EGL Genetics Blog

A Mother's Plea - Lobbying For Canavan Disease Research Funding

Posted by Danyella Davis on Feb 1, 2017 3:00:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, IIyce Randell, President and Cofounder of Canavan Research Illinois/Canavan Disease Research

 
On March 6, 1998, my 5-month-old son Max was diagnosed with a fatal and progressive brain disease called Canavan. There are many things we as parents encounter and experience when our children are born with a rare, or in my son’s case, an ultra-rare disease. 

We are often thrown into the role of nurse, physical therapist, and patient advocate before the full weight of the diagnosis even settles in. There's really no way to prepare for these new duties. We must quickly learn on-the-fly because our child’s life might depend on it.

On the day of my son's diagnosis, Max was given one to four years to live. That was the day I decided that I would never give up on my child without a fight. I didn’t know what that fight would entail, but I was determined to do everything humanly possible to save my baby.

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Topics: neurologic conditions, rare disease, ultra rare disease, Canavan disease, research funding

Video - Genetic Testing for Neurologic Disorders at EGL

Posted by Wendy Sheats on Dec 31, 2015 11:00:00 AM
 

The growing body of evidence supporting the role of genetics in neurologic disorders has resulted in neurogenetics becoming an increasingly discussed topic within the healthcare field, promoting genetic testing as a valuable tool at the clinician’s disposal. However, with so many testing options available and the genetic etiology of some neurologic conditions remaining unclear, multi-factorial, and requiring additional patient counseling, where does one begin to incorporate genetic testing into the treatment paradigm?

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Topics: neurologic conditions, neurogenetics, genetic testing

EGL is a Proud Supporter of Decode Duchenne, Jain Foundation, and the LGMD Consortium

Posted by Antonio Shaw on Dec 10, 2015 11:00:00 AM

Muscular dystrophy (MD) is a group of musculoskeletal diseases that cause progressive weakness, loss of muscle mass, and impaired locomotion. In muscular dystrophy, abnormal genetic variations impede the production of proteins necessary for healthy muscles. There are various types of MD, and the clinical presentations of the most common variety begin in childhood, primarily in males. However, other types of MD don't appear until adulthood.

With many of the neuromuscular disorders overlapping in their clinical and/or pathological phenotypes, molecular testing can be necessary to pinpoint the precise disorder a patient has.

EGL has partnered with three organizations, Parent Project Muscular Dystrophy, the Jain Foundation, and LGMD consortium to help spread MD awareness, provide assistance to individuals and families affected by MD, and find a cure.

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Topics: neurologic conditions, muscular dystrophy, genetic testing, dystrophy

 

 

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