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Roche (RHHBY) Demonstrates Strong Commitment to Neurodevelopmental Disorders

6/18/2013 11:41:43 AM

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Basel, 18 June 2013 -- Recently, Roche hosted a scientific symposium in Basel, Switzerland, which brought together international experts to discuss new findings in neurodevelopmental disorders such as autism and Down syndrome. These scientists, part of the Roche Autism Collaboration and Innovation Network (RACIN), which comprises more than 20 institutions, are collaborating with Roche to explore the biological causes of these disorders.

“Neurodevelopmental disorders are an area of high unmet medical need and Roche is committed to finding therapies for conditions such as autism spectrum disorder (ASD), Fragile X and Down syndrome,” said Luca Santarelli, Head of Roche Neuroscience and Small Molecule Research. “By collaborating with leading academic institutions and biotech companies, and forming public-private partnerships, we hope to improve our understanding of these disorders enabling us to select the right targets and discover disease-modifying treatments that will benefit those suffering from these conditions.” At present, no effective pharmacological treatments exist that target the molecular basis and core symptoms of neurodevelopmental disorders.

Investigators from the network presented data that induced pluripotent stem cells (iPSCs) derived from ASD patients have shared defects in synaptic development, and mis-regulation of key intracellular pathways. Also, that mice engineered to carry the same genetic mutations as those in autism patients show shared behavioral defects, suggesting that these new murine models may facilitate drug development.

One of the RACIN collaborators in the area of stem cells is the Children’s Hospital Boston, Massachusetts General Hospital and Harvard Medical School, Harvard University. “We see our iPS cell collaboration with Roche as a great opportunity to identify fundamental cellular changes associated with autism. This could allow us to identify new targets for therapeutic intervention" said Michael Greenberg, Chair of Neurobiology at Harvard Medical School and a lead scientist in the Roche-Harvard collaboration.

“We are reprogramming human somatic cells to iPSCs so that we can study the key phenotypic characteristics of neurons in individuals with autism,” said Meghan Wayne, Licensed Genetic Counselor, Division of Genetics at Boston Children's Hospital. “This is very exciting work and we feel strongly that our collaboration with the elite scientists at both Harvard and Roche will bring new ideas and insights into the advancement of autism research.”

The first patient-derived, induced pluripotent stem cells have arrived at Roche for detailed characterization. “This is a first important milestone in identifying cellular mechanisms that lead to autistic behavior,” said Anirvan Ghosh, Head of Roche’s Neuroscience Discovery and Biomarker Area. “Findings from these cellular models of disease will inform murine-based models that are developed in EU-AIMS, a European-wide consortium funded by the Innovative Medicines Initiative coordinated by Roche and King’s College.” The EU-AIMS objectives go beyond cellular and rodent-based models and are geared toward developing new standards in clinical development, including a clinical trials network.

About Roche Neuroscience

Roche is working on new molecular entities in neuroscience that could become the next generation of medicines for a range of diseases including schizophrenia, multiple sclerosis, depression, neurodevelopmental disorders, Parkinson’s disease and Alzheimer’s disease. With one of the strongest neuroscience pipelines in the industry, and by working closely with academic institutions, biotech companies, and forming public-private partnerships, Roche’s focus is on expanding its neuroscience franchise to better serve patients.

The Roche Neuroscience pipeline targeting neurodevelopmental disorders includes:

• RG7090, an investigational potent and selective MGluR5 antagonist, in Phase II trials for Fragile X to improve functional deficits ( In March 2012, the FDA Office of Orphan Products Development designated RG7090 an orphan drug for the treatment of Fragile X syndrome.

• RG7314, a V1A vasopressin receptor antagonist-V1a, being investigated in Phase I trials in patients with autism spectrum disorders.

• RG1662, a highly selective GABA-A a5 Negative Allosteric Modulator, being investigated in Phase I clinical development for Down syndrome. This is the first compound specifically designed to improve cognitive impairment believed to result from excessive inhibition of specific brain circuits in this disorder. Therefore, it may have the potential to enable individuals with Down syndrome to live more independent lives.

• Three additional investigational compounds are in preclinical testing for autism.

About autism spectrum disorders (ASD)

Autism is a general term used to describe a group of complex developmental brain disorders – autism spectrum disorders – caused by a combination of genes and environmental influences. These disorders are characterized, in varying degrees, by social and behavioral challenges, as well as repetitive behaviors. ASD affects around 1/100 children, but still has no effective drug treatments. ASD symptoms include problems with social interactions, behaviour, coordination, language and communication, ranging from mild to severe, and they vary with age.

About Fragile X syndrome

Fragile X syndrome is the most common form of inherited intellectual disability and a leading cause of autism. The condition is caused by mutations in the FMR1 gene and affects approximately 1/4000 males and 1/8000 females. Fragile X patients have a normal life expectancy and suffer from a complex neuropsychiatric phenotype of varying severity, which includes anxiety, hyperactivity, learning and memory deficits, low IQ, difficulty with social and communications skills, as well as seizures. There is currently no approved pharmacotherapy available for Fragile X. It can be a devastating condition with a major impact on families and caregivers, as many patients require daily support, including behavioral management techniques, appropriate school placement, community support for the family, and careful medical follow-up often including psychopharmacology.

About Down syndrome

Down syndrome is one of the most common chromosomal abnormalities affecting around one in 650 to 1,000 live births. Worldwide some 30,000 babies are born with Down syndrome each year. People with Down syndrome have a wide range of abilities but the majority has cognitive deficits, which can lead to challenges with independence in their daily activities, education and employment. At present, no treatment options currently address the cognitive impairments associated with Down syndrome. Therefore, new treatments that improve cognitive skills and help people with Down syndrome adapt and function better in their environment, may offer them a greater degree of independence.

About Roche

Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest biotech company with truly differentiated medicines in oncology, infectious disease, inflammation metabolism and neuroscience. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche’s personalized healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2012, Roche had over 82,000 employees worldwide and invested over 8 billion Swiss francs ($9 billion US) in R&D. The Group posted sales of 45.5 billion Swiss francs ($48.4 billion US). Genentech, United States, is a wholly owned member of the Roche Group. Roche is the majority stake in Chugai Pharmaceutical, Japan. For more information:

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Roche Group Media Relations

Štepán Krácala

Phone: +41 -61 688 8888 / e-mail:

Roche Public Affairs, Nutley, NJ

Darien Wilson

Phone: +1 973 562-2232 / e-mail:

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