A dietary supplement improves skills of an atypical Rett syndrome patient
(IDIBELL-Bellvitge Biomedical Research Institute) Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 18, 2019 Category: International Medicine & Public Health Source Type: news
Novel Drug Promising for Life-Threatening Rett Syndrome in Kids Novel Drug Promising for Life-Threatening Rett Syndrome in Kids
Now under development, trofinetide could eventually fill the critical need for a safe and effective treatment for the life-threatening Rett syndrome in children and teens.Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - April 8, 2019 Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news
The girl who will never grow up because of rare genetic condition
Penny Stewart, from Blyth in Northumberland, was just two years old when she was robbed of her movement and speech. She was diagnosed with Rett syndrome after two years of tests. (Source: the Mail online | Health)
Source: the Mail online | Health - March 4, 2019 Category: Consumer Health News Source Type: news
Rett Syndrome Research Trust Awards $10 Million to Preeminent...
Thanks to a $10 million investment in Rett Syndrome research in 2018 - the largest annual award since the organization was founded in 2008 - the Rett Syndrome Research Trust (RSRT) is fueling exciting...(PRWeb January 23, 2019)Read the full story at https://www.prweb.com/releases/rett_syndrome_research_trust_awards_10_million_to_preeminent_researchers_in_pursuit_of_curing_devastating_neurological_disorder/prweb16051173.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - January 23, 2019 Category: Pharmaceuticals Source Type: news
Rett Syndrome Research Trust Names Timothy A. Riley Chief Scientific...
The Rett Syndrome Research Trust (RSRT) is delighted to announce that Timothy A. Riley, Ph.D. has joined the organization in the role of Chief Scientific Officer and Chief Business Officer. Randall...(PRWeb September 26, 2018)Read the full story at https://www.prweb.com/releases/rett_syndrome_research_trust_names_timothy_a_riley_chief_scientific_officer_and_chief_business_officer_randall_carpenter_transitions_to_chief_medical_officer/prweb15788279.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - September 26, 2018 Category: Pharmaceuticals Source Type: news
Deep Brain Stimulation Affects the Activity of Hundreds of Genes
Changes in gene activity levels after DBS appear to underlie improvements seen in a mouse model of Rett syndrome, a genetic disease that causes intellectual disability. (Source: The Scientist)
Source: The Scientist - May 14, 2018 Category: Science Tags: Daily News,The Scientist Source Type: news
A new drug shows preclinical efficacy in Rett syndrome
(IDIBELL-Bellvitge Biomedical Research Institute) A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - May 14, 2018 Category: Biology Source Type: news
David Geffen School Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,” Martin s...
Source: UCLA Newsroom: Health Sciences - February 17, 2018 Category: Universities & Medical Training Source Type: news
David Geffen School of Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,” Martin s...
Source: UCLA Newsroom: Health Sciences - February 16, 2018 Category: Universities & Medical Training Source Type: news
Rett syndrome: Woman fundraises for three-year-old daughter
Sophie Edes cannot talk due to the rare syndrome. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - February 3, 2018 Category: Consumer Health News Source Type: news
Researchers reverse symptoms in neurologic disease model
(Case Western Reserve University) Rett syndrome is a devastating genetic, neurologic disorder that typically affects girls, resulting in severe disability and often accompanied by autistic behavior. Most Rett patients will live into middle age and require specialized full-time care. There is no cure, but researchers from Case Western Reserve University School of Medicine have been working to find ways to restore brain function and reverse disabilities associated with Rett syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 29, 2018 Category: International Medicine & Public Health Source Type: news
James Wilson, MD, PhD, from the University of Pennsylvania, Joins the...
The Rett Syndrome Research Trust (RSRT) is pleased to announce that James Wilson, MD, PhD, director of the University of Pennsylvania Gene Therapy Program and the Rose H. Weiss Orphan Disease Center,...(PRWeb January 26, 2018)Read the full story at http://www.prweb.com/releases/2018/01/prweb15132993.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - January 26, 2018 Category: Pharmaceuticals Source Type: news
X chromosome reactivation could treat Rett syndrome, other X-linked disorders
(Massachusetts General Hospital) A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 4, 2018 Category: International Medicine & Public Health Source Type: news
Neuren to conduct first phase 3 clinical trial for Rett Syndrome
(Rettsyndrome.org) Rettsyndrome.org is pleased to share that Neuren Pharmaceuticals, today, after meeting with the FDA, will conduct a Phase 3 clinical trial for trofinetide, a compound that shows great promise in the treatment of Rett syndrome, in children and adults. This critical Phase 3 trial will be the final clinical step before FDA approval to become a prescribable drug. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - October 12, 2017 Category: Biology Source Type: news
What Causes Microcephaly?
Discussion
Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births.
The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
