Free Genetic Testing for Lysosomal Storage Diseases Provided by Invitae, Axovant
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Free Genetic Testing for Lysosomal Storage Diseases Provided by Invitae, Axovant

  According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…

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It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases
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It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases

  As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…

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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases
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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…

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Neurogene and Behind the Seizure Work to Provide Better Diagnostics for Batten Disease
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Neurogene and Behind the Seizure Work to Provide Better Diagnostics for Batten Disease

Neurogene, which works to provide treatments for rare neurological disorders, has recently joined with Behind the Seizure. Behind the Seizure was established by two other companies, BioMarin and Invitae, with…

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A Girl Diagnosed with Batten Disease got Treated with a Drug Developed Specifically for Her

According to a story from Technology Review, the story of Mila Makovec shows the potential impact that personalized medicine could have on patients while also revealing some of its limitations.…

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Personalized Medicine: A Drug Tailored for a Six Year Old With Batten Disease May Serve as a Template for Similar Rare Disorders

  Mila Makovec began her life as a normal, healthy infant, and according to a recent article in Science Magazine, she continued along this path until reaching the age of…

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NHS Finally Reverses Almost 2 Year Policy Against Offering Cerliponase Alfa to Batten Disease Patients
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NHS Finally Reverses Almost 2 Year Policy Against Offering Cerliponase Alfa to Batten Disease Patients

According to a recent publication from Express Digest, England's National Health Service (NHS) has reversed its earlier position on a rare disease drug after lengthy public debate, now agreeing to…

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Amicus Therapeutics Continue to Develop Investigative Treatments for Fabry, Pompe, and Batten Diseases
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Amicus Therapeutics Continue to Develop Investigative Treatments for Fabry, Pompe, and Batten Diseases

According to a publication from Fabry Disease News, Amicus Therapeutics has as many as 14 investigational drugs currently in development for the treatment of rare diseases including Fabry, Pompe, and…

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Tickets are on Sale Now for Rare Disease Film Festival in Boston

Are we ready for our close-up? The second annual Selections from DISORDER: The Rare Disease Film Festival at Biotech Week Boston will be held at the Takeda Auditorium in Cambridge,…

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Drug Company and Foundation Partner Up to Develop New Treatment for Batten Disease
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Drug Company and Foundation Partner Up to Develop New Treatment for Batten Disease

According to a story from Market Screener, the biopharmaceutical company Theranexus and the Beyond Batten Disease Foundation (BBDF) have recently signed an agreement to work towards the continued development of…

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Potential Treatment for Infantile Batten Disease Earns Fast Track Designation
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Potential Treatment for Infantile Batten Disease Earns Fast Track Designation

According to a story from globenewswire.com, the gene and cell therapy company Abeona Therapeutics, Inc. has recently announced that its experimental gene therapy ABO-202 has earned Fast Track designation from…

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Parents of Kids Affected by Batten Disease Take Legal Action to Maintain Access to Critical Treatment
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Parents of Kids Affected by Batten Disease Take Legal Action to Maintain Access to Critical Treatment

According to a story from Express Digest, Lucy and Mike Carroll don't know for how much longer their children will be able to live happy lives. This is because their…

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FDA Clears Company to Begin Trials for Experimental CLN1 Disease Gene Therapy
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FDA Clears Company to Begin Trials for Experimental CLN1 Disease Gene Therapy

According to a story from apnews.com, the gene and cell therapy company Abeona Therapeutics, Inc., has recently announced that the US Food and Drug Administration (FDA) has given the company's…

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Diagnostic Timeline for Lysosomal Storage Disorders like Fabry Disease Significantly Reduced in South Africa

The Problem Lysosomal storage disorders (LSDs) affect approximately one out of every 7,000 people. There are around 50 different types of LSDs. These include Fabry disease, Batten disease, Gaucher disease,…

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