)
      • Supply Chain/Logistics
      • Wireless Communications
      • View All Consumer Technology

      • Energy & Natural Resources

      • Alternative Energies
      • Chemical
      • Electrical Utilities
      • Gas
      • General Manufacturing
      • Mining
      • Mining & Metals
      • Oil & Energy
      • Oil and Gas Discoveries
      • Utilities
      • Water Utilities
      • View All Energy & Natural Resources

      • Environ­ment

      • Conservation & Recycling
      • Environmental Issues
      • Environmental Policy
      • Environmental Products & Services
      • Green Technology
      • Natural Disasters
      • View All Environ­ment

      • Heavy Industry & Manufacturing

      • Aerospace & Defense
      • Agriculture
      • Chemical
      • Construction & Building
      • General Manufacturing
      • HVAC (Heating, Ventilation and Air-Conditioning)
      • Machinery
      • Machine Tools, Metalworking and Metallurgy
      • Mining
      • Mining & Metals
      • Paper, Forest Products & Containers
      • Precious Metals
      • Textiles
      • Tobacco
      • View All Heavy Industry & Manufacturing

      • Telecomm­unications

      • Carriers and Services
      • Mobile Entertainment
      • Networks
      • Peripherals
      • Telecommunications Equipment
      • Telecommunications Industry
      • VoIP (Voice over Internet Protocol)
      • Wireless Communications
      • View All Telecomm­unications

  • Lifestyle & Health
      • Consumer Products & Retail

      • Animals & Pets
      • Beers, Wines and Spirits
      • Beverages
      • Bridal Services
      • Cannabis
      • Cosmetics and Personal Care
      • Fashion
      • Food & Beverages
      • Furniture and Furnishings
      • Home Improvement
      • Household, Consumer & Cosmetics
      • Household Products
      • Jewelry
      • Non-Alcoholic Beverages
      • Office Products
      • Organic Food
      • Product Recalls
      • Restaurants
      • Retail
      • Supermarkets
      • Toys
      • View All Consumer Products & Retail

      • Entertain­ment & Media

      • Advertising
      • Art
      • Books
      • Entertainment
      • Film and Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • View All Entertain­ment & Media

      • Health

      • Biometrics
      • Biotechnology
      • Clinical Trials & Medical Discoveries
      • Dentistry
      • FDA Approval
      • Fitness/Wellness
      • Health Care & Hospitals
      • Health Insurance
      • Infection Control
      • International Medical Approval
      • Medical Equipment
      • Medical Pharmaceuticals
      • Mental Health
      • Pharmaceuticals
      • Supplementary Medicine
      • View All Health

      • Sports

      • General Sports
      • Outdoors, Camping & Hiking
      • Sporting Events
      • Sports Equipment & Accessories
      • View All Sports

      • Travel

      • Amusement Parks and Tourist Attractions
      • Gambling & Casinos
      • Hotels and Resorts
      • Leisure & Tourism
      • Outdoors, Camping & Hiking
      • Passenger Aviation
      • Travel Industry
      • View All Travel

  • Policy & Public Interest
      • Policy & Public Interest

      • Advocacy Group Opinion
      • Animal Welfare
      • Congressional & Presidential Campaigns
      • Corporate Social Responsibility
      • Domestic Policy
      • Economic News, Trends, Analysis
      • Education
      • Environmental
      • European Government
      • FDA Approval
      • Federal and State Legislation
      • Federal Executive Branch & Agency
      • Foreign Policy & International Affairs
      • Homeland Security
      • Labor & Union
      • Legal Issues
      • Natural Disasters
      • Not For Profit
      • Patent Law
      • Public Safety
      • Trade Policy
      • U.S. State Policy
      • View All Policy & Public Interest

  • People & Culture
      • People & Culture

      • Aboriginal, First Nations & Native American
      • African American
      • Asian American
      • Children
      • Diversity, Equity & Inclusion
      • Hispanic
      • Lesbian, Gay & Bisexual
      • Men's Interest
      • People with Disabilities
      • Religion
      • Senior Citizens
      • Veterans
      • Women
      • View All People & Culture

  • Hamburger menu
  • Cision PRWeb provides efficient communication tools to continuously engage with target audiences across multiple online channels
  • Create a Free Account
    • ALL CONTACT INFO
    • Contact Us


      11AM ET Sunday – 8PM ET Friday

  • Send a Release
  • Sign up
  • Log in
  • Resources
  • RSS
  • GDPR
  • News in Focus
    • Browse All News
    • Multimedia Gallery
  • Business & Money
    • Auto & Transportation
    • Business Technology
    • Entertain­ment & Media
    • Financial Services & Investing
    • General Business
  • Science & Tech
    • Consumer Technology
    • Energy & Natural Resources
    • Environ­ment
    • Heavy Industry & Manufacturing
    • Telecomm­unications
  • Lifestyle & Health
    • Consumer Products & Retail
    • Entertain­ment & Media
    • Health
    • Sports
    • Travel
  • Policy & Public Interest
  • People & Culture
    • People & Culture
  • Send a Release
  • Sign up
  • Log in
  • Resources
  • RSS
  • GDPR
  • Send a Release
  • Sign up
  • Log in
  • Resources
  • RSS
  • GDPR
  • Send a Release
  • Sign up
  • Log in
  • Resources
  • RSS
  • GDPR

Rett Syndrome Research Trust Awards $9 Million to Accelerate Translation of Lab Discoveries to the Clinic
  • USA - English


News provided by

Rett Syndrome Research Trust

Mar 10, 2016, 03:00 ET

Share this article

Share toX

Share this article

Share toX


Trumbull, CT (PRWEB) March 10, 2016 -- Today the Rett Syndrome Research Trust (RSRT) announced research awards totaling nearly $9 million in 2015. This is the most research ever awarded in a given year by any Rett Syndrome organization.

“We are in a new era of genetics and neurobiology, which suggests that some disorders, including Rett Syndrome, need not equate to permanent disability

Post this

This significant influx of funding was made possible by the generosity and commitment of donors, partner organizations, and the critically important effort of families that hold events and raise funds. RSRT’s low overhead costs (an average of 96% of every dollar raised is spent on our research program), rigorous scientific standards, and fierce motivation of our trustees and staff assure that these contributors’ funds have maximum impact on RSRT’s ultimate goal—eradicating Rett Syndrome and related disorders.

“We are in a new era of genetics and neurobiology, which suggests that some disorders, including Rett Syndrome, need not equate to permanent disability. The $34 million awarded by RSRT since 2008 has enabled researchers to leverage decades of scientific progress toward the study of MECP2 with unwavering focus on the most important deliverable – the development of novel disease-altering therapeutics. The 2015 awards are more clinically focused than ever, a sure sign that we are getting closer to advancing the first therapeutics developed from the bottom up, from gene identification to pathophysiology in animals to human trials. Families who have helped to fund this research have a lot to be proud of. I am excited to be joining this effort as together we move the research forward with urgency,” said Randall Carpenter, Chief Scientific Officer at RSRT.

Highlights of RSRT’s 2015 awards:

• Funding of $4.5 million was awarded to the Outcome Measures and Biomarker Development Consortium (OMBD), a collaboration among four Rett Syndrome clinicians - Alan Percy (University of Alabama at Birmingham), Aleksandra Djukic (Montefiore Medical Center, Bronx), Daniel Tarquinio (Children’s Healthcare of Atlanta), and Timothy Benke (Children’s Hospital Colorado)—to advance clinical trial methodology for the disease. The clinicians will design a number of Rett specific scales as well as test wearable devices and novel technology to yield objective, simple and reproducible read-outs for clinical trials. The goal of the OMBD is to help define the regulatory pathway to drug approval. Funding will also support the infrastructure to curate this project including a cutting edge data management system. This ambitious project will be managed by RSRT’s Chief Scientific Officer, Randall Carpenter who has decades of experience in clinical research.

• A complementary project under the direction of John Foxe at the University of Rochester and Sophie Molholm at Albert Einstein College of Medicine was awarded $533,607. They will characterize the processing capabilities of individuals with Rett using a variety of auditory electroencephalogram (EEG) and event-related potentials (ERP). These brain-mapping techniques should improve our understanding of the fundamental auditory processing abilities of individuals with Rett syndrome and establish a set of biomarkers that will have potential utility as outcome measures in clinical trials.

• An award of $530,000 was made to Neurolixis, a company developing a drug, NLX-101, to treat breathing abnormalities in Rett Syndrome. The drug targets a specific serotonin receptor (5-HT1A) located in regions of the brain that affect respiration, mood and cognition. It’s possible that, beyond breathing, the drug may also improve other core symptoms such as anxiety and movement disorders. Neurolixis has already obtained Orphan Drug status for NLX-101 in both the US and in Europe.

• Jeannie Lee (Harvard Medical School/Massachusetts General Hospital), Antonio Bedalov (Fred Hutchinson Cancer Research Center) and Joost Gribnau (Erasmus MC), part of the Reactivating MECP2 Consortium, were awarded a total of $1.8 million to further their efforts aimed at waking up the silent MECP2 gene on the inactive X chromosome. Successful reactivation of the gene addresses the underlying root cause of the disease that could profoundly improve Rett symptoms. Reactivation of MECP2 is a therapeutic strategy identified and aggressively pursued by RSRT. The first award was made to Antonio Bedalov in 2008. Currently there are seven laboratories working collaboratively on this approach that has recently garnered considerable interest from the pharmaceutical industry.

• In 2013 Michael Greenberg, a member of the MECP2 Consortium, reported that Rett mice and patients have abnormally high levels of genes that are physically long. An award of $400,000 to Mark Zylka (University of North Carolina Chapel Hill) will support research to screen for compounds that can bring the expression levels of long genes back to normal. The Zylka lab has expertise in the study of long gene expression and chemical screening.

• Many of the most severely afflicted children with Rett have nonsense mutations in MeCP2 caused by a premature stop codon that shortens the protein. Read-through drugs have the ability to splice out the stop codon thereby restoring the full-length protein. To date, aminoglycoside antibiotics have shown the most promise, but their use is limited by significant systemic toxicity. Conversely, the compound ataluren (PTC Therapeutics) is structurally different from the aminoglycosides and is much less toxic; unfortunately, it is also less potent and has limited brain penetrability. An award of $268,452 was made to Andrew Napper of duPont Hospital for Children who will screen for novel “read-through” compounds.

“What RSRT does best is identify and fill knowledge gaps, often by catalyzing teams of scientists and clinicians working together. We’ve done that with the MECP2 Consortium, the Gene Therapy Consortium, the Reactivating MECP2 Consortium. Today we launch the OMBD Consortium. With every conversation I had with pharmaceutical executives and investors it became more and more apparent that the lack of objective and sensitive read-outs for trials was impeding companies from entering the Rett drug development space. I am confident that the thoughtful and creative work of Doctors Benke, Djukic, Percy and Tarquinio and the financial resources and infrastructure provided by RSRT will solve this problem. I thank every donor who supports us for making this critical work possible,” said Monica Coenraads, Executive Director of RSRT.

Our partners in supporting this work are parents’ organizations worldwide including Reverse Rett (UK), Rett Syndrome Research & Treatment Foundation (Israel), Rett Syndrome Ireland, Rett Syndrom Deutschland. Our U.S. partners that helped make this research possible include Girl Power 2 Cure, Eva Fini Fund at RSRT, Kate Foundation for Rett Syndrome Research, Rocky Mountain Rett Association, New Jersey Rett Syndrome Association, Rett Syndrome Association of Massachusetts.

List of 2015 Awards

Clinical Research

Outcome Measures and Biomarkers Development
Alan Percy, Sasha Djukic, Daniel Tarquinio, Timothy Benke
University of Alabama at Birmingham, Montefiore Medical Center, Children’s Healthcare of Atlanta, Children’s Hospital Colorado
$4.5 million / 3 years

From Sensory-Perceptual Representations to Cognitive Processing in Rett Syndrome
John Foxe, Sophie Molholm
University of Rochester, Albert Einstein College of Medicine
$533,607 / 3 years

Tri-State Rett Syndrome Center at Montefiore
Aleksandra Djukic
$88,000

Attacking the Root of Rett Syndrome

Genetic and pharmacologic reactivation of Mecp2 on the silent X-chromosome as a therapeutic approach to Rett Syndrome
Antonio Bedalov
Fred Hutchinson Cancer Research Center
$824,575 / 3 years

Treating Rett Syndrome by Targeting the Xist Interactome
Jeannie Lee
Harvard University
$766,854 / 3 years

In vivo and in vitro models for X chromosome reactivation
Joost Gribnau
Erasmus MC (The Netherlands)
$177,900 / 2 ½ years

Spliceosome-Mediated RNA Trans-Splicing Therapy in Rett Syndrome
Stuart Cobb
University of Glasgow
$86,208 / 1 year

Drug Development and Screening

Clinical Development of NLX-101 in Rett Syndrome
Neurolixis
$530,000 / 1 year

Testing NR2A and NR2B NAMs in mouse models of Rett Syndrome
Michela Fagiolini
Boston Children’s Hospital
$337,336 / 2 years

Exploration of the impact of 2-hydroxypropyl-B-cyclodextrin treatment on lifespan and brain cholesterol metabolism in male mecp2 deficient mice
Stephen Turley/Adam Lopez
University of Texas Southwestern Medical Center
$156,180 / 1 year

High Throughput screen to identify drugs that normalize long gene expression in
Rett Syndrome model neurons
Mark Zylka
University of North Carolina School of Medicine
$400,000 / 2 years

Discovery and In Vivo Characterization of Compounds Promoting MECP2 Read-Through
Andrew Napper
Nemours/A.I. duPont Hospital for Children
$268,452 / 1 ½ years

Miscellaneous Pilot Studies
$111,021

About Rett Syndrome
Rett Syndrome is a genetic neurological disorder that almost exclusively affects girls. It strikes randomly, typically at the age of 12 to 18 months, and is caused by random mutations of the MECP2 gene on the X chromosome. Rett Syndrome is devastating as it deprives young girls of speech, hand use, normal movement often including the ability to walk. As the girls enter childhood the disorder brings anxiety, seizures, tremors, breathing difficulties, severe gastrointestinal issues. While their bodies suffer, it is believed that their cognitive abilities remain largely intact. Although most children survive to adulthood, they require total round-the-clock care.

About the Rett Syndrome Research Trust
The Rett Syndrome Research Trust (RSRT) is a non-profit organization with a highly personal and urgent mission: a cure for Rett Syndrome and related MECP2 disorders. In search of a cure and effective treatment options, RSRT operates at the nexus of global scientific activity. We enable advances in knowledge and drive innovative research through constant engagement with academic scientists, clinicians, industry, investors and affected families. These relationships catalyze the development and execution of a research agenda that neither academia nor industry could achieve alone. RSRT refutes the conventional practice of labs working in isolation, instead seeking out, promoting and funding collaborations and consortia in which scientists work across multiple disciplines. Since 2008, RSRT has awarded $34 million to research projects. To learn more about the Trust, please visit http://www.ReverseRett.org

Monica Coenraads, Rett Syndrome Research Trust, http://www.rsrt.org, +1 (203) 445.0041, [email protected]

Modal title

Contact PRWeb

  • 11AM ET Sunday – 8PM ET Friday
  • Contact Us

About PRWeb

  • About PRWeb
  • Partners
  • Partnership Programs
  • Editorial Guidelines
  • Resources

Why PRWeb

  • Why PRWeb
  • How It Works
  • Who Uses It
  • Pricing

Accounts

  • Create a Free Account
  • Log in
  • Contact Us

Do not sell or share my personal information:

  • Submit via [email protected] 
  • Call Privacy toll-free: 877-297-8921

Contact Cision

Products

About

My Services
  • All News Releases
  • Online Member Center
  • ProfNet
Cision Distribution Helpline
888-776-0942
  • Legal
  • Site Map
  • RSS
  • Cookie Settings
Copyright © 2025 Cision US Inc.