genetics Archives - Amazing Health Advances

Breakthrough Prenatal Test Detects 250 Diseases at 9 Weeks

The AHA! Team — Wed, 12 Feb 2025 06:36:28 +0000

Abigail Klein Leichman via Israel21c – Israeli startup Identifai develops first maternal blood test to identify risk of 250 genetic diseases as early as 9th week of pregnancy, matching the results of riskier and later amniocentesis. Of the 140 million babies born worldwide each year, 6-8% are at risk for hereditary genetic diseases. Amniocentesis is considered the gold standard for detecting fetal genetic risks with high accuracy, but it is invasive, has some risks for mother and baby, and cannot be done until at least 15 weeks into the pregnancy. The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about 10 percent of known genetic disorders, including Tay-Sachs, cystic fibrosis and spinal muscular atrophy. A breakthrough blood test developed in Israel is poised to make prenatal genetic testing available earlier, noninvasively and comprehensively: It can detect the risk of 250 diseases with high accuracy. Identifai was founded in 2021 based on the research of Tel Aviv University Prof. Noam Shomron, a world expert in genetics and bioinformatics. Using artificial intelligence and machine learning, Identifai’s technology requires nothing more than a maternal blood sample. After isolating fetal DNA from maternal DNA, it does a full, rapid fetal genetic sequencing starting from just nine weeks’ gestation. The technology can detect mutations even in a single DNA base among billions, making it capable of identifying a wide range of hereditary genetic conditions. “This is a tremendous step forward,” Identifai CEO Eyal Miller tells ISRAEL21c. “If the mother is a carrier [of a genetic disease], we can do the whole genome sequencing for the fetus and provide a clinical report with a negative predictive value of more than 99%,” he explains. “This means that if results are negative, the likelihood of the fetus having [a genetic disease] is close to zero. And that gives immediate relief to the parents. On the other hand, if the results are positive, the parents know exactly what they’re dealing with,” Miller adds. “That dramatically changes the whole ecosystem from the point of view of parents, clinicians and genetic counselors. This is why we shine.” Gamechanger The Israeli technology, expected to be commercialized in the second half of 2025 following additional clinical trials in Israel and the United States, has already gained international recognition through the publication of a study conducted at Israel’s Beilinson and Meir hospitals. Chosen as the cover story of the global journal Prenatal Diagnosis last August, the study involved 18 cases where both parents were carriers of genetic diseases. Identifai’s system analyzed the mothers’ blood samples and predicted fetal risks with 100% accuracy, matching the results from amniocentesis. Identifai will soon release results from a larger study at Columbia University Medical Center in New York. “At Columbia, we came across parents who carry a rare genetic disease and they were amazed that we can provide a very simple solution very early in the process in order to give them certainty about the status of the fetus as soon as possible,” Miller says. The couple wrote to Identifai: “Our reproductive journey has been hugely impacted by the knowledge of being carriers and we hope that this kind of non-invasive testing becomes available one day in the future for families like us.” The benefits of knowing Identifai generates a report for parents and their healthcare provider, detailing the probability of the fetus carrying or developing specific genetic conditions and how they might manifest if the pregnancy continues. “Couples are aware very early if the fetus has some type of disease, which means they can make a decision about what lies ahead,” says Miller. “If you’ve decided to maintain the pregnancy, there are specific hospitals in the United States that can treat the newborn immediately once a clear diagnosis is in place.” Furthermore, Identifai needs only maternal blood for analysis, which is helpful in the many cases where the father is unavailable or unknown. “If the mother is a carrier and you can’t find the father, the only thing to do until now has been to keep your fingers crossed and pray and then do invasive amnio,” says Miller. In addition to the medical advantages of the test, Miller adds, there’s an emotional and psychological advantage because amniocentesis “causes enormous anxiety and stress” and many expectant couples don’t want it. A $6 billion market Miller says the prenatal testing market is currently valued at $6 billion annually, with NIPT tests making up half of that amount. This market is expected to grow to $19 billion by 2030. “Our ability to detect fetal risk for hundreds of genetic conditions will expand this market to hundreds of billions, including early in-utero surgeries and detection of late-stage conditions where amniocentesis is no longer an option,” he says. “Furthermore, this solution, which does not require FDA approval, will be accessible, convenient, and effective for populations worldwide who avoid amniocentesis for cultural reasons, for millions of pregnancies where the father’s identity is unknown, and in response to new US legislation limiting abortions and amniocentesis tests that might justify terminations.” Identifai has received grants from the Israel Innovation Authority and raised $6.5 million from investors including Shizim as well as eHealth Ventures, which supports early-stage digital health companies from the initial stages of R&D through capital raising, business development, commercialization, and market entry. Identifai employs 15 people in its Tel Aviv offices. Miller says a US office will be established to support clinical, marketing and operational activities in that target market. For more information, click here. To read the original article click here.

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Researchers Discover Genetic Connections to Alcohol Consumption

The AHA! Team — Fri, 14 Jun 2024 08:22:49 +0000

University of California San Diego via News-Medical – A research group centered at the University of California San Diego School of Medicine has drilled deep into a dataset of over 3 million individuals compiled by the direct-to-consumer genetics company 23andMe, Inc., and found intriguing connections between genetic factors influencing alcohol consumption and their relationship with other disorders. A research group centered at the University of California San Diego School of Medicine has drilled deep into a dataset of over 3 million individuals compiled by the direct-to-consumer genetics company 23andMe, Inc., and found intriguing connections between genetic factors influencing alcohol consumption and their relationship with other disorders. The study was recently published in the Lancet eBioMedicine. Sandra Sanchez-Roige, Ph.D., corresponding author and associate professor at UC San Diego School of Medicine Department of Psychiatry, explained that the study used genetic data to broadly classify individuals as being European, Latin American and African American. Such classifications “are needed to avoid a statistical genetics pitfall called population stratification,” noted co-author Abraham A. Palmer, Ph.D., professor and vice chair for basic research in the psychiatry department. Researchers analyzed genetic data from the 3 million 23andMe research participants The researchers analyzed genetic data from the 3 million 23andMe research participants, focusing on three specific little snippets of DNA known as single-nucleotide polymorphisms, or SNPs. Sanchez-Roige explained that variants, or alleles, of these particular SNPs are “protective” against a variety of alcohol behaviors, from excessive alcohol drinking to alcohol use disorder. One of the alcohol-protective variants they considered is very rare: the most prevalent among the three alleles found in the study showed up in 232 individuals of the 2,619,939 European cohort, 29 of the 446,646 Latin American cohort and in 7 of the 146,776 African American cohort; others are much more common. These variants affect how the body metabolizes ethanol – the intoxicating chemical in alcoholic beverages. “The people who have the minor allele variant of the SNP convert ethanol to acetaldehyde very rapidly. And that causes a lot of negative effects.” – Sandra Sanchez-Roige, Ph.D., corresponding author and associate professor at UC San Diego School of Medicine Department of Psychiatry She went on to say that the resulting nausea eclipses any pleasurable effects of alcohol – think of a bad hangover that sets in almost immediately. “These variants are primarily associated with how much someone may consume alcohol,” she said. “And they also tend to prevent alcohol use disorder, because these variants are primarily associated with the quantity of alcohol someone may drink.” Sanchez-Roige explained that the SNP variants’ influence on alcohol consumption are well researched, but her group took a “hypothesis-free” approach to the 23andMe dataset, which contains survey data on thousands of traits and behaviors. The researchers wanted to find out if the three SNP variants might have any other effects beyond alcohol consumption. Sanchez-Roige and Palmer noted that their group has developed a 10-year partnership with 23andMe that has focused on numerous traits, especially those with relevance for addiction. This work is the basis of an academic collaboration through the 23andMe Research Program. They data-mined the analyses of DNA from saliva samples submitted by consenting 23andMe research participants, as well as the responses to the surveys of health and behavior available from the 23andMe database, and found a constellation of associations, not necessarily connected with alcohol. Individuals with the alcohol-protecting alleles had generally better health, including less chronic fatigue and needing less daily assistance with daily tasks. But the paper notes individuals with the alcohol-protective alleles also had worse health outcomes in certain areas: more lifetime tobacco use, more emotional eating, more Graves’ disease and hyperthyroidism. Individuals with the alcohol-protective alleles also reported totally unexpected differences, such as more malaria, more myopia and several cancers, particularly more skin cancer and lung cancer, and more migraine with aura. Sanchez-Roige acknowledged that there is a chicken-and-egg aspect to their findings. For example: Cardiovascular disease is just one of a number of maladies known to be associated with alcohol consumption. “So is alcohol consumption leading to these conditions?” she asks. Palmer finishes the thought: “Or do these genetic differences influence traits like malaria and skin cancer in a manner that is independent of alcohol consumption?” Sanchez-Roige said that such broad, hypothesis-free studies are only possible if researchers have access to very large sets of data. Many datasets, including the one used in the study, rely heavily on individuals with European ancestry. “It is important to include individuals from different ancestral backgrounds in genetic studies because it provides a more complete understanding of the genetic basis of alcohol behaviors and other conditions, all of which contributes to a more inclusive and accurate understanding of human health,” she said. “The study of only one group of genetically similar individuals (for example, individuals of shared European ancestry) could worsen health disparities by aiding discoveries that will disproportionately benefit only that population.” She said their study opens numerous doors for future research, chasing down possible connections between the alcohol-protective alleles and conditions that have no apparent connection with alcohol consumption. “Understanding the underlying mechanisms of these effects could have implications for treatments and preventative medicine,” Sanchez-Roige noted. Co-authors on the paper from the University of California San Diego School of Medicine Department of Psychiatry are Mariela V. Jennings, Natasia S. Courchesne-Krak, Renata B. Cupertino and Sevim B. Bianchi. Sandra Sanchez-Roige is also associated with the Department of Medicine, Division of Genetic Medicine, Vanderbilt University. Other co-authors are: José Jaime Martínez-Magaña, Department of Psychiatry, Division of Human Genetics, Yale University School of Medicine; Laura Vilar-Ribó, Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Alexander S. Hatoum, Department of Psychology & Brain Sciences, Washington University in St. Louis; Elizabeth G. Atkinson, Department of Molecular and Human Genetics, Baylor College of Medicine; Paola Giusti-Rodriguez, Department of Psychiatry, University of Florida College of Medicine; Janitza L. Montalvo-Ortiz, Department of Psychiatry, Division of Human Genetics, Yale University School of Medicine, National Center of Posttraumatic Stress Disorder, VA CT Healthcare Center; Joel Gelernter, VA CT Healthcare Center, Department of Psychiatry, West Haven CT; and Departments of Psychiatry, Genetics & Neuroscience, Yale Univ. School of Medicine; María Soler Artigas, Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Department of Mental Health, Hospital Universitari Vall d’Hebron, Barcelona; Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid; and Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona; Howard J. Edenberg, Department of Biochemistry and Molecular Biology, Indiana University School of Medicine; and the 23andMe Inc. Research Team, including Sarah L. Elson and Pierre Fontanillas. The study was funded, in part, by Tobacco-Related Disease Research Program grants T32IR5226 and 28IR-0070, National Institute of Health (NIH) National Institute of Drug Abuse (NIDA) DP1DA054394, and NIH National Institute of Mental Health (NIMH) R25MH081482. Source: University of California San Diego Journal reference: Jennings, M. V., et al. (2024) A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. Lancet eBioMedicine. doi.org/10.1016/j.ebiom.2024.105086. To read the original article click here.

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The Complex Biology Behind Your Love (or Hatred) of Coffee

AHA Publisher — Fri, 13 Mar 2020 07:00:37 +0000

DOE via Newswise – A Berkeley Lab scientist used statistics to tease out how genetics and environment interact to shape coffee consumption. Why do some people feel like they need three cups of coffee just to get through the day when others are happy with only one? Why do some people abstain entirely? New research suggests that our intake of coffee – the most popular beverage in America, above bottled water, sodas, tea, and beer – is affected by a positive feedback loop between genetics and the environment. This phenomenon, known as “quantile-specific heritability,” is also associated with cholesterol levels and body weight, and is thought to play a role in other human physiological and behavioral traits that defy simple explanation. “It appears that environmental factors sort of set the groundwork in which your genes start to have an effect,” said Paul Williams, a statistician at Lawrence Berkeley National Laboratory (Berkeley Lab). “So, if your surroundings predispose you to drinking more coffee – like your coworkers or spouse drink a lot, or you live in an area with a lot of cafes – then the genes you possess that predispose you to like coffee will have a bigger impact. These two effects are synergistic.” Williams’ findings, published in the journal Behavioral Genetics, came from an analysis of 4,788 child–parent pairs and 2,380 siblings from the Framingham Study – a famous, ongoing study launched by the National Institutes of Health in 1948 to investigate how lifestyle and genetics affect rates of cardiovascular disease. Participants, who are all related to an original group from Framingham, Massachusetts, submit detailed information about diet, exercise, medication use, and medical history every three to five years. Data from the study have been used in thousands of investigations into many facets of human health. Williams used a statistical approach called quantile regression to calculate what proportion of participants’ coffee drinking could be explained by genetics – as the study follows families – and what must be influenced by external factors. Past research shows that the most significant environmental factors influencing coffee drinking are culture and geographic location, age, sex, and whether or not one smokes tobacco; with older male smokers of European ancestry drinking the most, overall. The analysis indicated that between 36% and 58% of coffee intake is genetically determined (although the exact causative genes remain unknown). However, confirming Williams’ hypothesis that coffee drinking is a quantile-specific trait, the correlation between a parent’s coffee drinking and an offspring’s coffee drinking got increasingly stronger for each offspring’s coffee consumption quantile, or bracket (for example, zero cups per day, one to two cups, two to four cups, and five or more cups). “When we started to decode the human genome, we thought we’d be able to read the DNA and understand how genes translate into behavior, medical conditions, and such. But that’s not the way it’s worked out,” said Williams, who is a staff scientist in Berkeley Lab’s Molecular Biophysics & Integrated Bioimaging (MBIB) Division. “For many traits, like coffee drinking, we know that they have a strong genetic component – we’ve known coffee drinking runs in families since the 1960s. But, when we actually start looking at the DNA itself, we usually find a very small percentage of the traits’ variation can be attributed to genes alone.” The traditional assumption in genetic research has been that one’s surroundings and lifestyle alter gene expression levels in consistent and measurable ways, ultimately creating the outward manifestation – called a phenotype – of a trait. Williams’ statistics work shows that the situation is more complex, which helps explain the diversity of traits we see in the real world. MBIB Division Director Paul Adams commented, “Paul’s statistical studies complement the genomics research that Berkeley Lab bioscientists conduct to learn more about the relationship between genes and the environment.” Next, Williams plans to assess whether quantile-specific heritability plays a role in alcohol consumption and pulmonary function. “This is a whole new area of exploration that is just now opening up,” he said. “I think it will change, in a very fundamental way, how we think genes influence a person’s traits.” This research was funded by a grant from the National Institute of Environmental Health Sciences and a gift from HOKA ONE ONE. The Framingham Study Data were made available through the Biologic Specimen and Data Repository Information Coordinating Center of the National Heart, Lung, and Blood Institute. To read the original article click here.

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