Sarepta Therapeutics Reports Sustained Functional Improvement Two Years After Treatment with SRP-9001, its Investigational Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
Dear Investor, Please find attached a press release from our partner Sarepta Therapeutics:https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-reports-sustained-functional-improvement Do not hesitate to contact us for any further questions. With best regards, (Source: Roche Investor Update)
Source: Roche Investor Update - September 28, 2020 Category: Pharmaceuticals Source Type: news

Interpreting multiple outcomes of pupillary light reflex in sport-related concussion in adolescents - Beaulieu WT, Glassman AR.
Sport-related concussions (SRCs), a form of traumatic brain injury, are a concern for athletes of all levels and parents of young athletes. Subjective measures of visual function, such as convergence, have shown promise in detecting subconcussive injury. H... (Source: SafetyLit)
Source: SafetyLit - September 26, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

Utility of pupillary light reflex metrics as a physiologic biomarker for adolescent sport-related concussion - Master CL, Podolak OE, Ciuffreda KJ, Metzger KB, Joshi NR, McDonald CC, Margulies SS, Grady MF, Arbogast KB.
Importance: Concussion diagnosis remains clinical, without objective diagnostic tests available for adolescents. Known deficits in visual accommodation and autonomic function after concussion make the pupillary light reflex (PLR) a promising target as an o... (Source: SafetyLit)
Source: SafetyLit - September 26, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

Pupillary Light Reflex Metrics May ID Sports Concussion in Teens
FRIDAY, Sept. 25, 2020 -- Several pupillary light reflex (PLR) metrics are increased for adolescents with concussion versus healthy controls, according to a study published online Sept. 24 in JAMA Ophthalmology. Christina L. Master, M.D., from the... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - September 25, 2020 Category: Pharmaceuticals Source Type: news

New Duchenne muscular dystrophy drug shows benefit in Duke trial
(Duke University Medical Center) A new drug offers hope for young boys with the progressive neuromuscular disease Duchenne muscular dystrophy (DMD) by potentially offering an alternative to high-dose glucocorticoids that have significant side effects. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 25, 2020 Category: International Medicine & Public Health Source Type: news

Canadians should make mask-wearing a 'reflex' in daily life as COVID-19 cases rise, experts say
Experts say at this point in the pandemic, with COVID-19 cases rising, Canadians should be donning their masks more, not less. (Source: CBC | Health)
Source: CBC | Health - September 24, 2020 Category: Consumer Health News Tags: News/Canada/Toronto Source Type: news

Stomach bloating: A life-sustaining reflex could cause a bloated belly
STOMACH bloating typically occurs due to trapped air in the small intestine. One life-sustaining reflex could be the culprit behind your bloated belly - what is it? (Source: Daily Express - Health)
Source: Daily Express - Health - September 18, 2020 Category: Consumer Health News Source Type: news

A sympathetic tumor response
(Source: ScienceNOW)
Source: ScienceNOW - September 17, 2020 Category: Science Authors: Fogg, C. N. Tags: twis Source Type: news

Australia ’s field force: evolving on fast forward
The pandemic has, it will surprise no one, upended traditional ways of working for pharma ’s Australian field force. “I don't think that we will ever go back to working the way we did pre-COVID, ” says David Grolman, Medical Director at Pfizer Australia and New Zealand.”   But arguably this is less of a revolution than it might first seem. The havoc and disruption it has wreaked has merely accelerated change that was happening anyway, much of it positive, says Matthew Britland, VP of the Australian Pharmaceutical medical and scientific Professionals Association (APPA). “It’s c...
Source: EyeForPharma - September 16, 2020 Category: Pharmaceuticals Authors: Lucy Fulford Source Type: news

Scientists uncover a novel approach to treating Duchenne muscular dystrophy
(Sanford Burnham Prebys Medical Discovery Institute) Scientists at Sanford Burnham Prebys, Fondazione Santa Lucia IRCCS, and Universit à Cattolica del Sacro Cuore have shown that pharmacological (drug) correction of the content of extracellular vesicles released within dystrophic muscles can restore their ability to regenerate muscle and prevent muscle scarring. The study, published in EMBO Reports, reveals a promising new therapeutic approach for Duchenne muscular dystrophy (DMD), an incurable muscle-wasting condition, and has far-reaching implications for the field of regenerative medicine. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 15, 2020 Category: Biology Source Type: news

Drugging the undruggable: Yale finds treatment path for muscular dystrophy
Researchers have identified a possible treatment for Duchenne muscular dystrophy, a rare genetic disease for which there is currently no cure or treatment. (Source: Yale Science and Health News)
Source: Yale Science and Health News - September 11, 2020 Category: Universities & Medical Training Source Type: news

New data further reinforce Roche ’s OCREVUS (ocrelizumab) as a highly effective treatment for people with multiple sclerosis
Basel, 11 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced new data that show OCREVUS® (ocrelizumab) is a highly effective treatment option for people with relapsing-remitting multiple sclerosis (RRMS) who experienced a suboptimal response to their prior disease modifying therapy (DMT). Subgroup analys is from the two-year open-label Phase IIIb CASTING study also demonstrates that patients benefit across a wide range of disease related and demographic subgroups, regardless of prior treatment background. Findings will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee...
Source: Roche Media News - September 11, 2020 Category: Pharmaceuticals Source Type: news

New data further reinforce Roche ’s OCREVUS (ocrelizumab) as a highly effective treatment for people with multiple sclerosis
Basel, 11 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced new data that show OCREVUS® (ocrelizumab) is a highly effective treatment option for people with relapsing-remitting multiple sclerosis (RRMS) who experienced a suboptimal response to their prior disease modifying therapy (DMT). Subgroup analys is from the two-year open-label Phase IIIb CASTING study also demonstrates that patients benefit across a wide range of disease related and demographic subgroups, regardless of prior treatment background. Findings will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee...
Source: Roche Investor Update - September 11, 2020 Category: Pharmaceuticals Source Type: news

Drugging the undruggable: Yale finds treatment path for muscular dystrophy
(Yale University) Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD), a rare genetic disease for which there is currently no cure or treatment, by targeting an enzyme that had been considered " undruggable. " The finding appears in the Aug. 25 edition of Science Signaling. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 11, 2020 Category: International Medicine & Public Health Source Type: news

New data show Roche ’s ENSPRYNG (satralizumab) significantly reduces severity and risk of relapse in neuromyelitis optica spectrum disorder (NMOSD)
Basel, 10 September 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) will present new ENSPRYNG ® (satralizumab) data on reducing relapse severity in the treatment of neuromyelitis optica spectrum disorder (NMOSD), a rare disease of the central nervous system. These data are being presented at MSVirtual2020, the 8th joint ACTRIMS-ECTRIMS meeting, in addition to longer-term efficacy data supporting the continued effect of ENSPRYNG on reducing the risk of NMOSD relapse, as well as its favourable benefit:risk profile.“The data for ENSPRYNG at MSVirtual2020 are promising and suggest it significantly reduces relapse severity ...
Source: Roche Media News - September 10, 2020 Category: Pharmaceuticals Source Type: news

New data show Roche ’s ENSPRYNG (satralizumab) significantly reduces severity and risk of relapse in neuromyelitis optica spectrum disorder (NMOSD)
Basel, 10 September 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) will present new ENSPRYNG ® (satralizumab) data on reducing relapse severity in the treatment of neuromyelitis optica spectrum disorder (NMOSD), a rare disease of the central nervous system. These data are being presented at MSVirtual2020, the 8th joint ACTRIMS-ECTRIMS meeting, in addition to longer-term efficacy data supporting the continued effect of ENSPRYNG on reducing the risk of NMOSD relapse, as well as its favourable benefit:risk profile.“The data for ENSPRYNG at MSVirtual2020 are promising and suggest it significantly reduces relapse severity ...
Source: Roche Investor Update - September 10, 2020 Category: Pharmaceuticals Source Type: news

Children's program about 12-year-old 'trans' girl debuts on BBC to normalize drugging and mutilating kids
(Natural News) A new drama recently debuted on British state television for kids starring a transgender girl in an attempt to paint “her” in a sympathetic light and essentially encourage transgenderism among the youth. (Article by Shane Trejo republished from BigLeaguePolitics.com) The CBBC broadcast First Day last week as a coming-of-age story about a fictional 12-year-old transgender girl’s transition... (Source: NaturalNews.com)
Source: NaturalNews.com - September 9, 2020 Category: Consumer Health News Source Type: news

Roche expands its multiple sclerosis portfolio with investigational BTK inhibitor fenebrutinib and initiates novel clinical trials for OCREVUS (ocrelizumab)
Basel, 9 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced the initiation of an innovative Phase III clinical trial programme for its investigational medicine fenebrutinib in multiple sclerosis (MS), along with a higher-dose Phase III clinical trial programme for OCREVUS® (ocrelizumab) and a distinct O CREVUS trial specifically to support African-American and Hispanic- and Latinx-American patients with MS. Overviews of clinical trials and scientific rationale will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTR...
Source: Roche Media News - September 9, 2020 Category: Pharmaceuticals Source Type: news

Roche expands its multiple sclerosis portfolio with investigational BTK inhibitor fenebrutinib and initiates novel clinical trials for OCREVUS (ocrelizumab)
Basel, 9 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced the initiation of an innovative Phase III clinical trial programme for its investigational medicine fenebrutinib in multiple sclerosis (MS), along with a higher-dose Phase III clinical trial programme for OCREVUS® (ocrelizumab) and a distinct O CREVUS trial specifically to support African-American and Hispanic- and Latinx-American patients with MS. Overviews of clinical trials and scientific rationale will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTR...
Source: Roche Investor Update - September 9, 2020 Category: Pharmaceuticals Source Type: news

fMRI shows how 'one day at a time' works for alcoholics
Functional MRI (fMRI) shows how the Alcoholics Anonymous mantra "one day at...Read more on AuntMinnie.comRelated Reading: New MRI contrast material promises earlier liver diagnosis Ultrasound identifies alcohol-induced liver disease PET, fMRI find beer reflex in brain Brain MRI reveals how AA prayers work (Source: AuntMinnie.com Headlines)
Source: AuntMinnie.com Headlines - September 1, 2020 Category: Radiology Source Type: news

Treatments for Inherited Neuromuscular Diseases of Childhood Treatments for Inherited Neuromuscular Diseases of Childhood
This review highlights recent advances in gene-specific therapies for neuromuscular diseases of childhood, including spinal muscular atrophy, Duchenne muscular dystrophy, and centronuclear myopathy.Seminars in Neurology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - August 27, 2020 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news

In the Age of Digital Medicine, This Humble Medical Tool Hangs On In the Age of Digital Medicine, This Humble Medical Tool Hangs On
The simple reflex hammer has a long, storied past and remains as relevant as ever in the neurology clinic.Medscape Neurology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - August 27, 2020 Category: Consumer Health News Tags: Neurology & Neurosurgery Article Source Type: news

Duchenne: " Crosstalk " between muscle and spleen
(University of Bonn) Duchenne muscular dystrophy (DMD) is the most common muscle disease in children and is passed on by X-linked recessive inheritance. Characteristic is a progressive muscular atrophy. The disease often results in death before the third decade of life. Researchers of the Universities of Maynooth (Ireland) and Bonn have found a connection between dystrophic muscles and the lymphatic system in mice with Duchenne disease. The results have now been published in the journal " iScience " . (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 27, 2020 Category: International Medicine & Public Health Source Type: news

Sarepta Therapeutics Announces FDA Acceptance of Casimersen (SRP-4045) New Drug Application for Patients with Duchenne Muscular Dystrophy Amenable to Skipping Exon 45
CAMBRIDGE, Mass., Aug. 25, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the U.S. Food and Drug Administration (FDA) has accepted the Company’s... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - August 25, 2020 Category: Drugs & Pharmacology Source Type: news

Blunted salivary cortisol response to psychosocial stress in women with posttraumatic stress disorder - Metz S, Duesenberg M, Hellmann-Regen J, Wolf OT, Roepke S, Otte C, Wingenfeld K.
Posttraumatic stress disorder (PTSD) is characterized by alterations in the hypothalamic-pituitary-adrenal (HPA) axis and sympathetic nervous system (SNS). There is evidence for a blunted HPA axis reactivity to psychosocial stress. Less is known about how ... (Source: SafetyLit)
Source: SafetyLit - August 20, 2020 Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news

Drug Trials Snapshots: VILTEPSO
VILTEPSO is a drug for the treatment of a particular type of Duchenne muscular dystrophy (DMD). (Source: FDA Center for Drug Evaluation and Research - What's New)
Source: FDA Center for Drug Evaluation and Research - What's New - August 18, 2020 Category: Drugs & Pharmacology Authors: FDA Source Type: news

Viltepso (viltolarsen) Injection Granted Accelerated Approval for Rare Duchenne Muscular Dystrophy Mutation
THURSDAY, Aug. 13, 2020 -- Accelerated approval has been granted to Viltepso (viltolarsen) injection for treatment of patients with Duchenne muscular dystrophy (DMD) and a mutation of the DMD gene amenable to exon 53 skipping, the U.S. Food and Drug... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - August 13, 2020 Category: General Medicine Source Type: news

FDA OKs Viltolarsen (Viltepso) for Duchenne Muscular Dystrophy FDA OKs Viltolarsen (Viltepso) for Duchenne Muscular Dystrophy
Viltolarsen is for patients with Duchenne muscular dystrophy with a confirmed mutation amenable to exon 53 skipping.FDA Approvals (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - August 13, 2020 Category: Neurology Tags: Neurology & Neurosurgery News Alert Source Type: news

FDA Approves Viltepso (viltolarsen) for the Treatment of Duchenne Muscular Dystrophy in Patients Amenable to Exon 53 Skipping Therapy
PARAMUS, N.J., Aug. 12, 2020 /PRNewswire/ -- NS Pharma, Inc. announced today that the U.S. Food& Drug Administration (FDA) has approved Viltepso (viltolarsen) injection for patients with Duchenne muscular dystrophy (DMD) who are amenable to... (Source: Drugs.com - New Drug Approvals)
Source: Drugs.com - New Drug Approvals - August 12, 2020 Category: Drugs & Pharmacology Source Type: news

Where Do We Come From? What Are We? Where Are We Going?
By Jan LundiusSTOCKHOLM / ROME, Aug 10 2020 (IPS) COVID-19 has become a scourge affecting all levels of human society – morals, behaviour, human interaction, economy and politics. The pandemic has wrecked havoc on our way of being and its impact will remain huge and all-encompassing. It is not only affecting our globally shared existence, it is also changing what has been called ”the little life”, i.e. our own way of thinking and being, our personal life situation and the one of those close to us; people we love and depend upon – our friends and family. COVID-19 has so far mainly contaminated human...
Source: IPS Inter Press Service - Health - August 10, 2020 Category: International Medicine & Public Health Authors: Jan Lundius Tags: Economy & Trade Environment Featured Global Headlines Health Humanitarian Emergencies TerraViva United Nations Source Type: news

Biased hate crime perceptions can reveal supremacist sympathies - Leander NP, Kreienkamp J, Agostini M, Stroebe W, Gordijn EH, Kruglanski AW.
People may be sympathetic to violent extremism when it serves their own interests. Such support may manifest itself via biased recognition of hate crimes. Psychological surveys were conducted in the wakes of mass shootings in the United States, New Zealand... (Source: SafetyLit)
Source: SafetyLit - August 1, 2020 Category: International Medicine & Public Health Tags: Jurisprudence, Laws, Legislation, Policies, Rules Source Type: news

A Boy With Muscular Dystrophy Was Headed For A Wheelchair. Then Gene Therapy Arrived
(Source: NPR Health and Science)
Source: NPR Health and Science - July 27, 2020 Category: Consumer Health News Authors: Jon Hamilton Source Type: news

Sarepta Therapeutics Receives Fast Track Designation for SRP-9001 Micro-Dystrophin Gene Therapy for the Treatment of Duchenne Muscular Dystrophy
Dear Investor, Please find attached a press release by Sarepta Therapeutics:https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-receives-fast-track-designation-srp-9001 Do not hesitate to contact us for any further questions. With best regards, (Source: Roche Investor Update)
Source: Roche Investor Update - July 24, 2020 Category: Pharmaceuticals Source Type: news

Researchers Hope Experimental Gene Therapy Is An Answer To A Fatal Genetic Disorder
Researchers believe gene therapy is poised to change the lives of thousands with the fatal genetic disorder Duchenne muscular dystrophy — thanks to over 40 years of scientist Jude Samulski's work. (Source: NPR Health and Science)
Source: NPR Health and Science - July 20, 2020 Category: Consumer Health News Authors: Jon Hamilton Source Type: news

The real reason behind goosebumps
(Harvard University) Harvard researchers have discovered that the cells that cause goosebumps are also important for regulating the stem cells that regenerate hair. In the skin, the muscle that contracts to create goosebumps is necessary to bridge the sympathetic nerve's connection to hair follicle stem cells. The sympathetic nerve reacts to cold by contracting the muscle and causing goosebumps in the short term, and by driving stem cell activation and new hair growth over the long term. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 20, 2020 Category: International Medicine & Public Health Source Type: news

Coronavirus Outbreaks Linked to Fraternity Houses are a Warning for College Campuses
Recent coronavirus outbreaks have been linked to fraternities at universities in Washington, California and Mississippi, and experts say it’s an example of what’s to come as many colleges reopen for in-person classes beginning in August. At least 136 fraternity house residents and nine other students at the University of Washington in Seattle had tested positive for COVID-19 as of July 10 in what officials called a “Greek Row outbreak.” It “provides lessons for students as they consider their return to campus this fall,” said Dr. Geoffrey Gottlieb, chair of the university’s Advisor...
Source: TIME: Health - July 13, 2020 Category: Consumer Health News Authors: Katie Reilly Tags: Uncategorized COVID-19 Education Source Type: news

Complex rehabilitation of a patient with marked motor and cognitive impairments after a brain injury - Kiselev NI, Lim VG, Novikov AV, Bordina OV, Ternovoy KS.
In the presented case report, the complex approach of rehabilitation in the remote period of traumatic brain injury (TBI) allowed the achievement of the significant clinical effect. The authors analyzed the experience of reflex therapy in the treatment of ... (Source: SafetyLit)
Source: SafetyLit - July 7, 2020 Category: International Medicine & Public Health Tags: TBI Source Type: news

Test-retest reliability and response stability of gaze stabilization, postural sway, and dynamic balance tests in persons with multiple sclerosis and controls - Garg H, Schubert MC, Gappmaier E, Sibthorp J, Bo Foreman K, Dibble LE.
This study investigated the test-retest reliability and response stability of gaze stabilization,... (Source: SafetyLit)
Source: SafetyLit - July 5, 2020 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

Hansa Biopharma Announces Exclusive Agreement With Sarepta Therapeutics to Develop and Promote Imlifidase as Pre-treatment Ahead of Gene Therapy in Select Indications
Hansa grants Sarepta exclusive license to develop and promote imlifidase as a potential pre-treatment prior to the administration of gene therapy in Duchenne muscular dystrophy and Limb-girdle muscular dystrophy, for patients with neutralizing antibodies (... Biopharmaceuticals, Licensing Hansa Biopharma, Sarepta Therapeutics, imlifidase, muscular dystrophy (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - July 2, 2020 Category: Pharmaceuticals Source Type: news

New treatment for common form of muscular dystrophy shows promise in cells, animals
(University of Alberta Faculty of Medicine& Dentistry) Researchers have designed a potential new treatment for one of the most common forms of muscular dystrophy, according to a new study published today in the Proceedings of the National Academy of Sciences. Toshifumi Yokota, professor of medical genetics at the University of Alberta, led a team from Canada and the U.S. to create and test synthetic DNA-like molecules that interfere with the production of a toxic protein that destroys the muscles of people who have facioscapulohumeral muscular dystrophy (FSHD). (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 29, 2020 Category: International Medicine & Public Health Source Type: news

What Are Examples of Infantile Primitive Reflexes?
Discussion As part of the normal developmental process of central nervous system maturation, primitive reflexes (i.e. infantile automatisms) occur which are automatic movement patterns which can begin during fetal development and continue after birth. Some appear important for human survival such as rooting and sucking to obtain nutrition. Others may be phylogenetic remnants. Primitive reflexes are present and disappear at predictable times and therefore can assist in evaluation of infant development. There is a range of normal and some can persist to older ages in some individuals. Primitive reflexes that occur before or ...
Source: PediatricEducation.org - June 29, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Facioscapulohumeral muscular dystrophy community speaks to the FDA
FSHD Society holds externally led Patient-Focused Drug Development Meeting on FSH muscular dystrophy(PRWeb June 29, 2020)Read the full story at https://www.prweb.com/releases/facioscapulohumeral_muscular_dystrophy_community_speaks_to_the_fda/prweb17220588.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - June 29, 2020 Category: Pharmaceuticals Source Type: news

Sarepta Therapeutics Completes Submission of New Drug Application Seeking Approval of Casimersen (SRP-4045) for Patients with Duchenne Muscular Dystrophy Amenable to Skipping Exon 45
CAMBRIDGE, Mass., June 26, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the Company has completed the submission of a rolling New Drug Application... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - June 26, 2020 Category: Drugs & Pharmacology Source Type: news

New structural 'map' solves mysteries of gigantic gene regulator
(Walter and Eliza Hall Institute) Structural biology has been used to 'map' part of a protein called SMCHD1, explaining how some changes in SMCHD1 cause certain developmental and degenerative conditions.Publishing in the journal Science Signaling, the Walter and Eliza Hall Institute team revealed the structure of the portion of the SMCHD1 protein that is crucial to its function in 'switching off' genes. Inherited mutations in this part of SMCHD1 have been linked to a developmental disorder and a form of muscular dystrophy. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 17, 2020 Category: International Medicine & Public Health Source Type: news

Seeing corneal degeneration in a new light
(UT Southwestern Medical Center) The molecular changes that lead to Fuchs' endothelial corneal dystrophy (FECD) occur decades before the disease causes blurry vision and other noticeable symptoms in patients, new research by UT Southwestern scientists shows. This insight into this earliest stage of FECD may eventually lead to new ways of screening for and treating the common condition, which affects an estimated 4 percent of U.S. adults over the age of 40. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 17, 2020 Category: International Medicine & Public Health Source Type: news

Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid-binding residues
Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is an epigenetic regulator in which polymorphisms cause the human developmental disorder, Bosma arhinia micropthalmia syndrome, and the degenerative disease, facioscapulohumeral muscular dystrophy. SMCHD1 is considered a noncanonical SMC family member because its hinge domain is C-terminal, because it homodimerizes rather than heterodimerizes, and because SMCHD1 contains a GHKL-type, rather than an ABC-type ATPase domain at its N terminus. The hinge domain has been previously implicated in chromatin association; however, the underlying mechan...
Source: Signal Transduction Knowledge Environment - June 16, 2020 Category: Science Authors: Chen, K., Birkinshaw, R. W., Gurzau, A. D., Wanigasuriya, I., Wang, R., Iminitoff, M., Sandow, J. J., Young, S. N., Hennessy, P. J., Willson, T. A., Heckmann, D. A., Webb, A. I., Blewitt, M. E., Czabotar, P. E., Murphy, J. M. Tags: STKE Research Articles Source Type: news

First report of systemic delivery of micro-dystrophin gene therapy in children with DMD
(Nationwide Children's Hospital) Researchers from Nationwide Children's Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy (DMD) -- and initial findings suggest that the therapy can provide functional improvement that is greater than that observed under the standard of care. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 15, 2020 Category: International Medicine & Public Health Source Type: news

UNISON wins clearer COVID-19 guidance for its disabled members
UNISON has successfully lobbied for the government’s COVID-19 guidance to acknowledge that many of the ‘extremely vulnerable’ people who have been instructed to shield at home during the pandemic are also workers – whose employers may not have been sympathetic. Until the end of May, the guidance on shielding did not adequately take into account disabled people in employment. UNISON national officer for disability equality Deirdre Costigan said: “From the beginning, we’ve had members on the list whose employers were demanding that they go to work – they were not allowed to work from...
Source: UNISON meat hygiene - June 8, 2020 Category: Food Science Authors: Demetrios Matheou Tags: Article News bargaining coronavirus Covid-19 disabled members Source Type: news

4 Types of Narcissism Share This Trait
Narcissism is many faceted and comes in several types. Narcissists will use a variety of tactics and defenses to keep you insecure and ensure their status and that their needs are met. It’s easy to be confused, but it’s important to understand and spot which type of narcissist you’re dealing with. Recently, two research teams have identified a common trait. The Grandiose Narcissist Although there are different kinds and degrees of narcissism, for years research mainly focused on the familiar — exhibitionistic narcissists who seek the limelight. These are the boastful grandiose narcissists who are pu...
Source: Psych Central - June 5, 2020 Category: Psychiatry Authors: Darlene Lancer, JD, MFT Tags: Narcissism Personality Codependency Covert Narcissist entitlement grandiose narcissism Malignant narcissism Narcissistic Personality Disorder Source Type: news