General Information
What is “genetics” and why is it important to study?
Genetics is the science of genes and heredity, or how certain traits are passed on in families. While not every disease is caused by inherited genes, nearly all diseases are related to genetics. At the CNG we are interested in identifying genetic changes called repeat expansion mutations that are common to many neurodegenerative disorders.
Are genetics responsible for all neurodegenerative disorders?
Not necessarily. Each of the diseases we study has a different level of heritability and some diseases like ALS appear mostly in people who do not have a family history of the disease. You can use these links to learn more about the role of genes in the diseases we study:
What does “heritability” mean?
Heritability means the ability to be inherited. When a genetic disease or disorder is inherited, it means that it is present when a person is born, and it was passed on from one or both biological parents.
What is a genetic mutation?
Basically, mutations are changes or errors that occur in a DNA sequence. Some DNA errors prevent cells from creating the healthy proteins that can affect health in many different ways.
Are DNA and genes the same thing?
No. DNA is made of molecules called nucleotides that are the inherited material in all cells. Genes are made of DNA and some genes work like an instruction guide for the production of proteins in cells.
Clinical Trials
What is a Clinical Trial?
Clinical trials are a type of research that test ways to prevent, detect, or treat disease and are at the heart of all medical advances. Clinical trials are conducted in phases and are considered the only real way to prove whether a medical approach works and is safe for patients. Clinical trial participation, especially in the diseases we study at the CNG, can provide important advances in our knowledge and may help to identify possible treatments for neurodegenerative diseases. Watch the video below to learn about clinical trials.
Still curious about the clinical trial process? Click the NIH links below to find more information on:
What are the four phases of clinical trials?
Why participate in a clinical trial?
Why are older and diverse participants important in clinical research?
What happens when a clinical trial or study ends?
Questions to ask before participating in a clinical trial.
What if I’m not eligible for an active CNG trial or study?
Feel free to use clinicaltrials.gov to find a trial or study that’s suitable for you. Trials and studies are a critical step in bringing life-saving treatments to those in need. Even if the trial is not with or through the CNG, we applaud every patient who makes the decision to contribute to science and so to the broader community!
Biospecimen Banking Program
What is a biospecimen banking program?
A biospecimen is a sample of material such as blood, skin, muscle or other bodily fluids that are used in research. A banking program is like a library where the specimens are stored and made available for scientists to study. At the CNG Banking Program, we store biospecimens from people who have agreed to participate in research and are diagnosed with diseases we study.
For what types of diseases do you accept biospecimens?
We are primarily interested in spinocerebellar ataxia (SCA), amyotrophic lateral sclerosis (ALS), myotonic dystrophy (DM), and some other genetic neurological disorders.
I know someone who has a neurodegenerative disease you study and I want to help. Do you need biospecimens from healthy people?
Yes! It is very important for researchers to have the ability to study the differences between healthy participants’ specimens and those of someone with a diagnosed disease. This is especially true if you are directly related to a person who is participating in our bank or in one of our research studies. If you are interested in participating, contact our research coordinator.
What types of biospecimens does the CNG collect?
Depending upon the type of disease, we collect blood, skin, muscle, other bodily fluids and brain tissue for our research.
How does my blood or tissue donation help research?
Probably one of the most exciting things about donated specimens are the many important ways in which they can be used and shared within research communities. For instance, a tube of blood can go a long way to moving science forward because it can be used to test and retest scientific experiments, and additional stored samples can be used to build on previous results.
If I donate blood or tissue will any research results be returned to me?
In general, participation in our banking program and donation of blood or tissue will not result in you receiving research results because we do not conduct research on individual samples. Rather, specimens are utilized to learn about neurodegenerative diseases as a whole.
Generally, samples are grouped by genetically similar diseases and have tests run in panels, or groups. This ensures that results are standardized and reproducible. However, during this process, samples are stripped of identifying data. Therefore, it is extremely difficult to go back, re-identify samples and relay information back to families. Additionally, study results take a long time to translate to clinical solutions. Ultimately, the value of your samples lies in their ability to have many, many tests run on them. While you may not know if your samples were used in a cure, you can rest assured knowing that your contribution has helped the entire research community move medical knowledge and potential treatments forward.
Brain Donation Program
Why consider brain donation?
Brain tissue donation is important for many reasons. Examining the brain after death is the only way to verify a clinical diagnosis of a neurodegenerative or memory disorder. Additionally, brain tissue provides valuable information to the scientists who work to understand these neurological diseases.
For what types of diseases do you accept brain tissue?
We are primarily interested in spinocerebellar ataxia (SCA), amyotrophic lateral sclerosis (ALS), myotonic dystrophy (DM) and some other neurodegenerative diseases.
How does donating my brain really help research?
The generous gift of brain donation helps researchers to learn about changes caused by disease. Brain tissue in particular is essential for scientific experiments that are conducted with the goal of determining the effectiveness of possible therapies and treatments.
One of the most exciting aspects of our collaboration with the National Ataxia Foundation is the commitment we have made to share deidentified brain tissue sections with approved research scientists and centers across the globe. Unlike many other forms of scientific research, this model of sharing supports the goal of decreasing the time it can take to learn about these diseases with the hope of identifying effective treatments. Because of this special partnership, your donation of brain tissue is a way to contribute to the science and understanding of neurodegenerative diseases for many years to come.
If I donate my brain will any research results be returned to my family?
In general, participation in our brain banking program will not result in your family receiving personalized research results. Making strides in this area of research is done by comparing groups of tissues and is powered by the number of individual specimens we have to work with. They are utilized by disease group (rather than by individual samples) to learn about specific diseases and genetically similar diseases as a whole.
Ultimately, the value of your tissue donation lies in the ability to have many, many tests run on them. While your family may not know if your samples were used in finding a treatment or a cure, you can rest assured knowing that your contribution will help the entire research community move medical knowledge and potential treatments forward.
How can I help?
We hope that many people who understand the importance of scientific research are able to support future efforts by agreeing to donate their brain after they die. The gift of brain donation can effectively assist researchers around the world to learn more about diseases that currently have no cure or treatment.
Will brain tissue donation conflict with my religious beliefs?
The gift of donation enjoys broad support among many religions in the U.S. The decision to become a brain donor is a deeply personal one. We suggest consulting with your faith leader if you have questions about your religion in regard to donation.
What does it cost?
There are no costs to the family associated with the donation above and beyond what they make for their final arrangements.
Can I still have an open-casket funeral?
Yes. Donating brain tissue for diagnosis and research leaves no disfigurement.
What happens if I agree to this but change my mind before I die?
All research participation, not matter what type, allows you to change your mind at any time. You do not need to provide a reason, only to contact us to let us know of your decision.
Does UF have a brain donation program for other diseases?
Yes! Contact us and we can refer you to an applicable program.
Do you need brain tissue from healthy people and/or relatives?
Yes! It is very important for researchers to have the ability to study the differences between samples from healthy participants as well as those with a diagnosed disease. This is especially true if you are directly related to a person who is participating in our bank or in one of our research studies.