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NDIS

Aug 28, 2020
2 min

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for ne

1 view0 comments

Pharnext’s PXT864 Shows Promising Neuroprotective Effects in ALS, Early Study Shows

Jonathan Shar

Aug 28, 2020
3 min

Pharnext’s PXT864 Shows Promising Neuroprotective Effects in ALS, Early Study Shows

Pharnext’s investigational oral combination therapy PXT864 prevents degeneration of motor neurons and their point of contact with...

6 views0 comments

Viltepso Commercially Available in the US for DMD Treatment

Jonathan Shar

Aug 26, 2020
2 min

Viltepso Commercially Available in the US for DMD Treatment

NS Pharma‘s Viltepso (viltolarsen) is now commercially available in the U.S. for people with Duchenne muscular dystrophy (DMD) amenable to e

8 views0 comments

Vertex Triple Combo, Kaftrio, Approved for CF Patients in EU With F508del Mutation

Jonathan Shar

Aug 25, 2020
2 min

Vertex Triple Combo, Kaftrio, Approved for CF Patients in EU With F508del Mutation

The European Commission (EC) approved Kaftrio (ivacaftor/tezacaftor/elexacaftor) in combination with Kalydeco (ivacaftor) to treat cystic fi

6 views0 comments

Inside scientists’ quest to map, modulate social circuits in autism

Jonathan Shar

Aug 18, 2020
5 min

Inside scientists’ quest to map, modulate social circuits in autism

One of the biggest mysteries in autism research is understanding how the condition’s discrete set of traits emerges from a multitude of...

2 views0 comments

First Patients Enrolled in Phase 2b Trial Testing MS1819 for Exocrine Pancreatic Insufficiency in CF

Jonathan Shar

Aug 17, 2020
2 min

First Patients Enrolled in Phase 2b Trial Testing MS1819 for Exocrine Pancreatic Insufficiency in CF

AzurRx BioPharma has enrolled the first three patients in its Phase 2b trial investigating MS1819 as a treatment for exocrine pancreatic ins

4 views0 comments

Innovate UK Grant Supports Early Work on Cell Therapy for ALS

Jonathan Shar

Aug 17, 2020
2 min

Innovate UK Grant Supports Early Work on Cell Therapy for ALS

Innovate UK has given a grant to Reflection Therapeutics to help fund research into new ways of protecting the nervous system from motor neu

4 views0 comments

Jonathan Shar

Aug 14, 2020
5 min

Motor difficulties in autism, explained

Most autistic people — 87 per cent, according to the latest estimate — have some sort of motor difficulty, ranging from an atypical gait to

34 views0 comments

First Participants Dosed in Early Clinical Trial of Inhaled Therapy ARO-ENaC

Jonathan Shar

Aug 13, 2020
2 min

First Participants Dosed in Early Clinical Trial of Inhaled Therapy ARO-ENaC

A Phase 1/2 clinical trial assessing Arrowhead Pharmaceuticals‘ investigational inhaled therapy, ARO-ENaC, for the treatment of cystic fibr

6 views0 comments

AC Immune Working to Move TDP-43 Antibody Into Clinical Testing for ALS

Jonathan Shar

Aug 10, 2020
2 min

AC Immune Working to Move TDP-43 Antibody Into Clinical Testing for ALS

AC Immune is planning to advance its investigational anti-TDP-43 antibody into clinical testing for neurodegenerative diseases, like amyotr

5 views0 comments

Mental health website for people with intellectual disability created with help of those with lived

Jonathan Shar

Aug 4, 2020
4 min

Mental health website for people with intellectual disability created with help of those with lived

Key points: Figures show almost 470,000 Australians live with an intellectual disability About half of them will experience mental

8 views0 comments

New Screening System Allows HEDGE Study Enrollment Without In-person Visits

Jonathan Shar

Jul 31, 2020
2 min

New Screening System Allows HEDGE Study Enrollment Without In-person Visits

A new screening system will allow people with hypermobile Ehlers-Danlos syndrome (hEDS) to participate in the worldwide Hypermobile Ehlers-D

4 views0 comments

A Year After Gene Therapy, Boys With Muscular Dystrophy Are Healthier and Stronger

Jonathan Shar

Jul 31, 2020
3 min

A Year After Gene Therapy, Boys With Muscular Dystrophy Are Healthier and Stronger

Two and a half years ago, a study published in Science Advances detailed how the gene-editing tool CRISPR/Cas-9 repaired genetic mutations r

0 views0 comments

Thread-based Wearable Device May Help Diagnose, Monitor CF and Other Conditions

Jonathan Shar

Jul 31, 2020
4 min

Thread-based Wearable Device May Help Diagnose, Monitor CF and Other Conditions

Researchers have developed the first thread-based flexible patch that can be sewn into clothing to monitor — in real-time — several molecule

8 views0 comments

Proteins — and labs — coming together to prevent Rett syndrome

Jonathan Shar

Jul 30, 2020
4 min

Proteins — and labs — coming together to prevent Rett syndrome

New discoveries about the disruption of condensates in the neurodevelopmental disorder Rett syndrome provide insights into how cells compart

10 views0 comments

Virtual Walk & Roll Event On Sept. 12 Targeting Muscular Dystrophy Cure

Jonathan Shar

Jul 28, 2020
2 min

Virtual Walk & Roll Event On Sept. 12 Targeting Muscular Dystrophy Cure

With a goal of finding a cure to facioscapulohumeral muscular dystrophy (FSHD) by 2025, the FSHD Society’s third annual Walk & Roll To Cure

2 views0 comments

New FUS Mutation Linked to Aggressive ALS in Teenage Girl

Jonathan Shar

Jul 28, 2020
2 min

New FUS Mutation Linked to Aggressive ALS in Teenage Girl

A new mutation in the FUS gene, which results in a shorter version of the FUS protein that cannot enter form the cell nucleus to work as it

10 views0 comments

Jonathan Shar

Jul 26, 2020
2 min

Spinal cord injuries in mice cause acquired bone marrow failure syndrome

Research conducted at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine found that SCI in...

2 views0 comments

Novel Function of MeCP2 Protein Could Be Route to Rett Therapy, Study Suggests

Jonathan Shar

Jul 25, 2020
3 min

Novel Function of MeCP2 Protein Could Be Route to Rett Therapy, Study Suggests

Mutations in the MECP2 gene, which lead to most cases of Rett syndrome, prevent the formation of droplet-like structures that regulate DNA.

1 view0 comments

1 in 5 Australians are struggling with mental health – what does this mean for ECEC?

Jonathan Shar

Jul 24, 2020
2 min

1 in 5 Australians are struggling with mental health – what does this mean for ECEC?

A new report, released yesterday by the Australian Institute for Health and Welfare (AIHW) confirms how widespread mental illness...

0 views0 comments

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