Decade of Results...the Best is Yet to Come!

 

October is Rett Syndrome Awareness Month - it is our time to make a difference! For most parents, the day they are diagnosed is the first time they have heard of Rett syndrome.  Most of the public and even some in the medical profession are largely unfamiliar with Rett syndrome. Together, we can change that!  Every October we focus on  spreading the story of Rett syndrome a bit further.  

 Click on each of words below to see how you can engage in October Awareness

      

 


 Transform...to create positive change

Your voice is powerful!  Use your social media presence to transform the world. 

 

 October Awareness State Proclamations 

         

Social Media for October Awareness   

         

Create your Perfect Profile Picture

 

Click HERE for details on obtaining a proclamation for your state

#Thisisrett

#ThisisRett is all about showing friends, families, and everyone what Rett syndrome really is.

Share #thisisrett with us on Instagram and Facebook.  

 

#transformrett    #empowerrett   #acceleraterettresearch  #pursuingacure   

 

 

 

 


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Empower...to strengthen

Empowerment & strength give you confidence to transform your world.  We believe education is an important empowerment tool.  Educate yourself to better understand the things you read about research.  The article below is a great place to start.

 

Questions to Ask When Reading About Research

Question 

(click to view full answer)

       Brief Answer
Why is the language in research papers so confusing?    The terms, abbreviations, and scientific language used are vital to the scientific community for replicating purposes.
What is replication and why is it important?    Replication is repeating a research experiment EXACTLY as it was originally done to establish the reliability of a finding
Why is so much time spent on animal studies?            Animal studies are essential and time consuming because they establish required safety parameters which must be determined before human trials can occur.
Does the study need to involve female mice?    Yes.        
How many participants does a valid clinical trial  need?                                                                                  A clinical trial needs enough participants to make the study statistically acceptable to the Food and Drug Administration (FDA). 
How do I interpret the conclusions in a paper?   

Interpreting research results is complicated, and we should all be careful not to jump to conclusions and over interpret.   

What is the risk associated with over interpreting research results? 

  Over interpreting creates false expectations and leads to frustration when expected results do not come quickly.
How do I interpret findings of “genetic reversal” in mice for Rett syndrome?    Carefully – make sure you understand what the researchers mean when they say “reversal”.
What are realistic expectations about the status of Rett syndrome research?   Incredible strides have been made at an unprecedented pace and we believe the best is yet to come.

 

 


Accelerate...to increase momentum

Our research momentum is a powerful force leading the way to groundbreaking results in treatments and therapies.  Our research strategy is designed to accelerate results.  The graphic and video below help you understand how all of the areas work together.

 

 


Pursue...to relentlessly move forward

Moving forward despite the obstacles.  That defines the spirit of our researchers.  Watch Steve Kaminsky, Ph.D.  talk about his pursuit of treatments and a cure for  Rett syndrome.

What is Rettsyndrome.org's Research Strategy?   



 

 Full Spectrum Research allows us to attack Rett syndrome on all fronts:  Biochemical, Neurological and Genetic. 

The complexity of Rett syndrome, demands we not only correct the biology but that we correct the neurology as well.   During the early years, a child with Rett syndrome unfortunately misses many developmental milestones.  The brain must be trained or habilitated to learn those essential functions that it did not learn earlier.

By conducting research to correct both biology and neurology, we can combine pharmaceutical treatments with best practices in neuro-habilitation therapy, leading to the fastest way to improve the quality of life for those suffering with Rett syndrome.

We continue to employ our full spectrum research strategy as the only proven strategy with tangible results.

 

 

 


Anticipate... to expectantly hope

Looking at where we have been, where we are now, and where we anticipate being, will encourage us along our journey.

Click HERE to view the full timeline

 


Believe...to know your truth

We are so grateful for our parents who belive in us and what we can do for their child!     

 

"As parents of a newly diagnosed one year old, we were given renewed hope when we read about the promising research trials on drugs like trofinetide and IGF-1.  RSO has been vital to our getting through these first few months as they have opened up a wonderful support network to us. We are looking forward to finding out ways our daughter, Leah, can help others by raising awareness and funds to support the great work of this organization."  Lindsay, mom to Leah, age 1

 

“With our daughter being newly diagnosed, Rettsyndrome.org and their contributions to research have given us hope. We are very optimistic of treatment options for Kate in the near future!”  Jennifer, mom to Kate, age 4

 

“Gabby participated in one of the clinical medication trials this past year.  It was an exciting experience and we are hoping she will again be able to participate in a future trial.  The strides that Rett Syndrome research has taken are truly amazing!! We are so hopeful that one day Gabby will be able to say "thank you" to all those who have supported the research and are dedicated to finding a cure!! “ Jody, mom to Gabby, age 10

 

"I am very thankful that Rettsyndrome.org has taken such a strong leadership role with advancing research. They have the vision and the drive to achieve their goals which benefits all families in the end.  Their progress to get trofinetide to market is very exciting as it could finally be an answer to relieving some of Jill's daily struggles."  Lisa, mom to Jill, age 19


Questions to Ask When Reading About Research

 

 Why is the language in research papers so confusing?

The terms, abbreviations, and scientific language used are vital to the scientific community for replicating purposes.

It is important to remember that the primary audience for research papers is other researchers.  The terms, abbreviations, and scientific language used are vital to the scientific community for replicating purposes. Visit https://www.elsevier.com/connect/infographic-how-to-read-a-scientific-paper for a guide on how to read scientific papers.

 

What is replication and why is it important?

Replication is repeating a research experiment EXACTLY as it was originally done to establish the reliability of a finding.

Research experiments must be repeated multiple times before a finding can be considered “well-established”.   Researchers replicate it to see if a finding is dependable or just a fluke.

 

Why is so much time spent on animal studies?

Animal studies are essential and time consuming because they establish required safety parameters which must be determined before human trials can occur.

Small animal studies are an essential part of research that moves potential pharmacological compounds toward clinical trials.  Rett syndrome research uses mice for testing because they are economical, their genetics closely resemble humans and are well understood by researchers, making it easier to analyze changes in their symptoms. Ninety five percent of all lab animals are mice and rats, according to the Foundation for Biomedical Research.

We do not consider this  “lost” time, but rather it is time spent ensuring that the drug has the best possible chance of having an effect on the disease and the lowest possible chance of causing harm.

 

Does the study need to involve female mice?

 Yes.

 In 2011 a group of scientists recommended that Rett syndrome translational research should:

  • be conducted in more than one Rett mouse model
  • be conducted in female Rett mice, the “medically relevant model” for this predominantly female disorder

Rettsyndrome.org values these recommendations and asks funded researchers to always include female mice in their translational research studies.  For more detailed information about these recommendations, please read more at www.ncbi.nlm.nig.gov/pmc/articles/PMC3484856

 

How many participants does a valid clinical trial need?

 A clinical trial needs enough participants to make the study statistically acceptable to the Food and Drug Administration (FDA). 

The number of participants is usually determined by both researchers and the FDA. Each phase of trials has a different number of patients needed to make it significant in the eyes of the FDA.  Rough estimates are: Phase I trial 10-20 healthy volunteers, Phase II trial 20-80 patients with RTT, and Phase III 100 – 400 patients with RTT.

 

How do I interpret the conclusions in a paper?

Interpreting research results is complicated, and we should all be careful not to jump to conclusions and over interpret. 

For example, when hearing about the discovery of a gene that is responsible for a disorder, the science community knows this is just the beginning of intense research to understand the role of the gene in the disorder.  However, the general public sees it as an indication that a “cure is around the corner”.  In 1988, the gene for cystic fibrosis was discovered and today researchers are still working to identify treatments for cystic fibrosis. 

 

What is the risk associated with over interpreting research results?

Over interpreting creates false expectations and leads to frustration when expected results do not come quickly.

To give false hope is wrong, and we need to make sure that results and conclusions accurately express what we can expect going forward.  Over interpreting or making bold and unproven statements only hurts us all as we move forward.

 

How do I interpret findings of “genetic reversal” in mice for Rett syndrome?

Carefully – make sure you understand what the researchers mean when they say “reversal”.

When a genetic “reversal” is demonstrated in a mouse study, for any disorder, it can be over interpreted to mean that a cure is close.  Often, genetic “reversals” in mice are actually genetic manipulations that are impossible in humans.  A genetic reversal in mice is just an indicator that genetic intervention may provide a way to correct some of the biology associated with a particular disorder. 

Gene therapy is often discussed but is still in its very early stages. For more information on Gene Therapy in Rett syndrome, please read our Gene Therapy Blog.

 

What are realistic expectations about the status of Rett syndrome research?

Incredible strides have been made at an unprecedented pace and we believe the best is yet to come.

Rettsyndrome.org continues to support research across all four areas of our full spectrum research strategy.  Discoveries from basic science are more quickly being validated in translational research. Our Scout Program is allowing more compounds from basic research in Rett syndrome and from research in other neurological disorders to be screened for effectiveness in Rett syndrome. We have more potential treatments in various phases of clinical trials today than at any other time in the history of Rett syndrome research. The realistic hope is that treatments will reach the bedside for those with Rett syndrome of all ages.  When approved medications are combined with our advances in neuro-habilitation therapies, we will have a multi-faceted treatment/cure for Rett syndrome.