Breaking Research News: Largest Ever Study of Inherited ALS Identifies New ALS Gene NEK1

[UPDATED AUGUST 8, 2016]:  On August 16, co-leader for the U.S. arm of Project MinE, Dr. John Landers joins Project MinE co-founder Dr. Leonard van den Berg for a Webinar overview of the exciting discovery of NEK1. Mark your calendars today!


[UPDATED JULY 26, 2016]: Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. For answers to the most common questions, please visit our NEK1 Questions and Answers post.


Today researchers from Project MinE, a large, international ‘big data’ initiative funded by The ALS Association through ALS Ice Bucket Challenge donations*, shared the exciting news that they have identified a new gene, NEK1, that ranks among the most common genes that contribute to ALS.

It is known that 10 percent of ALS cases are familial, meaning genes are inherited from a family member. The other 90 percent of ALS cases are sporadic, or without a family history. It is very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases. The discovery of NEK1 – which is present in both sporadic AND familial ALS – gives scientists an exciting new target for drug development.

About NEK1

From previous studies, we know that NEK1 functions in multiple roles in neurons (i.e. cells of the brain) including maintaining the neuron’s cytoskeleton, which gives it its shape and promotes transport of molecules within it. It also has roles in regulating the membrane of the mitochondrion, which is the machine that supplies energy to neurons and helps repair DNA that was damaged within. Importantly, all of these cell functions have been found to contribute to ALS in some way and represent potential drug targets. With today’s announcement, we can confirm the association between mutations in NEK1 and ALS.

Project MinE

Project MinE was founded in 2011 by Robbert Jan Stuit and Bernard Muller, two entrepreneurs living with ALS. As of today, Project MinE has achieved 35 percent of its goal to sequence the genomes of 22,500 people – 15,000 people living with ALS and 7,500 people without the disease. It is the first and largest genome sequencing effort to date,  involving 16 countries in a collaborative effort to discover new genes. The concept behind Project MinE is simple: donations contribute directly to DNA sequencing. For example, a donation of $2000 allows for one person’s whole genome to be sequenced.

In the wake of the ALS Ice Bucket Challenge in 2014, The ALS Association proudly contributed $1 million dollars to Project MinE to help spur the U.S. arm of this global initiative, led by Dr. John Landers at University of Massachusetts Medical School and Dr. Jonathan Glass at Emory University. The ALS Ice Bucket Challenge enabled The ALS Association to invest in Project MinE’s work to create large biorepositories to store ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.

Next Steps

The discovery of NEK1 highlights the value of ‘big data’ in ALS research. The sophisticated gene analysis that led to this finding is only possible because of the large number of ALS samples collected and made available by researchers by Project MinE. In fact, this discovery was a combined effort of over 80 researchers in 11 countries, including the U.S.

Now the next steps are to understand the role of NEK1 in ALS disease. Researchers funded by The ALS Association – using your generous donations – are already making steps towards this by developing novel NEK1 mouse models that will be shared with the entire ALS community. Sharing information is essential to drug discovery in that multiple researchers can all research NEK1 at the same time to uncover potential drug targets.

The discovery of NEK1 through Project MinE’s large, global collaborative effort is a perfect example of how every drop adds up. With this successful ‘big data’ model in hand, be sure to look out for more gene discoveries out of Project MinE in the near future. Together, we will find a treatment and a cure for ALS.

— Lucie Bruijn, Ph.D., M.B.A., Chief Scientist of The ALS Association.

*Funding for Project MinE also came through The ALS Association Georgia Chapter, The ALS Association Greater New York Chapter and New Amsterdam City Swim.

61 comments

  1. Is there testing to find out if you have this gene? My mother died 7 years ago from als, and it has always been in the back of my mind, “am I a part of that 10%”

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    1. Meegan, Thank you for your comment.I share the same thoughts .If you get any reply ,I would appreciate if you will share it with me. .Thank you,Bente.

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    2. I would like to know this too. My sister died of ALS 7 years ago.
      Her older son just passed away 3 weeks ago from ALS. He was only 49 years old. I am concerned about his children, a son and a daughter.
      Their other grandma died of ALS as well 5 years ago.

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      1. I am so sorry to hear about the ALS in your family.Sure hope the new studies willl help the other member of you family.

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    3. There is a genetic gene blood test that can be taken to determine if yoh have the common gene. Insurance doesnt cover it And it can bd costly.. Upwards of 2-3 hundred.
      My father has ALS and I was asked by University of Penn to take test. At first I thought about it then I didn’t. Heres why, if I do have the gene there is no guarantee I will get ALS because of it. If I am going to get it, I don’t want to spend every day wondering when it will start and if every ach and pain is that starting. Personally, I do not want to just be “waiting” there is nothing to prevent it abd I want to live my life as I would wether I may het it or not… I may die in a car accident and waste presious time.
      Its a personal choice and I wish you the best whatever you decide. Having to or to see a loved one go through this is horrible

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      1. My dad died of ALS last year. The docs asked me to get tested too. I totally agree with you and your reasons. I refused to test.

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    4. My mother has it right now , it’s in the back and front of my mind daily, no one else in the family has ever had this@ so I’m to wonder if this is familia or Sporadic ! Do I really want to know , it’s just torture!!!!

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      1. I am no clinician but a health care professional of 30+ yrs. Consider that 90% is sporadic. In my wife’s case, where there were no history of neuromuscular disease, her ALS diagnosis was at least in a significant part due to misdiagnosed multiple tick borne disease which advanced undetected for years. We live in PA & vacationed in NC when we perceived the “bite” to have happened.

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    5. My godmother, my sister mother died of Al’s in 1990, my mother did in 2000 of als, my brother died June 30 of als. I have no doubt I carry the gene. Ed Rooney

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    6. Hi, my maternal grandmother and my mother have passed away from ALS. I don’t want to be the bearer of bad news, but the ALS association at IU told me directly that if you have a parent that had ALS you have a 50/50 chance. Each child has a 50/50 chance. My grandmother was 59 when she died, it took her in 6 months. My mother was 47, it took 7 months. I am so sorry for all of us that live in the balance, just live your lives to the fullest and know that in the end you will be saved in Christ.

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  2. My father past in 2012. He was missed diagnosed for over a year, then past in less then 3 month’s. Is it true that the daughter’s are more likely to carry this gene? If so how can I be tested for it?

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  3. I would appreciate knowing if there is a test for this gene. My father and my sister both died of ALS. I hope to be able to know if this gene has been passed through me to my children.

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  4. Will the same testing and results apply to PLS? – My wife has PLS for at least 5 years – as PLS is slow progressing, it is still in the same family. Could there be some benefit here as well as ALS. John R, husband of wife with PLS.

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  5. Have any of you guys listed above received a reply, I would like to know as I am in the same situation. My Dad passed away in 1981, as did his sister a few years after. Their father passed away around 1940. At that time they thought it was a stroke, but after seeing the symptoms exhibited by my dad, the three older sisters suspected that was the same thing their father had.

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  6. This is only good news for 10% of the ALS population, what of the 90% with sporadic ALS?? What happened to the “Greater Good”?? I’m finding it difficult to be happy about research that myself & the majority will never benefit from. It’s like dangling by a thin thread over a pool of lava & no one throws you a lifeline. It’s not acceptable…

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      1. For those of us that have had a family member diagnosed with ALS can we enter a trial or study? If not, how would we go about being tested?

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      2. My Father died 5 years ago from ALS. In March, my Mother was diagnosed. We have been told that they are only one of three cases documented in the United States. I have a younger brother. Should we be tested?

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    1. It’s likely that even those of us with sporatic als can be helped through these advancements in understanding and drug development. There is always a good bid that genetic tendencies could be partly responsible for sporatic als.

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    2. I agree with you! I have the sporadic kind. I did have DNA testing to find out that I dont have familial so Im glad I cant pass it to my kids.

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      1. How did a DNS test help
        You find out??? My husband has ALS no one in his family has every had it however I a so worried about or daughter so please tell me
        The information

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    3. No so sure about that. Might be a little misrepresentation on their part unless they identified the exact gene responsible in both cases, that is a speculative statement at best on their part. Just trying to give you more hope.

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    4. I agree Patricia. My wife’s etiology of her “ALS” was at least in part explained by missed tick borne disease. > 90% of ALS is sporadic & currently made by a diagnosis of exclusion. Not real scientifiction.

      Am I a little bitter? Perhaps. I am not a doctor but was pushing for Lyme as being involved. Guess what? Two + yrs went by before it and other tick-borne borne diseases were determined to be present!

      I am sick & tired of the intense controversy in every aspect of lyme: prevalence, testing protocol, treatment protocol, etc.

      Drs need to quit being lead like a bull with a ring in their nose. What happened to the “art” of practicing medicine.

      For anyone interested in researching a “possible” connection, and I can’t emphasize possible enough….
      Google tick borne disease pioneers. Look for initials R.H. MD, in Hyde Park, NY. Perhaps one of the most brilliant minds in a field which may hold some answers for folks given this or a similar diagnosis with no suspected origin, and with little or no hope/no where to turn. Best wishes

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  7. To all those wanting to know about a test, there is one to see if you are carrying the gene. It doesn’t tell you if the gene will be expressed, but you’d at least know if it is a potential danger for you and your children. Ask your doctor and they can refer you to a specialist for testing. It runs in my family and I am planning on taking the test once I have enough money.

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  8. I was told that Duke ALS center is working on getting funding for the genetic testing. We go to clinic the end of Aug. Will post then what I find out. My husband was diagnosed in 98 and we have been waiting all these years to test our now adult kids You might want to keep checking with your ALS clinic. It has to come sometime. I think here it is $1200. But don’t quote me and I really don’t know how specific the results are. But I WILL check for you all

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    1. My father died in 2000 my grandfather died in 1983 two of paternal aunt’s died one in 1986 and the other 1987 I have had cousins that has past away with it the last one 24 months ago. I have been diagnosed with it and have lived with it now since 2002 ..My great grandfather died from a mysterious illness more then likely it was Als…too..so if you need a family that needs to be researched it should be mine..it has struck both male and female young and old..please someone reach out to me Shannon Taylor my email is Momcrazy2b@Aol.com my number is 703 470 6057…

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  9. I lost my mother two years ago to ALS. She was only 48 and it was so terrible watching her suffer the way she did. No one else in my family has had it that I know of but I would be willing to give any samples needed for research. Please contact me if there is any way I can help. Thank you!

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  10. My husband’s grandmother passed away from sporadic ALS in 2010. I have often wondered if my husband and my children could one day develop the disease. However, I’m not sure that I would want them tested even if there was a test readily available. My reasons are 1) there is no cure, so I don’t feel there is a benefit in knowing before symptoms express themselves and 2) it would likely impact life and health insurance policy rates (I have a sibling who is ineligible for life insurance for a genetic disorder). If there is a counterargument to my first reason, I would be interested in hearing it.

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    1. I guess this is my answer to my husband not being able to get life insurance… His dad died from als. We applied for life insurance but was turned down because of our family health history… Fun times huh???

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  11. My husband has ALS and he had genetic testing for his family. They now know they don’t have to worry. My husband was in the Navy for 24 years and veterans are twice as likely to be diagnosed with ALS and they have no idea why. The test was $250.

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  12. mi esposa murio mayo 17 2016 2 anos and 7 meses very hard no hay cura ban amorir tarde o temprano no podemos hacer nada no hay medesina que cure el als sorry

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  13. My wife has had ALS for 4 years. ALS assoc. has given us a grant 1 time for $1000. For which I am thankful. Any idea what the burden costs families? Research, millions of dollars? How does that help my family pay for care currently? It don’t. People that donated to the “ice bucket” challenge, don’t even know what the hell ALS is. Don’t believe me, just ask them. WE NEED cash for private care nurses because the State laws prohibit nursing homes to force feed and hydrate patients that do not want stomach tubes. We are helpless and hopeless. The families currently living with this need help!!! Now not 50 years from now. Any ideas?

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    1. This isn’t a lot of help….but you can submit expenses of 750.00 every quarter to your closest ALS chapter and they will refund you. Talk to a rep from your clinic or call the ALS assoc to find your closest one. Also you can check thru MDA to ask for assistance to try to get some help. You also are qualified thru social security no matter what age your wife is. We had the same problem for years until the VA recognized ALS as a possible result from toxic exposure while serving in the military. That was our saving grace. Just a thought. It might also help if you or a close friend or family member created a Go Fund Me Page and have your friends pass it along on Facebook. Don’t ever think that there is no one out there that would help

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  14. My DTR passed away with Al’s In Nov 2016.She took care of friend she worked with. There has to be a connection. Environmental or a contagion. She was so healthy . knew no other diseases. She was so afraid of Al’s, there has tone connection there.

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    1. Jane this is the second time I have heard of a caregiver actually getting ALS after taking care of someone with ALS. I am a little worried about this. My husband has ALS. I just can’t figure out why no one can find any connections and every person is s different.

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  15. This latest discovery is very promising. It’s been a heck of a journey for me and my wife. At first, the doctor had me tested for a stroke. Then after a barrage of tests, I was diagnosed with the onset of ALS since I am relatively young. Finally, the neurologist diagnosed me with PLS instead. I am not sure if my condition is sporadic or familial. No one in my family had ALS but my grandfather and his uncle had Parkinson. Since it’s a brain disease, I don’t know if I should still get the genetic testing to find out if my kids could have NEK1.

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  16. my brother died of this – he got the 1 where it affects the breathing- he put his tube out after his 70 th birthday-if there is trail or something i would like to sign up

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  17. My husband has this awful disease,I wish there was some way we could afford the cost of carers then he could come home for whatever time he has left

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  18. Yes, there is one test I know of for the C9ORF72 gene. As NEK1 is so new, quick testing might be a few months away.
    The breakthrough in 2012 (when my mother had it) of finding the C9ORF72 filled in the gaps of up to 45 percent of people with Familial ALS.
    Caution though, this is a chromosome that we all have, found in everybody ; when it “repeats” hundreds or thousands of times, showing up in various parts of the genome sequence, that is the indicator that the disease “may present” or express itself and develop into ALS
    When I tried to get tested for C9ORF72 it was difficult because they had not figured out the best way to accurately test; therefore expect that to happen here with this newly discovered NEK1 gene – it may take awhile but we will have a testing procedure soon.

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  19. The geneticist that confirmed my father’s familial ALS, told my 3 siblings and I that she would test us for the gene at a lower cost. I believe she said around $200 each. In my opinion, there’s no sense in me being tested because there is no cure and there is nothing to slow the progression of ALS. Why would I want to live my life worrying about when the symptoms will begin. Although, it doesn’t seem like there will be a cure in my father’s lifetime, I pray there is for my children.

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