EMG Supports the Research into GRIN Disorders
What are GRIN disorders?
GRIN Disorders are rare genetic conditions with severe life-limiting consequences. Many GRIN patients are non-verbal, unable to walk, and many cannot feed or toilet themselves. They often suffer severe and frequent seizures that are not responsive to medical therapies.
GRIN Disorders are caused by a change in one of seven GRIN genes including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These genes contain the code to create NMDA receptors, which are essential for learning and memory. Most cases are de novo (not inherited from the parent) missense mutations where a single letter is “misspelled” among the 3.2-billion letters of human DNA.
Diagnosing GRIN1, GRIN2A, GRIN2B, and GRIN2D
Parents of children with GRIN Disorders typically notice that something is wrong when infants begin missing milestones. GRIN Disorders are usually diagnosed by genetic testing called Genome sequencing. As genetic tests become more affordable, it is increasingly common for children to be diagnosed before the age of two. However, without a genetic diagnosis, some individuals are incorrectly diagnosed with cerebral palsy, autism or another genetic disorder such as Angelman Syndrome.
Most common symptoms of GRIN Disorders
- developmental delay
- intellectual disability
- epilepsy (seizures)
- hypotonia (low tone)
- constipation (GI Issues)
- limited or non-verbal communication
- cortical visual impairment (CVI)
- dystonia
- sleep disorders
- feeding difficulties
- limited mobility
- autism
What we do
Our EMG community has selected a rare genetic disease as a key target to our company involvement: Grin2B. This deviation only affects a small group of children and adults, but the effect can be huge to their lives.
We decided to allocate 10% of our profits to research and parent support. Our funding enabled a researcher, doctor Xavier Altafaj Tardillo, with research institution Idibell in Barcelona, to conduct several studies – one, for example, into the effect of generic approved drugs on Grin related disorders.
EMG builds bridges between business relations, researchers and medical professionals as a non-monetary contribution.
Learn more about Grin2B disorder here
