EGL Genetics Blog

Rare Disease Day: With Research, Possibilities are Limitless

Posted by Danyella Davis on Feb 28, 2017 3:00:00 PM

Imagine being riddled with concern, burdened with more questions than answers, drowning in a slue of symptoms with no diagnosis. Or, perhaps you’re one of 200,000 individuals diagnosed with a rare disease that has no cure or treatment. Where do you turn, who’s your support, and what resources are available? Rare disease patients may often struggle to find the support system they need or medical solutions and answers. For those reasons and more, Rare Disease Day was created.

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Topics: rare disease day

The EGL Genetics 2.0 Initiative - Ready For Launch!

Posted by Derek Stevens on Feb 22, 2017 3:00:00 PM

For the past year, we've been keeping all of our clients and the genetics community updated on our progress towards moving into a brand new, state-of-the-art facility. Following last weekend's final push, we've successfully moved into our new home located at 2460 Mountain Industrial Boulevard, Tucker, GA 30084.

And, we've successfully passed a State of Georgia inspection with zero deficiencies! Now that our facility has been upgraded, it's time to take a hard look at improving our service levels, with the goal of exceeding industry standards. 

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Topics: EGL Genetics, Emory Genetics Laboratory, Billing Support, Enhanced Client Services, New Client Portal Features, Improved Turnaround Times

Brugada Syndrome: A Rare Cardiac Disorder

Posted by Eleina Cox on Feb 14, 2017 3:00:00 PM

In recognition of American Heart Awareness Month this February and Rare Disease Day on February 28th, this week's blog focuses on a rare cardiovascular disorder known as Brugada syndrome. 

Never heard of Brugada syndrome? 

Continue reading to find out more about this condition.

 

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Topics: cardiac disorders, rare disease, cardiovascular disorders, cardiogenetics, sudden death, syncope, heart, brugada, brugada syndrome, arrythmias, cardiac arrest

The Rare & Undiagnosed Family

Posted by Danyella Davis on Feb 7, 2017 3:00:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, Gina Szajnuk, for sharing her family's diagnostic odyssey. 

During the summer of 2014, I co-founded the Rare & Undiagnosed Network (RUN)RUN’s mission is to empower rare and undiagnosed patients and their families with genomic information through community, advocacy, networking and support. RUN is a platform for families to share their journey.

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Topics: My Beautiful CHILD, rare and undiagnosed diseases

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

PPMD Awards Gene Therapy Grant

Posted by Danyella Davis on Jan 25, 2017 3:00:00 PM

In an effort to further accelerate research within the Duchenne community, Parent Project Muscular Dystrophy (PPMD) awarded Dr. Jerry Mendell,  Dr. Louise Rodino-Klapac and Nationwide Children's Hospital with a $2.2 million grant.

"We are entering a new chapter in gene transfer therapeutics and while there are still questions to answer, the faster we move to answer these questions, the faster we know if a strategy will work," said Abby Bronson, SVP, Research Strategy, PPMD.  

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Topics: muscular dystrophy, Duchenne, neuromuscular disorders, Parent Project Muscular Dystrophy, Nationwide Children's Hospital, DMD, PPMD, gene therapy, clinical study, grant, Jerry Mendell

My Beautiful CHILD: Victor

Posted by Eleina Cox on Jan 18, 2017 3:00:00 PM


This week, the My Beautiful CHILD Spotlight is on Victor. He was diagnosed with Pitt-Hopkins Syndrome (PTHS), but his diagnosis has not stopped him from being a happy and outgoing child. Thank you to Victor's loving parents, Theresa and Paul for sharing his story. 

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Topics: My Beautiful CHILD

A Mother Paying it Forward

Posted by Danyella Davis on Jan 11, 2017 3:20:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, Marlene Soto, for sharing her son's diagnostic odyssey. 

Shocking news...

The news that I was expecting after the recent loss of a baby was so heartwarming. I carefully followed my doctor’s orders and took my prenatal care very seriously. I was shocked when the doctors recommended we induce labor for my child’s safety. After my son, Antonio Luis, better known as Aj was born, I was only allowed to hold him for a few seconds before he was admitted to the Neonatal Intensive Care Unit. Aj was born with intrauterine growth restriction, small for gestational age, underdeveloped lungs, patent foramen ovale (heart defect), microcephaly, micronagthia, polydactly, and pectus. For weeks, I spent my days and what felt like endless nights in the hospital. It was then that I was told my son had to be seen by a geneticist because he was born with a syndrome.

 

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Topics: My Beautiful CHILD

An Undiagnosed Rare Disease Times 4! Meet the Szajnuk Family.

Posted by Danyella Davis on Jan 5, 2017 12:00:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, Gina Szajnuk, for sharing her family's diagnostic odyssey. 

My name is Gina Szajnuk and I am the mother of three children, Ava, Lucy, and Oskar. Each have an undiagnosed genetic dysfunction. I too am undiagnosed. We live in a diagnostic odyssey times four. Since the beginning of our journey, we have been to eight hospitals in now five states. 

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Topics: rare disease, whole genome sequencing, whole exome sequencing

2016 Year in Review

Posted by Derek Stevens on Dec 8, 2016 11:33:42 AM

Emory Genetics Laboratory was founded in 1970 and while our long history is full of many scientific and technologic innovations, first-to-market genetic testing options, and experts in the field of medical genetics, 2016 has been one of our greatest years yet.

 

Thanks to the joint venture formed by Emory University and Eurofins Scientific, a global leader in clinical diagnostics and genomic services, Emory Genetics Laboratory will be reaching even higher heights with a brand new, 61,000-sq-ft, state-of-the-art laboratory.

 

New home, new name. That’s right, after 46 years of serving our clients as Emory Genetics Laboratory, we’ll soon transition to a new brand identity.

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Topics: genetic testing, New employees, new building, new laboratory, Emory University School of Medicine, genetic counseling, 2016, Eurofins, Year in Review, new president, joint venture

 

 

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