Discovery fuels hope for Rett syndrome treatment
(Vanderbilt University Medical Center) Vanderbilt University researchers have relieved symptoms of Rett syndrome in a mouse model with a small molecule that works like the dimmer switch in an electrical circuit. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 23, 2017 Category: International Medicine & Public Health Source Type: news
Drug improves brain performance in Rett syndrome mice
(University of Alabama at Birmingham) A brain penetrant drug -- a small-molecule mimetic of BDNF, or brain derived neurotrophic factor -- is able to improve brain performance in Rett syndrome mice -- specifically synaptic plasticity in the hippocampus and object location memory. The hippocampus is involved in learning and memory. The drug also increased the distance mice traveled in an open field test, a measure of general locomotor activity, to normal levels. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 27, 2017 Category: International Medicine & Public Health Source Type: news
Seven lessons I ’ve learned from Rett syndrome
As a mother of a child with Rett syndrome, a disability that affects the brain’s ability to plan or coordinate motor skills, the phrase “take for granted” takes on a whole new meaning. I cannot take for granted that Ava can recite her A, B, C’s or feed herself a snack or go to the bathroom on her own. Quite the opposite. Every day, I strive to properly appreciate the effort it takes for Ava to perform the most mundane tasks. I am the one being “schooled” on Rett syndrome.
Here are seven of the things Rett syndrome has taught me:
1. Technology is seriously cool.
Ava doesn’t speak, but she can communicate. Sh...
Source: Thrive, Children's Hospital Boston - July 18, 2017 Category: Pediatrics Authors: Joanne Gryniewicz Tags: Our Patients’ Stories rett syndrome Source Type: news
Biohaven's BHV-5000 Receives Orphan Drug Designation from the FDA in Rett Syndrome
NEW HAVEN, Conn., July 6, 2017 -- (Healthcare Sales & Marketing Network) -- Biohaven Pharmaceutical Holding Company Ltd. (NYSE: BHVN) announced today that BHV-5000, an investigational compound in the company's glutamate modulation platform, has been grant... Biopharmaceuticals, Neurology, FDA Biohaven Pharmaceutical, BHV-5000, Rett syndrome, orphan drug designation (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - July 6, 2017 Category: Pharmaceuticals Source Type: news
Personalized metabolic therapy treatment shows improvement on atypical Rett syndrome
(IDIBELL-Bellvitge Biomedical Research Institute) Administration of the amino acid D-serine, a dietary supplement, contributes to the improvement of the cognitive and motor capacity of a patient with a mutation that affects glutamate receptors (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 4, 2017 Category: International Medicine & Public Health Source Type: news
David Geffen School of Medicine at UCLA names winner of Switzer Prize for research excellence
Dr. Huda Zoghbi, a neurologist whose work has revealed the molecular basis of neurological disorders, is the recipient of the 2017 Switzer Prize awarded by theDavid Geffen School of Medicine at UCLA for excellence in biological and biomedical sciences research.Zoghbi ’s lab at the Baylor College of Medicine identified a gene mutation that causes Rett syndrome, a severe genetic disorder that mostly affects girls. After a short period of apparently normal development, the disorder causes them to lose language and motor skills, typically by 18 months of age. The discovery paved the way for a genetic test to diagnose the dis...
Source: UCLA Newsroom: Health Sciences - June 19, 2017 Category: Universities & Medical Training Source Type: news
A Vote To Gut Medicaid Is A Vote Against Families
In response to imminent threats to Medicaid, The Arc produced a series of videos which share personal stories of people with disabilities and their families, and highlight the vital importance of Medicaid in gaining access to the home and community based supports and services needed to live independent and fulfilling lives.
Meet Soojung. Her 11 year-old daughter, Alice, has Rett Syndrome and relies on overnight nursing services to be able to live at home with her family.
Watch as Linda from North Carolina tells the story of how Medicaid changed her son Javi’s life.
Listen to Bryan tell his story about...
Source: Healthy Living - The Huffington Post - June 14, 2017 Category: Consumer Health News Source Type: news
AveXis to Advance Gene Therapy Program Initiated by the Rett Syndrome...
The Rett Syndrome Research Trust (RSRT) is excited to announce that AveXis, Inc., has committed to advance a gene therapy candidate for Rett Syndrome into human clinical trials.(PRWeb June 08, 2017)Read the full story at http://www.prweb.com/releases/2017/06/prweb14408379.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - June 8, 2017 Category: Pharmaceuticals Source Type: news
Living with Rett syndrome, living with hope
For the first year of her life, Ava Gryniewicz seemed to be developing like any other happy baby. She had learned a few words, including “mama” and “dada,” and was picking up Cheerios with pincer fingers.
But by the time she was 14 months old, everything had changed. Ava started to lose these skills and wasn’t reaching other milestones. At the recommendation of her daycare center, she started early intervention.
“She wasn’t keeping up and her daycare providers were concerned that standard daycare might be too much for her,” says her mom, Joanne. That’s when Joanne and her husband Jack decided to have Ava ...
Source: Thrive, Children's Hospital Boston - June 1, 2017 Category: Pediatrics Authors: Ellen Greenlaw Tags: Our Patients’ Stories Alycia Berg Augmentative communication Dr. Jonathan Picker rett syndrome Rett Syndrome Program Suzanne Rose Source Type: news
Rettsyndrome.org funds additional $775K of new research projects in Q1 2017
(Rettsyndrome.org) The International Rett Syndrome Foundation, now doing business as Rettsyndrome.org, announces the addition of six research projects to its Research Portfolio in the first quarter of 2017. A commitment of $775,000, through research grants, brings the largest non-governmental private funder of Rett research above the recently attained milestone of $40M research dollars to $41M. These funds have continually been designated to accelerate research for Rett syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2017 Category: Global & Universal Source Type: news
Sustained attention in the face of distractors: a study of children with Rett syndrome - Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.
OBJECTIVE: The object of the present study is to advance our understanding of the cognitive profile of Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. We focus on sustained attention, which plays a critic... (Source: SafetyLit)
Source: SafetyLit - April 11, 2017 Category: Global & Universal Tags: Age: Infants and Children Source Type: news
Neuren reports positive top-line results from Phase II trial of trofinetide for Rett syndrome
Australian-based biopharmaceutical firm Neuren Pharmaceuticals has reported positive top-line results from the Phase II clinical trial of trofinetide to treat girls with Rett syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - March 26, 2017 Category: Pharmaceuticals Source Type: news
The Rett Syndrome Research Trust Announces Roadmap to Cure Devastating...
Human clinical trials of gene therapy on the horizon.(PRWeb March 22, 2017)Read the full story at http://www.prweb.com/releases/2017/03/prweb14176403.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - March 23, 2017 Category: Pharmaceuticals Source Type: news
Scientists Uncover Possible Therapeutic Targets for Rare Autism Spectrum Disorder
Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 31, 2017 Category: Science Source Type: news
In Rett syndrome model, team shows how adult learning is impaired in females
In mouse models of Rett syndrome -- which in humans is seen overwhelmingly in females -- researchers have demonstrated how failure of Mecp2, the mouse equivalent of the human gene of the same name, has biological consequences that prevent adult females from learning how to gather newborn pups in the days immediately following the pups ' birth. They reversed the defect. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 18, 2017 Category: Science Source Type: news
