Genetic Medicine as a Treatment for Painful Rare Diseases

With a series of blogs and a 50% off on all tests, Dante Labs is thrilled to work with Dazzle4Rare to make Whole Genome Sequencing accessible to more people and help them live a better life. 
Barby Ingle has share her experience with us: read about it

About #Dazzle4Rare

Dazzle4Rare represents a group of non-profit communities, patients, and caregivers across genetic and acquired conditions. Banding together means to finally have a voice, thanks to social-strategies in order to reach each other’s friends and family networks. 
By sharing stories, people have an opportunity to raise a greater awareness and, finally, to be heard. 
The more they speak up and speak out, the more likely they are to reach those who may need to hear their message the most.
Dante Labs is happy to give its voice and help them share their words.

Barby Ingle's Story

"I attended and have spoken at many health conferences over the years. Most had the same speakers and the same topics, but a promising new development was discussed at one meeting: Genetic medicine as a treatment for painful diseases. This presentation has stuck with me since participating in it.

For those who are new to the concept of gene replacement therapy, this is a potential way to treat genetic diseases that would save time, pain, life and energy for anyone with a gene related health challenge. New genetic therapies, such as gene editing and oligonucleotides, are already paving the way towards treating rare diseases. Gene therapy focuses on adding a corrected copy of a gene or directly altering a mutated gene, while oligonucleotides are synthetic molecules used to inactivate genes involved in the disease process. I listened to leaders from patient advocacy and industry discuss the promise of these new approaches, including Bartholomew Tortella, MD, who is a leader in Global Medical Affairs at Pfizer and Pushkal Garg, MD, who is Chief Medical Officer at Alnylam Pharmaceuticals. It was interesting to me that pharmaceutical companies are on the forefront of gene therapies. One of the things I learned is that genetic editing and remapping are “one and done” treatments. A gene fix can only be done once. No doubt it would be expensive, but if it works what is the price of 30 years of standard treatments to manage a condition vs. a one-time treatment that can reverse the actual underlying genetic issue?

I have had gene testing by two different companies, and know that I have some life challenges of my own built into my genes. But learning about the potential of gene therapy gave me reason for hope.

There are already genetic therapies that are approved by the FDA for blind patients. Other genetic treatments will be coming online soon. We have been making advances with mice in research studies, and translating that into human clinical trials has now begun. Would you want to get involved in the early stages of genetic testing? Or would you rather wait until its safety and effectiveness is proven? We won’t make progress without patients who are willing to volunteer and have their genes edited first. This is something that is a little sci-fi and scary to comprehend. It takes a special person to go first in these types of situations, yet the scientists I spoke with say the trials are being closely monitored for safety and efficacy. One major challenge is that viruses are often used in gene replacement therapy to introduce the proper genes into the body. If a patient has previously been exposed to the virus, the new gene will be attacked by the body’s immune system and the treatment won’t work. If the therapy works, the virus is now in their body and it will not be a future option as a delivery system if the gene mutation returns or is not fully corrected."

Finding that Goldilocks zone for each patient will continue to be a challenge.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy, PALB2-var and endometriosis. Barby is a chronic pain educator, patient advocate, and president of the International Pain Foundation. She is also a motivational speaker and best-selling author on rare and pain topics. More information about Barby can be found at her website.  The information in this article should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represents the author’s opinions alone. It does not inherently express or reflect the views, opinions and/or positions of the publisher.

Series 1: Painful Rare Diseases

As a way to raise awareness around rare diseases, Dante Labs has decided to create a series of blogs to give people a higher understanding of several rare conditions. 

There are thousands of known rare diseases and every year science makes moves and discovers more of them. Since most of them are related to mutations in a person’s DNA, genetic testing has become one of the most powerful ways for detecting a rare disease.

The pain is strictly related to the disease: some of them are extremely painful, others less. The personalized medicine allowed by genetic testing gives hope on treatments and ways to manage also the most painful of them all.

Advantages of getting the Whole Genome Sequencing for Painful Rare Diseases

Genetic tests for people with painful rare diseases were far from routine as they used to be limited and too expensive. Whole Genome Sequencing is changing the scenario, as it is comprehensive and gives better chances to yield diagnostics results, change lives. They are not intended to diagnose painful rare diseases — no known mutation leads to the condition every time -  but results can substantially alter the course of treatments or prevention.

• Genetic testing provides insight into the bigger picture
  It will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you.
• Individualized treatment 
  People with a specific genetic mutation will produce better responses and more effective therapies.
• For families
  It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.
• For the entire community
  It helps you to find the right way forward. Beyond benefits for the individual, sequencing exomes may be the only way scientists can uncover the full list of mutations related to autism. Understanding the connection between Autism and genetics can help us understand how the disease develops and ultimately how it can be treated or cured.

Dante Labs will offer its continued support: Whole Genome Sequencing and Whole GenomeZ at 50% off using DAZZLE4RARE discount code.

Together is better!

(Barby Ingle @BarbyIngle on Twitter, @internationalpainfoundation on IG, iPainFoundation on Facebook)