Materiały źródłowe

• #1 Orphanet: Tay-Sachs disease

  https://www.orpha.net/en/disease/detail/845

  The prevalence of the disease is 1 case per 320 000 live births. It is more common in the Ashkenazi Jewish and French-Canadian populations. […] A summary on this disease is available in Franais, Logo ERN Espaol, Logo ERN Deutsch, Italiano, Portugus, Logo ERN Nederlands, Logo ERN Polski.

• #2 Tay-Sachs disease

  https://www.redalyc.org/journal/5763/576366816018/html/

  TSD is rarely found in the general population, with an estimated prevalence of 1 per 220 000-320 000 individuals, while the carrier frequency in the general population is approximately 1:300. […] Parental consanguinity is a risk factor for the manifestation of this autosomal recessive genetic disease, which explains why there are population groups that may show mutations in the HexA gene at higher allelic frequencies, such as the Ashkenazi Jews, whose frequency of carrier is estimated at 1:30. […] Because the TSD rate is higher among Jews, it is important to clarify that this community is not only found in Israel, where 44% of the population is of this ethnicity, since the remaining 56% is distributed in different countries such as the United States (39.3%), France (3.1%), Canada (2.7%) and United Kingdom (2.0%).

• #3

  https://www.omim.org/entry/272800

  Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years. […] Tay-Sachs disease is approximately 100 times more common in infants of Ashkenazi Jewish ancestry (central-eastern Europe) than in non-Jewish infants. […] The incidence of 1 in 3,900 births among Jewish persons […] The incidence of 1 in 320,000 births among non-Jewish persons.

• #4 Tay-Sachs Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK564432/

  Tay-Sachs disease is rare in the general population, and the incidence is about 1 in 100,000 live births in the United States (US), whereas the carrier frequency is about 1 in 250. The disease is more frequent in the people of Ashkenazi Jewish heritage. Epidemiological studies on carrier states in the Jewish community in the US showed a prevalence of about 1 in 29 and 1 in 3500 live births affected by Tay-Sachs disease. A Cajun community in Louisiana, an old-order Amish community in Pennsylvania, and non-Jewish French Canadians living near St Lawrence also have a high incidence of Tay-Sachs disease. […] Accurate diagnosis is essential for proper management and reducing complications associated with the disease.

• #5 Tay-Sachs Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/29887

  Tay-Sachs disease is rare in the general population, and the incidence is about 1 in 100,000 live births in the United States (US), whereas the carrier frequency is about 1 in 250. […] The disease is more frequent in the people of Ashkenazi Jewish heritage. Epidemiological studies on carrier states in the Jewish community in the US showed a prevalence of about 1 in 29 and 1 in 3500 live births affected by Tay-Sachs disease. […] A Cajun community in Louisiana, an old-order Amish community in Pennsylvania, and non-Jewish French Canadians living near St Lawrence also have a high incidence of Tay-Sachs disease.

• #6 Tay–Sachs disease – Wikipedia

  https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

  Ashkenazi Jews have a high incidence of TaySachs and other lipid storage diseases. In the United States, about 1 in 27 to 1 in 30 Ashkenazi Jews is a recessive carrier. The disease incidence is about 1 in every 3,500 newborns among Ashkenazi Jews. […] French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Irish Americans have a 1 in 50 chance of being a carrier. […] In the general population, the incidence of carriers as heterozygotes is about 1 in 300. The incidence is approximately 1 in 320,000 newborns in the general population in the United States. […] Three general classes of theories have been proposed to explain the high frequency of TaySachs carriers in the Ashkenazi Jewish population: Heterozygote advantage, Reproductive compensation, and Founder effect.

• #7 Tay-Sachs disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/tay-sachs-disease-2?lang=us

  The incidence of the disease is estimated to be 1 in 3,600 in Ashkenazi Jews with a carrier frequency of 1 in 30 and 1 in 360,000 in other populations with a carrier frequency of 1 in 300. Tay-Sachs disease is the most frequently occurring sphingolipidosis. […] Screening for Tay-Sachs disease is recommended for people in high-risk groups. This includes people of Ashkenazi Jewish descent and anyone with a history of the condition in their family.

• #8 Tay-Sachs Disease | SpringerLink

  https://link.springer.com/10.1007/978-1-4614-6430-3_225-2

  Tay-Sachs disease is a hereditary neurodegenerative disorder resulting from excess storage of GM2 ganglioside within the lysosomes of cells, caused by deficiency of hexosaminidase A. The incidence of the disease is estimated to be 1 in 3,600 in Ashkenazi Jews (AJ) with carrier frequency of 1 in 30 and 1 in 360,000 in other population with carrier frequency of 1 in 300. […] Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. […] Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. […] Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience. […] Tay-Sachs disease: Current perspectives from Australia.

• #9 Tay-Sachs Disease (VIII.137) – The Cambridge World History of Human Disease

  https://www.cambridge.org/core/books/cambridge-world-history-of-human-disease/taysachs-disease/1F20EA0E4E6738533642BDB87E92CBC5

  Tay-Sachs disease (TSD) is very rare in most populations, but is, overall, about 100 times more prevalent among Ashkenazi Jews. […] This indicates that the TSD gene frequency is about 10 times higher in the Ashkenazi Jewish population. […] D. Slome (1933) was the first to survey the literature on the population characteristics of TSD and confirmed the diseases autosomal recessive mode of transmission as well as the TSD genes higher frequency among Jews. […] Myrianthopoulos, N. C., and Aronson, S. M.. 1972. Population dynamics of TaySachs disease. II. What confers the selective advantage upon the Jewish heterozygote? […] Myrianthopoulos, N. C., Naylor, A. F., and Aronson, S. M.. 1970. TaySachs disease is probably not increasing.

• #10 Tay-Sachs disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/tay-sachs-disease/

  Tay-Sachs disease is very rare in the general population. The genetic variants (also known as mutations) that cause this disease are more frequently found in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. However, increased education and genetic testing efforts in these at-risk communities have reduced the incidence of this condition in those populations. […] The variants responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.

• #11 Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease

  Studies estimate that approximately 1 in 300 people carry the genetic variant (mutation) responsible for Tay-Sachs disease. But the actual number of children born with Tay-Sachs disease is low, making the condition rare. Awareness, education and genetic testing help reduce the frequency of this condition among at-risk populations. […] A child is more at risk of developing Tay-Sachs disease if both of their biological parents carry the genetic variant. Anyone can be a carrier of the genetic variant. The condition is more common among people of French-Canadian, Eastern European or Ashkenazi Jewish descent, where approximately 1 in 30 people carry the genetic variant.

• #12 Tay-Sachs disease: Causes, symptoms, diagnosis, and more

  https://www.medicalnewstoday.com/articles/tay-sachs-disease

  Tay-Sachs disease is rare, as an estimated 5,000 individuals in the United States have it, according to the National Center for Advancing Translational Sciences. […] In the general population, per the National Library of Medicine (NLM), it affects approximately 1 in 1,000,000 live births, and the carrier frequency is 1 in 250. A carrier is a person who does not have the condition but can pass it on to their children. […] People groups with a higher prevalence include: Ashkenazi Jewish heritage, which denotes the Jewish population of Central or Eastern European ancestry; The Old Order Amish community in Pennsylvania; Cajun community in Louisiana; non-Jewish French Canadians who live near the St. Lawrence River. […] Anyone who belongs to any one of these groups may have a higher risk of developing this condition.

• #13 Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/tay-sachs-disease-testing

  Individuals of French Canadian descent may benefit from targeted Tay-Sachs screening. […] Screening for Tay-Sachs carrier status should be performed for individuals from high-risk populations, especially those of Ashkenazi Jewish or French Canadian descent. […] Incidence varies by ethnicity: 1/3,000 in individuals of Ashkenazi Jewish, French Canadian, and Cajun descent; 1/300,000 for the general population. […] This assay detects the 7.6kb deletion at a reduced sensitivity. Therefore, individuals of French Canadian descent may benefit from targeted screening; refer to the Laboratory Test Directory for available test options.

• #14 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Tay-Sachs-Disease.aspx

  Tay-Sachs disease is a rare disease. […] The American neurologist Bernard Sachs of Mount Sinai Hospital who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887. […] A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. […] TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

• #15 Hexosaminidase A deficiency | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/hexosaminidase-a-deficiency/

  The incidence of classic Tay-Sachs disease in the population is 1 in 320,000 births. It is more common among individuals of Ashkenazi Jewish, French-Canadian, Louisiana Cajun, and Pennsylvania Amish descent. […] The incidence of other forms of Tay-Sachs disease is unknown.

• #16 Cure Tay-Sachs Foundation – Tay-Sachs Disease Statistics

  https://www.curetay-sachs.org/tay-sachs-disease/carrier-statistics/

  The groups most at risk are eastern Europeans of (Ashkenazi) Jewish decent, French Canadian living near the St. Lawrence River and Louisiana Cajuns. The next highest at risk population is people of Irish-American decent. In the US alone there are over 1.2 million Tay-Sachs carriers and the vast majority of those people have never heard of the disease. […] Since there is currently no treatment or cure for Tay-Sachs disease, it is important that couples in high risk groups undergo genetic testing to determine if they are carriers.

• #17 Tay-Sachs disease

  https://www.redalyc.org/journal/5763/576366816018/html/

  TSD is rarely found in the general population, with an estimated prevalence of 1 per 220 000-320 000 individuals, while the carrier frequency in the general population is approximately 1:300. […] Parental consanguinity is a risk factor for the manifestation of this autosomal recessive genetic disease, which explains why there are population groups that may show mutations in the HexA gene at higher allelic frequencies, such as the Ashkenazi Jews, whose frequency of carrier is estimated at 1:30. […] Because the TSD rate is higher among Jews, it is important to clarify that this community is not only found in Israel, where 44% of the population is of this ethnicity, since the remaining 56% is distributed in different countries such as the United States (39.3%), France (3.1%), Canada (2.7%) and United Kingdom (2.0%).

• #18 Tay-Sachs Disease – CAGS

  https://cags.org.ae/en/ctga-details/243/tay-sachs-disease

  Epidemiology in the Arab World […] The Centre for Arab Genomic Studies Work Group (2006) in a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006 identified a 9-month-old Egyptian girl heterozygous for the disease. […] Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among 82 patients, only one child was diagnosed with Tay Sachs disease. […] The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006. Only one case of Tay-Sachs disease was observed in a 1-year-old Syrian boy. […] In a study by Al-Jasmi et al. (2013) on lysosomal disorders in the UAE, Seven patients with Tay Sachs disease were identified. Three of these patients were Emiratis, giving a birth prevalence of 0.74 per 100,000 for Emiratis. […] The Centre for Arab Genomic Studies Work Group (2006) in a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006 identified a 25-day-old Yemeni girl heterozygous for the disease.

• #19 Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye – Medical Journal of Bakirkoy

  https://bakirkoymedj.org/articles/clinical-and-molecular-findings-of-nine-cases-with-tay-sachs-disease-from-turkiye/doi/BMJ.galenos.2023.2022.9-10

  Our study both reassessed and expanded the known mutation spectrum of Tay-Sachs disease in Turkiye. […] Given the expanding horizon of newborn screening and population carrier testing, understanding the spectrum of population-specific disease-causing variants will facilitate early diagnosis of patients and carriers. […] The estimated incidence of TSD in Ashkenazi Jews was 1 in 3,600 compared to 1 in 360,000 in other populations, with carrier frequencies of 1 in 30 in Ashkenazi Jews and 1 in 300 in non-Jews, respectively. […] For our country, the incidence of TSD was calculated as 0.23 per 100,000. […] As in all autosomal recessive diseases, the incidence of this disease increases in places where consanguineous marriage is common. […] According to recent studies, the prevalence of consanguineous marriages in Trkiye is highest in the Southern Anatolian Region (44.8%) and least in the West Marmara Region (6.4%).

• #20 SciELO Brazil – The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier scre

  https://www.scielo.br/j/spmj/a/HLkR8z3f9wnw3tQQM3P35wn/

  The carrier frequency of the main mutations causing Tay-Sachs disease in senior students of Jewish high schools was 1/51. The corrected carrier frequency of Tay-Sachs disease in the Ashkenazi Jewish fraction of the sample was 1/33, similar to that in Ashkenazi Jewish populations of other countries. The voluntary participation rate in a pilot screening program of Tay-Sachs disease in Jewish high schools between the years 1998 and 2000 was 70%. […] Based on the efficiency of screening programs for Tay-Sachs disease in alerting carrier couples and decreasing the disease incidence in other countries, a similar program should be implemented for the Brazilian Jewish population.

• #21 Tay–Sachs disease – Wikipedia

  https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

  TaySachs disease was one of the first genetic disorders for which epidemiology was studied using molecular data. Studies of TaySachs mutations using new molecular techniques such as linkage disequilibrium and coalescence analysis have brought an emerging consensus among researchers supporting the founder effect theory.

• #22 The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11164463/

  Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. […] The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

• #23 Tay-Sachs disease

  https://www.redalyc.org/journal/5763/576366816018/html/

  The most advanced genetic testing technologies comprise a greater number of disorders than the previous recommendations, with an approximate number of 19, including TSD. […] This screening has been associated with a 90% reduction in the incidence of the disease in populations that have been intervened, mainly in the USA, Israel and Canada. […] TSD is an autosomal recessive neurodegenerative disorder caused by the deficiency of the lysosomal enzyme -hexosaminidase A (HexA), which result in the accumulation of GM2 gangliosides mainly in neurons. It has an estimated prevalence of 1 per 220 000 individuals and patients usually die before 5 years of age.

• #24 SciELO Brazil – The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier scre

  https://www.scielo.br/j/spmj/a/HLkR8z3f9wnw3tQQM3P35wn/

  Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. […] The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

• #25 Tay-Sachs disease – Knowledge and References – Taylor & Francis

  https://taylorandfrancis.com/knowledge/Medicine_and_healthcare/Medical_genetics/Tay-Sachs_disease/

  The prototypical successful carrier screening program is Tay-Sachs disease (TSD) carrier screening in Ashkenazi Jewish (AJ) communities. TSD screening programs were developed in collaboration with Ashkenazi Jewish communities, included strong educational and counseling components, and adapted screening strategies to the needs of the target population. […] Tay-Sachs disease in Jews of Eastern European descent.

• #26 About Tay-Sachs Disease

  https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease

  Tay-Sachs disease is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. […] While anyone can be a carrier of Tay-Sachs, the incidence of the disease is significantly higher among people of eastern European (Ashkenazi) Jewish descent. Approximately one in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene. Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs. For the general population, about one in 250 people are carriers. […] Extensive carrier testing of Ashkenazi Jews has significantly reduced the number of Tay-Sachs children in this population group. Today most cases of Tay-Sachs disease occur in populations thought not to be at high risk.

• #27 Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye – Medical Journal of Bakirkoy

  https://bakirkoymedj.org/articles/clinical-and-molecular-findings-of-nine-cases-with-tay-sachs-disease-from-turkiye/doi/BMJ.galenos.2023.2022.9-10

  Considering the families with a family history of TSD, the total number of confirmed cases of TSD in nine families was 12. […] Although the diagnosis is made by the enzyme level, carriers of childbearing age can be detected only in the family by clarifying the molecular pathogenesis. […] In this case series, although four families had children with TSD before, they did not prefer prenatal diagnosis or preimplantation diagnosis. […] The definitive diagnosis of TSD in a clinically affected individual is established by demonstrating low HEXA activity and/or biallelic HEXA gene mutations.

• #28 Frontiers | Therapeutic Strategies For Tay-Sachs Disease

  https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2022.906647/full

  Tay-Sachs disease (TSD) is an autosomal recessive disease that features progressive neurodegenerative presentations. It affects one in 100,000 live births. Currently, there is no approved therapy or cure. […] TSD is a congenital, autosomal recessive, neurodegenerative disease caused by mutations in the hexosaminidase A (HEXA) gene. It has an incidence rate of about one in 100,000 live births with a carrier frequency of about one in 250. However, the incidence rate is higher in certain founder groups such as the Ashkenazi Jewish population and those of Eastern European descent among others. […] Diagnostic criteria for TSD include assessment of neurological signs and symptoms—specifically utilizing CT and MRI scans to measure cerebral white matter and basal ganglia hypodensity. […] The TSD clinical spectrum is delineated into three main types of TSD based on symptom severity and age of onset of disease.

• #29 Tay-Sachs disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001417.htm

  Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. […] Anyone can be a carrier of the Tay-Sachs gene. But, the disease is most common among people with Ashkenazi Jewish ancestry, where 1 in every 27 people carries the Tay-Sachs gene. […] There is no known way to prevent this disorder once someone is born. Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner is from an at-risk population, you may wish to seek genetic counseling before starting a family. […] If you are already pregnant, testing the amniotic fluid can diagnose Tay-Sachs disease in the womb.

• #30 Tay-Sachs disease – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/tay-sachs-disease/

  As of September 2016, there are about 20 studies that are associated with Tay-Sachs disease listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not an exhaustive list of current research. Current studies are looking at a natural history study on the disorder, gene therapy, hematopoietic stem cell transplantation as a potential therapy, and different medications that may be used to treat Tay-Sachs disease. […] Tay-Sachs disease is classified as a lysosomal storage disease. Lysosomal storage diseases are those in which there is a buildup of toxic material in lysosomes. […] Tay-Sachs disease is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family.

• #31 Tay Sachs Disease Pipeline Insight Analysis Report: Recent

  https://www.globenewswire.com/news-release/2025/03/17/3043846/28124/en/Tay-Sachs-Disease-Pipeline-Insight-Analysis-Report-Recent-Advancements-Focus-on-Targeted-Therapies-and-Personalized-Medicine-to-Improve-Patient-Outcomes.html

  Tay-Sachs disease is a fatal genetic disorder resulting from a deficiency in the enzyme hexosaminidase A. This deficiency leads to the accumulation of GM2 ganglioside in neurons, causing progressive neurological damage. Symptoms include developmental delays, muscle weakness, vision and hearing loss, and severe neurological impairment. Recent advancements focus on enzyme replacement and gene therapies to address the underlying genetic cause and improve patient outcomes. […] Recent advancements focus on targeted therapies and personalized medicine to improve patient outcomes by addressing the specific molecular and genetic characteristics of the disease. […] Regulatory agencies are encouraging the development of novel Tay-Sachs treatments by providing incentives such as fast-track designations and priority reviews. This support is crucial for facilitating quicker access to new and effective therapies for patients, addressing the urgent need for better treatment options in this challenging condition.

• #32 Tay-Sachs Disease: Symptoms, Causes, Treatment

  https://resources.healthgrades.com/right-care/brain-and-nerves/tay-sachs-disease

  Tay-Sachs disease is rare, affecting about 1 in 1,000,000 live births. […] Certain groups have a higher incidence of Tay-Sachs disease. This includes: Cajun people in Louisiana, Jewish people of Ashkenazi descent, non-Jewish French-Canadian people in southeastern Quebec, Old Order Amish people in Pennsylvania. […] Genetic counseling and screening have helped reduce the prevalence of Tay-Sachs disease in communities of Jewish people of Ashkenazi descent.

• #33 Tay-Sachs Disease – Blu Genes Foundation

  https://blugenes.org/tay-sachs-disease/

  Tay-Sachs is a rare disease. In the general population, approximately 1 person in 250 is a carrier for Tay-Sachs disease. However, certain population groups have a higher incidence. In people of Ashkenazi Jewish descent, it’s estimated that 1 person in 27 is a carrier. People of Irish descent, the French Canadian community in the eastern St. Lawrence River Valley, and the Cajun community in Louisiana are among those groups identified with a higher prevalence of carriers. Nevertheless, Tay-Sachs disease is found across all racial, ethnic and religious populations worldwide. […] The availability of carrier screening and prenatal testing has decreased the incidence of Tay-Sachs disease in populations known to have a high risk for the disease. But babies with Tay-Sachs disease continue to be born to parents not known to be carriers.

• #34 Tay-Sachs_disease

  https://www.chemeurope.com/en/encyclopedia/Tay-Sachs_Disease.html

  Historically, Eastern European people of Jewish descent (Ashkenazi Jews) have a high incidence of Tay-Sachs and other lipid storage diseases. Documentation of Tay-Sachs in this Jewish population reaches back to 15th century Europe. In the United States, about 1 in 27 to 1 in 30 Ashkenazi Jews is a recessive carrier. French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Irish Americans have a 1 in 50 chance of a person being a carrier. In the general population, the incidence of carriers (heterozygotes) is about 1 in 300.[3] […] A continuing controversy is whether heterozygotes, individuals who are carriers of one copy of the gene but do not actually develop the disease, have some selective advantage. The classic case of heterozygote advantage in humans is sickle cell anemia carriers having resistance to malaria, and some researchers have argued that there must be some evolutionary benefit to being a heterozygote for Tay-Sachs as well.[27]

• #35 Tay-Sachs disease

  https://www.redalyc.org/journal/5763/576366816018/html/

  TSD is rarely found in the general population, with an estimated prevalence of 1 per 220 000-320 000 individuals, while the carrier frequency in the general population is approximately 1:300. […] Parental consanguinity is a risk factor for the manifestation of this autosomal recessive genetic disease, which explains why there are population groups that may show mutations in the HexA gene at higher allelic frequencies, such as the Ashkenazi Jews, whose frequency of carrier is estimated at 1:30. […] Because the TSD rate is higher among Jews, it is important to clarify that this community is not only found in Israel, where 44% of the population is of this ethnicity, since the remaining 56% is distributed in different countries such as the United States (39.3%), France (3.1%), Canada (2.7%) and United Kingdom (2.0%).

• #36 Tay-Sachs_disease

  https://www.chemeurope.com/en/encyclopedia/Tay-Sachs_Disease.html

  Because Tay-Sachs disease was one of the first autosomal recessive genetic disorders for which there was an enzyme assay test (prior to polymerase chain reaction testing methods), it was intensely studied as a model for all such diseases. The researchers of the 1970s often favored theories of heterozygote advantage, but failed to find much evidence for them in human populations. They were also unaware of the diversity of the Tay-Sachs mutation base. In the 1970s, complete genomes had not yet been sequenced, and researchers were unaware of the extent of polymorphism. The contribution to evolution of genetic drift (as opposed to natural selection) was not fully appreciated. […] Since the 1970s, DNA sequencing techniques using PCR have been applied to many genetic disorders, and in other human populations. Several broad genetic studies of the Ashkenazi population (not related to genetic disease) have demonstrated that the Ashkenazi Jews are the descendants of a small founder population, which may have gone through additional population bottlenecks. These studies also correlate well with historical information about Ashkenazi Jews. Thus, a preponderance of the recent studies have supported the founder effects theory.[32][33][34]

• #37 Tay-Sachs Disease Market Size, Trends and Forecast 2024-2034

  https://www.imarcgroup.com/tay-sachs-disease-market

  The 7 major Tay-Sachs disease markets are expected to exhibit a CAGR of 4.56% during 2024-2034. […] Tay-Sachs disease refers to a rare genetic disorder that primarily affects the nervous system. […] The rising incidences of DNA alterations, gene abnormalities, and chromosomal damage due to inherited disorders are primarily driving the Tay-Sachs disease market. […] The report also provides the current and future patient pool across the seven major markets. […] According to the report the United States has the largest patient pool for Tay-Sachs disease and also represents the largest market for its treatment. […] Historical, current, and future epidemiology scenario […] What is the number of prevalent cases (2018-2034) of Tay-Sachs disease across the seven major markets? […] What is the size of the Tay-Sachs disease patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of Tay-Sachs disease? […] What will be the growth rate of patients across the seven major markets?

• #38 Tay-Sachs Disease – Epidemiology Forecast to 2032

  https://www.researchandmarkets.com/reports/5525673/tay-sachs-disease-epidemiology-forecast-to-2032?srsltid=AfmBOopNIyIPphemKrABxUByjKGZPGk7SNtEjJ1UuDIWuBkTpR5TbHW7

  This „Tay-Sachs Disease – Epidemiology Forecast to 2032” report delivers an in-depth understanding of the disease, historical and forecasted Tay-Sachs Disease epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. […] The Tay-Sachs Disease epidemiology report gives a thorough understanding of the Tay-Sachs Disease by including details such as disease definition, symptoms, causes, pathophysiology, and diagnosis. […] The Tay-Sachs Disease epidemiology division provides insights about historical and current patient pool and forecasted trend for every seven major countries. […] The Tay-Sachs Disease epidemiology segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2019 to 2032.

• #39 Tay-Sachs Disease – Epidemiology Forecast to 2032

  https://www.researchandmarkets.com/reports/5525673/tay-sachs-disease-epidemiology-forecast-to-2032?srsltid=AfmBOopNIyIPphemKrABxUByjKGZPGk7SNtEjJ1UuDIWuBkTpR5TbHW7

  The Tay-Sachs Disease epidemiology covered in the report provides historical as well as forecasted Tay-Sachs Disease epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2019 to 2032. […] The report provides insight into the historical and forecasted patient pool of Tay-Sachs Disease in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan. […] The report assesses the disease risk and burden and highlights the unmet needs of Tay-Sachs Disease. […] The Tay-Sachs Disease Epidemiology Model developed by the publisher is easy to navigate, interactive with dashboards, and epidemiology based with transparent and consistent methodologies.

• #40 Frontiers | Therapeutic Strategies For Tay-Sachs Disease

  https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2022.906647/full

  For TSD, ERT remains challenging because a successful ERT must comprise of both a functional alpha and beta subunit of HexA. […] For TSD, some mutations cause misfolded HexA enzymes that are degraded quickly before the enzyme can move to the lysosome. […] Substrate reduction therapy (SRT) is a therapeutic strategy to inhibit the formation of specific substrates of a mutant enzyme that reduces the need of this enzyme to hydrolyze its substrate, resulting in a decrease in the substrate accumulation of the lysosomal storage disease. […] HSCT has been successful in several LSDs including MPS I, MPS II, and Gaucher disease type 1 and 2. […] Gene therapy utilizes viral vectors for the delivery of a functional gene to correct a genetic defect. […] The unique challenge of gene therapy for TSD is the fact that HEXA encodes one subunit of the heterodimer HexA enzyme, and needs to complex with the beta subunit, encoded by HEXB, in order to be functionally active. […] ASO development has not been explored for TSD. […] The available in vivo models of TSD include mice, rabbits, and sheep.

• #41 Tay-Sachs Disease and Sandhoff Disease – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/tay-sachs-disease-and-sandhoff-disease

  Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. Inheritance is autosomal recessive; the most common mutations are carried by 1/27 unaffected adults of Eastern European (Ashkenazi) Jewish origin, although other mutations cluster in some French-Canadian and Cajun populations. The disease develops in 25% of the children when both parents are carriers. […] In the absence of effective treatment, management is focused on screening adults of childbearing age in high-risk populations to identify carriers (by way of enzyme activity and mutation testing) combined with genetic counseling.

• #42 Tay-Sachs Disease | The Children’s Hospital at Montefiore

  https://www.cham.org/health-library/article?id=hw182975

  Tay-Sachs can occur when parents pass on a changed gene to their child. […] The changed gene that causes Tay-Sachs disease is more commonly found in people of Ashkenazi Jewish descent. About 3 out of 100 people in this population are carriers of the disease. […] If you are thinking about having a child, the American College of Obstetricians and Gynecologists (ACOG) recommends that: Both you and your partner get a screening test if you are both of Ashkenazi Jewish, French-Canadian, or Cajun descent or have a family history of the disease. If both of you test positive as carriers, genetic counseling may help you with making choices. […] Carriers of the Tay-Sachs gene changes can pass the changed gene to their children even though the carriers don’t have the disease. If both you and your partner are carriers, there is a 1-out-of-4 chance (25%) that any child you have will have Tay-Sachs disease.

• #43 Tay-Sachs disease – Knowledge and References – Taylor & Francis

  https://taylorandfrancis.com/knowledge/Medicine_and_healthcare/Medical_genetics/Tay-Sachs_disease/

  Tay-Sachs disease is a rare genetic disease that primarily affects infants of eastern European Jewish descent. It causes neurological damage and ultimately leads to death. The disease is caused by mutations in either the HEXA gene or the GM2 activator gene, which result in decreased activity of hexosaminidase A, a necessary enzyme for breaking down certain fatty substances in the body. Tay-Sachs disease is inherited in an autosomal recessive pattern. […] Tay-Sachs disease is transmitted as an autosomal recessive disease. The gene frequency in Ashkenazi Jews has been calculated to be approximately one in 30. This would predict an annual incidence of one in 4000 births with Tay-Sachs disease among parents from this population. These frequencies were so high that it became practical to undertake programs of prevention through heterozygote detection. Gene frequency in non-Jews has been calculated to be one in 300. The disease is also common in some isolates in Switzerland and in French descendants in Eastern Quebec and Southern Louisiana.

• #44 The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11164463/

  The high carrier frequency found in the Brazilian Jewish population indicates the need of a screening program for Tay-Sachs disease in Brazil like those effectively developed in other Jewish communities for over 30 years. […] The 70% participation rate shows good acceptance of the screening program by the community. This was also demonstrated by the participant’s parents rating of the program as „important”, „very important” or „essential” in 95% of the cases. […] Based on the efficiency of screening programs for Tay-Sachs disease in alerting carrier couples and decreasing the disease incidence in other countries, a similar program should be implemented for the Brazilian Jewish population.

• #45 Tay-Sachs Disease: Symptoms, Causes, Treatment, Prevention

  https://www.webmd.com/parenting/baby/what-is-tay-sachs-disease

  You can have a blood test that analyzes your genes or the levels of the Hex-A protein in your blood to tell you whether you are a Tay-Sachs carrier. […] If two people planning to have children find out that they’re both carriers, a genetic counselor can help them review the options for lowering the chances of having a baby with Tay-Sachs.

• #46 Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02637-1

  Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. […] TSD disease showed a particularly high incidence in the Ashkenazi Jewish population with a carrier frequency of approximately 1 in 25 compared to 1/250300 in most other populations. Also, the incidence of patients affected by the disease is estimated to be 1 in 3600 live births in Ashkenazi Jewish versus 1 in 360,000 in other populations worldwide. […] Population-based carrier screening programs in the United States and Canada reduce the incidence of TSD by more than 90% in these populations. […] This study is the first to uncover the HEXA mutations spectrum and correlate the -hexosaminidase-A enzyme deficiency to the underlying HEXA molecular defects in a homogeneous population of Egyptian patients with the infantile form of TSD. […] The findings of this study suggest Sanger sequencing of HEXA-exon 13, as the first screening mutational target in suspected TSD Egyptian patients.

• #47 Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-articulo-clinical-biochemical-molecular-findings-in-S2173580817301505

  Tay-Sachs disease is an autosomal recessive neurodegenerative disorder characterised by a mutation or deletion of the hexosaminidase A gene (HEXA), located at 15q23. The gene codes for the alpha subunit of hexosaminidase A, a lysosomal enzyme involved in ganglioside metabolism. […] Prevalence of the disease is estimated at 1 case per 200000 live births in the general population. However, there is a high prevalence among Ashkenazi Jews, at approximately 1 case per 4000 live births. […] Finally, Tay-Sachs disease must be included in the differential diagnosis of paediatric neurological disorders causing regression of developmental milestones. It is important to include molecular testing as part of diagnostic protocols for the disease and genetic counselling as a means to prevent familial recurrences of the disease.

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