The guide to
Genetics, family history, and Alzheimer’s
Understanding genetic risk
Dementia and family history
Testing, prevention and what’s next
narration
Genetics & Alzheimer’s: What the science says
Alzheimer’s is a complex disease with connections to both “nurture” and “nature”:
- Only ~5% of Alzheimer’s cases are attributed specifically to genetics.
- ~95% of cases involve multiple factors, genetics but also lifestyle, environmental factors, parallel health conditions, and more.
What we know about Alzheimer’s risk and genetic variants
Protective genes
‘‘The Alzheimer's gene’’
Early-onset genes
narration
Read more
Limited diversity, limited data
To date, most genetic studies have focused on non-Hispanic, white, male populations, limiting scientists’ understanding of why Alzheimer’s starts and how it progresses in other racial, ethnic, and gender groups.
“We make a lot of assumptions on the basis of data and results found in non-Hispanic white people and also in men. I think, historically, that has maybe been an aspect of convenience and availability — but to the detriment of our understanding of disease and all people.”
Astrid M. Suchy-Dicey
Associate Professor at University of Washington Medicine
narration
Understanding ApoE4, the ‘‘Alzheimer’s Gene’’
Everyone inherits a version of the ApoE gene from each parent. In white populations, science shows E4 is the version linked to higher Alzheimer’s risk:
Carrying one copy of E4 can increase risk of developing Alzheimer’s 2-3x
Carrying two copies (one from each parent) can raise risk up to 12x
In people of color, more research is needed. One study in Native Americans found no significant association between E4 and cognitive decline.
Being an ApoE4 carrier does not mean you will develop Alzheimer’s: Many people with E4 never develop Alzheimer’s, and some people without E4 still do.
narration
Read more
Real stories from people living with genetic risk
Kim & Robert Reid
Kimberly was diagnosed with Alzheimer’s at age 52. Both of her grandmothers likely had Alzheimer’s, but they were never diagnosed due to healthcare barriers for the Black community.
Andres Martin
Carries a rare Jalisco gene, that causes early-onset familial Alzheimer’s, impacting families from Jalisco, Mexico. He advocates for research involvement to give scientists a greater chance to develop ways to help younger generations.
Michele Castro
After learning she carries the PSEN1 gene, Michele Castro is speaking out about genetic testing and Alzheimer's awareness in hopes of a brighter future for her children and grandchildren.
narration
Read more
Systemic inequities in healthcare
Latinos
Certain groups face greater Alzheimer’s risk yet encounter systemic barriers when it comes to healthcare:
Black Americans
Discrimination at the doctor’s office adversely affects access to diagnosis and care. Research shows the vast majority of people of color experience discrimination or being dismissed by healthcare providers.
narration
An expert discusses genetic testing
“The main thing I’ve learned and tried to transmit in my work is that preparation is key. You have to think about whether the testing is right for you. The first is, do you have a family history? Is there some reason that you might be at higher risk? The second is, will the information you get from the tests be of value to you?...The ApoE4 test is what I’m talking about. You don’t get a yes or no answer. You get a risk, a probability, and that probability changes over time. The third thing people should think about is the timing, right?...It’s probably not a good time to have genetic testing if you have other concerns or pressures in your life...”
Dr. Doris Zallen
Read more
Professor and genetic testing expert at Virginia Tech
narration
Lifestyle changes that lower Alzheimer's risk
Research shows science-backed, brain-healthy lifestyle changes can make a difference, even if you carry high-risk genes.
Learn more
- Studies like U.S. POINTER show that diet, exercise, sleep, and social engagement can lower Alzheimer's risk.
- The FINGER-MET and other global studies look at how combining lifestyle and medication may prevent or delay Alzheimer’s.
“I needed to figure out a way to break the generational cycle of dementia in my family… The hope is all in our hands.”
Phyllis Jones, U.S. POINTER study participant
Read more
narration
Image source: skin test: DISCERN™ Lumbar puncture: InlandImaging AI tools: RealResearch Retinal scan: JoVE Journal
What’s next in genetics research?
Considering Alzheimer’s disease’s genetic links, scientists are exploring targeted therapies to address familial Alzheimer’s through our DNA. For people who carry the ApoE4 variant, doctors and scientists recommend science-backed healthy lifestyle modifications, as well as monitoring for early signs of cognitive decline.
Gene therapy
Stem cell therapy
narration
Steps forward: Community and health equity
Minority racial groups face limited access to genetic testing, counseling, and education. Alzheimer’s researchers want to see clinical trial opportunities be made more accessible to communities of color.
“Maybe the doctors who are providing care are not aware of [a clinical trial] opportunity — or the doctors that are participating in that research are not offering it to everyone. Diversity is important to make sure that the diagnostic tools that we use, the treatments we develop, are efficacious for all.”
Dr. Monica Parker
Read more
Emory University’s Goizueta Alzheimer’s Disease Research Center
narration
beingpatient.com
Explore more resources on
Learn more about Alzheimer’s and genetics on Being Patient:
narration
Want to learn more?
Visit
beingpatient.com
for the latest news and information on brain health and Alzheimer's disease
narration
Scientists are also exploring the use of stem cells in Alzheimer’s research. Although is already available in some places, experts say it is highly unregulated, lacks evidence, and could even be dangerous.
stem cell therapy
“When people mention Alzheimer’s, a picture pops into your mind, typically of an older white person. But when you look at statistics, you learn that more Black and Hispanics are affected by the disease than white people. I would tell others to get a good understanding of the disease and your medical history, if you can. Don’t be afraid to advocate for yourself and speak up.” - Robert Reid, Kim’s husband and caregiver
READ MORE
While some genes increase Alzheimer’s risk, other genes appear to be protective, lowering risk. Scientists are studying the protective powers of a gene called , which appears to counteract the effects of ApoE4.
FN1
Early-onset Alzheimer’s can be directly inherited through rarer variants like PSEN1, PSEN2, and APP.
Researchers are studying whether editing or delivering protective could prevent Alzheimer’s.
genes
“I have been asked if I plan to have more kids knowing that they each have a 50% chance to carry the mutation. I have an amazing wife and daughter, amazing friends, and I got to fulfill my dream to become a naval aviator. I’m one of the few people that has done that in the world. If my mom and dad knew about this disease and didn’t have me, I wouldn’t have been able [to experience any of this]. [But] if my kids have to deal with this disease like I am, science has failed completely.”
READ MORE
“Within our community, a lot of people don’t want to get tested. The Hispanic community is very loving, caring, but they can also be very private. We don’t want people to know our business. It’s a difference, and I’m not going to bundle everybody into that circle. But, the older generation, that’s kind of the mindset… I don’t know how to change that. All I can do is continue to talk about it.”
READ MORE
2x
as likely to develop Alzheimer's than white Americans.
However, this group is massively underrepresented in clinical trials (only ~8% of participants).
1.5x
more likely to develop the disease, yet:
As few as 4% of participants in recent Alzheimer’s disease-modifying drug trials were Latino.
In white populations, studies show that a genetic variant called ApoE4 raises risk of late-onset Alzheimer’s (the most common form of the disease).
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Transcript
The guide to
Genetics, family history, and Alzheimer’s
Understanding genetic risk
Dementia and family history
Testing, prevention and what’s next
narration
Genetics & Alzheimer’s: What the science says
Alzheimer’s is a complex disease with connections to both “nurture” and “nature”:
What we know about Alzheimer’s risk and genetic variants
Protective genes
‘‘The Alzheimer's gene’’
Early-onset genes
narration
Read more
Limited diversity, limited data
To date, most genetic studies have focused on non-Hispanic, white, male populations, limiting scientists’ understanding of why Alzheimer’s starts and how it progresses in other racial, ethnic, and gender groups.
“We make a lot of assumptions on the basis of data and results found in non-Hispanic white people and also in men. I think, historically, that has maybe been an aspect of convenience and availability — but to the detriment of our understanding of disease and all people.”
Astrid M. Suchy-Dicey
Associate Professor at University of Washington Medicine
narration
Understanding ApoE4, the ‘‘Alzheimer’s Gene’’
Everyone inherits a version of the ApoE gene from each parent. In white populations, science shows E4 is the version linked to higher Alzheimer’s risk:
Carrying one copy of E4 can increase risk of developing Alzheimer’s 2-3x
Carrying two copies (one from each parent) can raise risk up to 12x
In people of color, more research is needed. One study in Native Americans found no significant association between E4 and cognitive decline.
Being an ApoE4 carrier does not mean you will develop Alzheimer’s: Many people with E4 never develop Alzheimer’s, and some people without E4 still do.
narration
Read more
Real stories from people living with genetic risk
Kim & Robert Reid
Kimberly was diagnosed with Alzheimer’s at age 52. Both of her grandmothers likely had Alzheimer’s, but they were never diagnosed due to healthcare barriers for the Black community.
Andres Martin
Carries a rare Jalisco gene, that causes early-onset familial Alzheimer’s, impacting families from Jalisco, Mexico. He advocates for research involvement to give scientists a greater chance to develop ways to help younger generations.
Michele Castro
After learning she carries the PSEN1 gene, Michele Castro is speaking out about genetic testing and Alzheimer's awareness in hopes of a brighter future for her children and grandchildren.
narration
Read more
Systemic inequities in healthcare
Latinos
Certain groups face greater Alzheimer’s risk yet encounter systemic barriers when it comes to healthcare:
Black Americans
Discrimination at the doctor’s office adversely affects access to diagnosis and care. Research shows the vast majority of people of color experience discrimination or being dismissed by healthcare providers.
narration
An expert discusses genetic testing
“The main thing I’ve learned and tried to transmit in my work is that preparation is key. You have to think about whether the testing is right for you. The first is, do you have a family history? Is there some reason that you might be at higher risk? The second is, will the information you get from the tests be of value to you?...The ApoE4 test is what I’m talking about. You don’t get a yes or no answer. You get a risk, a probability, and that probability changes over time. The third thing people should think about is the timing, right?...It’s probably not a good time to have genetic testing if you have other concerns or pressures in your life...”
Dr. Doris Zallen
Read more
Professor and genetic testing expert at Virginia Tech
narration
Lifestyle changes that lower Alzheimer's risk
Research shows science-backed, brain-healthy lifestyle changes can make a difference, even if you carry high-risk genes.
Learn more
“I needed to figure out a way to break the generational cycle of dementia in my family… The hope is all in our hands.”
Phyllis Jones, U.S. POINTER study participant
Read more
narration
Image source: skin test: DISCERN™ Lumbar puncture: InlandImaging AI tools: RealResearch Retinal scan: JoVE Journal
What’s next in genetics research?
Considering Alzheimer’s disease’s genetic links, scientists are exploring targeted therapies to address familial Alzheimer’s through our DNA. For people who carry the ApoE4 variant, doctors and scientists recommend science-backed healthy lifestyle modifications, as well as monitoring for early signs of cognitive decline.
Gene therapy
Stem cell therapy
narration
Steps forward: Community and health equity
Minority racial groups face limited access to genetic testing, counseling, and education. Alzheimer’s researchers want to see clinical trial opportunities be made more accessible to communities of color.
“Maybe the doctors who are providing care are not aware of [a clinical trial] opportunity — or the doctors that are participating in that research are not offering it to everyone. Diversity is important to make sure that the diagnostic tools that we use, the treatments we develop, are efficacious for all.”
Dr. Monica Parker
Read more
Emory University’s Goizueta Alzheimer’s Disease Research Center
narration
beingpatient.com
Explore more resources on
Learn more about Alzheimer’s and genetics on Being Patient:
narration
Want to learn more?
Visit
beingpatient.com
for the latest news and information on brain health and Alzheimer's disease
narration
Scientists are also exploring the use of stem cells in Alzheimer’s research. Although is already available in some places, experts say it is highly unregulated, lacks evidence, and could even be dangerous.
stem cell therapy
“When people mention Alzheimer’s, a picture pops into your mind, typically of an older white person. But when you look at statistics, you learn that more Black and Hispanics are affected by the disease than white people. I would tell others to get a good understanding of the disease and your medical history, if you can. Don’t be afraid to advocate for yourself and speak up.” - Robert Reid, Kim’s husband and caregiver
READ MORE
While some genes increase Alzheimer’s risk, other genes appear to be protective, lowering risk. Scientists are studying the protective powers of a gene called , which appears to counteract the effects of ApoE4.
FN1
Early-onset Alzheimer’s can be directly inherited through rarer variants like PSEN1, PSEN2, and APP.
Researchers are studying whether editing or delivering protective could prevent Alzheimer’s.
genes
“I have been asked if I plan to have more kids knowing that they each have a 50% chance to carry the mutation. I have an amazing wife and daughter, amazing friends, and I got to fulfill my dream to become a naval aviator. I’m one of the few people that has done that in the world. If my mom and dad knew about this disease and didn’t have me, I wouldn’t have been able [to experience any of this]. [But] if my kids have to deal with this disease like I am, science has failed completely.”
READ MORE
“Within our community, a lot of people don’t want to get tested. The Hispanic community is very loving, caring, but they can also be very private. We don’t want people to know our business. It’s a difference, and I’m not going to bundle everybody into that circle. But, the older generation, that’s kind of the mindset… I don’t know how to change that. All I can do is continue to talk about it.”
READ MORE
2x
as likely to develop Alzheimer's than white Americans.
However, this group is massively underrepresented in clinical trials (only ~8% of participants).
1.5x
more likely to develop the disease, yet:
As few as 4% of participants in recent Alzheimer’s disease-modifying drug trials were Latino.
In white populations, studies show that a genetic variant called ApoE4 raises risk of late-onset Alzheimer’s (the most common form of the disease).