https://www.als.org/research/als-research-topics/genetics
The ALS Association has made significant investments into identifying the underlying genetic causes of the disease. This support led to the landmark discoveries of the SOD1 gene mutations in 1993 and C9orf72 in 2011, the most common gene associated with ALS. Since then, multiple large, global "big data" initiatives supported by the

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909825/
Genetics of Als. Evidence from clinical and basic research suggests multiple causes of ALS, with important but varied genetic components. Up to 10% of ALS affected individuals have at least one other affected family member and are defined as having familial ALS (fALS); almost all of these cases have been found to be inherited in an autosomal dominant manner (Kirby et al., 2016).

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932579/
The phenotypic spectrum of amyotrophic lateral sclerosis (ALS) genetics. (A) Forty-six ALS-related genes are arrayed along axes that depict two major phenotypic aspects: the extent to which corticospinal versus lower motor neurons are involved (y-axis) and the overlap with frontotemporal dementia (FTD) (x-axis).The diameters of each gene approximate their relative frequencies.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053097/
The first genetic cause of ALS was identified in 1993 through linkage analysis to the Chr21 marker DS21S223. Subsequent analysis of the nearby gene, ... ALS genetics is having a significant impact on our understanding of the disease and the mechanisms implicated in neurodegeneration. The majority of genes encode proteins involved in RNA

https://www.nature.com/articles/s41576-023-00592-y
Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has

https://www.ninds.nih.gov/health-information/disorders/amyotrophic-lateral-sclerosis-als
Amyotrophic lateral sclerosis (ALS), formerly known as Lou Gehrig's disease, is a neurological disorder that affects motor neurons, the nerve cells in the brain and spinal cord that control voluntary muscle movement and breathing. As motor neurons degenerate and die, they stop sending messages to the muscles, which causes the muscles to weaken

https://pubmed.ncbi.nlm.nih.gov/32931756/
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss of motor neurons from the brain and spinal cord. The ALS community has made remarkable strides over three decades by identifying novel familial mutations, generating animal models, elucidating molecular mechanisms, and ultimately developing promising

https://www.nature.com/articles/s10038-022-01055-8
With the paradigm shift in therapeutic development, we must debate ethical issues, such as genetic diagnosis, in sporadic ALS. Because of the impact on the patient and the family, genetic

https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022
Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), known as ALS, is a nervous system disease that affects nerve cells in the brain and spinal cord. ALS causes loss of muscle control. The disease gets worse over time. ALS is often called Lou Gehrig's disease after the baseball player who was diagnosed with it.

http://web.alsa.org/site/PageServer?pagename=ALSA_Genetics_ALS
Overview Summary. ALS can be inherited. But in 90 percent of cases it appears in people with no family history of the disease. The first gene to be found that is linked to ALS is that coding for an enzyme, copper-zinc superoxide dismutase (SOD1). Known mutations in SOD1 account for about 2 percent of all cases of ALS.

https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(21)00589-2/fulltext
Various genetic and environmental risk factors have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). Despite this, the cause of most ALS cases remains obscure. In this review, we describe the current evidence implicating genetic and environmental factors in motor neuron degeneration. While the risk exerted by many environmental factors may appear small, their effect

https://pubmed.ncbi.nlm.nih.gov/28270533/
Abstract. Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disorder of motor neurons that overlaps clinically with frontotemporal dementia (FTD). Investigations of the 10% of ALS cases that are transmitted as dominant traits have revealed numerous gene mutations and variants that either cause these disorders

https://www.nature.com/articles/s41573-022-00612-2
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of motor neurons. As with all major neurodegenerative disorders, development of disease-modifying therapies has

https://www.verywellhealth.com/is-als-genetic-6944774
The vast majority of ALS cases are sporadic, meaning that the condition occurs randomly and without any knowns risk factors or family history of ALS. About 5-10% of all ALS cases are genetic or "familial." This means that the person inherits the disease from a parent. Familial ALS usually only requires one parent to carry the disease-causing

https://www.als.org/understanding-als/who-gets-als/genetic-testing
Genetic testing looks for changes, also called mutations, in your DNA. When these mutations occur in specific genes, they can cause ALS or increase your risk of developing the disease.. With advances in technology and the development of gene-targeted therapies, knowing whether your ALS has an underlying genetic cause - and if so, identifying the disease-causing mutation - has become more

https://www.nih.gov/news-events/news-releases/scientists-identify-genes-linked-brain-cell-loss-als
The team also explored how glial cells are affected by ALS. Glia are support cells that normally keep neurons healthy, but in ALS they can become dysfunctional and damage neurons, often accelerating their demise. Researchers analyzed genetic data from two kinds of glial cells and found genes related to cellular stress and inflammation.

https://academic.oup.com/brain/article/145/12/4440/6694277
Introduction. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, primarily affecting upper and lower motor neurons, 1 with a lifetime risk of 1 in 300 people. 2 The median survival is 30 months from symptom onset, with death typically resulting from neuromuscular respiratory failure. Onset is usually later in life, with the mean age of onset in population studies being 65

https://www.bbc.com/future/article/20230825-the-mystery-of-why-some-people-develop-als
The most common is C9orf72 which is involved in regulation of nerve and muscle cells. The changed gene is found in 30% of ALS cases. In 20% of cases, the fault in is the SOD1 gene, which codes for

https://als.ca/research/genehub/
The ALS Society of Canada (ALS Canada) is committed to a future where anyone living with ALS, or with a known genetic risk of ALS, understands how genetics may impact them. We aim to provide accurate and relevant information, as well as pathways to action for those who wish to access genetic care. This will be a multi-pronged approach that

https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2019.01310/full
Introduction. Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by degenerative changes in both upper and lower motor neurons (Rowland and Shneider, 2001).Onset typically occurs in late middle life and presents as a relentlessly progressive muscle atrophy and weakness, with the effects on respiratory muscles limiting survival to 2-4 years after disease onset

https://jmg.bmj.com/content/early/2024/06/17/jmg-2024-109909
Background Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterised by progressive degeneration of motor neurons. Genetic factors have a substantial impact on ALS. Therefore, this study aimed to explore the correlation between genotype ( SOD1, TARDBP, FUS, C9orf72 ) and phenotype in ALS. Methods Genetic analysis was performed on 2038 patients with ALS

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606529/
Introduction. Considerable progress has been made in unravelling the complex molecular mechanisms underlying Amyotrophic Lateral Sclerosis (ALS). 1 Nevertheless, it is not easy to gauge the impact of these genetic advances across the ALS space. Estimates of mutation carrier rate among ALS patients seen in specialist centres may be skewed due to referral bias. 2 3 This knowledge gap hinders

https://www.als.org/navigating-als/resources/familial-amyotrophic-lateral-sclerosis-fals-and-genetic
Genetic testing for one gene usually costs $500 - $1500. When the genetic mutation in a family is already known, the cost to test for the familial mutation is usually around $400. Genetic testing is not always covered by insurance. Check with your insurance company about any out of pocket expense prior to testing.

https://alsnetwork.org/understanding-als/genetic-testing-for-als/
However, only about 5% of all patients with ALS will have a genetic change. Those patients with ALS without a family history can also be offered genetic testing but it is extremely important that it is offered in the context of genetic counseling or discussion with a neurologist about the implication of finding a mutation, as a mutation would

https://www.nature.com/articles/s43587-024-00640-0
Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease with survival limited to 2-5 years from onset, the most common motor neuron disease in aging and the neurodegenerative disease with

https://www.smithsonianmag.com/smart-news/move-over-genghis-khan-many-other-men-left-huge-genetic-legacies-180954052/
Large genetic legacies are not confined to that part of the globe. According to a 2006 study in the American Journal of Human Genetics , 1 in 12 Irishmen worldwide can trace their heritage back to

https://news.mit.edu/2024/charmed-collaboration-creates-therapy-candidate-fatal-prion-diseases-0627
The genetic code for a CHARM that gets delivered to a cell will keep producing copies of the CHARM indefinitely. However, after the prion protein gene is switched off, there is no benefit to this, only more time for side effects to develop, so they tweaked the tool so that after it turns off the prion protein gene, it then turns itself off.

https://humanmedicine.msu.edu/news/2024-Spartan-Family-Malls-Generosity-Brings-Genetic-Autism-Expert-to-MSU.aspx
This convergence of knowledge, partnerships and philanthropy uniquely positions the College of Human Medicine to positively impact genetic autism research. Other MSU assets include the college's statewide partnerships with 13 community hospitals, and a national database housed at MSU containing over 30 years of data.

https://www.aamc.org/news/not-all-cancer-needs-be-cured-five-ways-prostate-cancer-treatments-have-improved
The evolution of surgery by robotic arms (controlled by a surgeon) is among an array of technological and procedural advances. 3-D images give doctors precise information about the boundaries of tumors. Genetic analysis helps doctors assess which treatments a patient will respond to best.

https://www.als.org/navigating-als/resources/familial-als-resource-booklet
Meeting with a genetic counselor involves taking a detailed medical and family history, evaluating risks, and discussing the impact of genetic testing. A genetic counselor can help you work through the pros and cons of genetic testing based on your concerns and values. Genetic counseling does not always lead to genetic testing.