The Indigene Project is funded by the National Institutes of Health (NIH) Grant No. U01HG007654 and is one of the Human Heredity and Health in Africa (H3Africa) Consortium projects. We thank all team members who worked on the Indigene Project.
‘A Chance to Live’: How 2 Families Faced a Catastrophic Birth Defect
(New York Times) – Cases of trisomy 18 may rise as many states restrict abortion. But some women choose to have the babies, love them tenderly and care for them devotedly. In Texas last year, Kate Cox, whose fetus had … Read More
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Overdosing on Chemo: A Common Gene Test Could Save Hundred of Lives Each Year
(KFF Health News) – Rosen was one of more than 275,000 cancer patients in the United States who are infused each year with fluorouracil, known as 5-FU, or, as in Rosen’s case, take a nearly identical drug in pill form … Read More
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DNA Test Says It Can Predict Opioid Addiction Risk. Skeptics Aren’t So Sure.
(Washington Post) – Using a swab inside the cheek and a sophisticated computer algorithm, a DNA test recently approved by federal regulators promisesto assess genetic risk of opioid addiction. The test’s maker says results give doctors and patients a crucial … Read More
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Surgeons Transplant Pig Kidney Into a Patient, a Medical Milestone
(New York Times) – Surgeons in Boston have transplanted a kidney from a genetically engineered pig into an ailing 62-year-old man, the first procedure of its kind. If successful, the breakthrough offers hope to hundreds of thousands of Americans whose … Read More
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(CNN) – A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy, or MLD, will carry a wholesale price of $4.25 million, its manufacturer announced Wednesday, making it the world’s most expensive medicine. Lenmeldy was approved by the US … Read More
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DNA Tests Are Uncovering the True Prevalence of Incest
(The Atlantic) – Widespread genetic testing is uncovering case after secret case of children born to close biological relatives—providing an unprecedented accounting of incest in modern society. The geneticist Jim Wilson, at the University of Edinburgh, was shocked by the … Read More
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A New Strategy to Attack Aggressive Brain Cancer Shrank Tumors in Two Early Tests
(ABC News) – A new strategy to fight an extremely aggressive type of brain tumor showed promise in a pair of experiments with a handful of patients. Scientists took patients’ own immune cells and turned them into “living drugs” able … Read More
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Doctors Can Now Edit the Genes Inside Your Body
(Wall Street Journal) – It sounds like science fiction, but Odunsi is among dozens of people participating in studies on a controversial new forefront of the gene-editing revolution. Regulators last year approved the world’s first medicine using Crispr, the Nobel … Read More
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The DNA Scandal That Threatens Thousands of Criminal Cases
(Wall Street Journal) – For nearly three decades, Yvonne “Missy” Woods was Colorado’s star forensic scientist, relied on by police and prosecutors to test DNA evidence in the state’s most baffling crimes. Her work was considered the gold standard by … Read More
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One Twin Was Hurt, the Other Was Not. Their Adult Mental Health Diverged.
(New York Times) – Why do twins, who share so many genetic and environmental inputs, diverge as adults in their experience of mental illness? On Wednesday, a team of researchers from the University of Iceland and Karolinska Institutet in Sweden … Read More
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(Aeon) – Good Chemistry takes viewers behind the scenes and beyond the headlines of the CRISPR gene-editing breakthrough. Centred on the work of the French microbiologist Emmanuelle Charpentier and the US biochemist Jennifer Doudna, who together became the first all-female … Read More
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Meet the Fetal Surgeon Forging CRISPR’s Next Frontier: Curing Diseases in the Womb
(STAT News) – If UCSF is known for birthing the field of fetal surgery, UC Berkeley, located a short drive across the Bay Bridge, is famous in biomedical circles for pioneering CRISPR gene editing, the most powerful DNA-manipulating tool ever … Read More
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A New Edition of European Journal of Human Genetics Is Now Available
European Journal of Human Genetics (vol. 32, no. 2, 2024) is available online by subscription only. Articles include: “From Mendel to multi-omics: Shifting Paradigms” by Tesfaye B. Mersha “A Framework for Evaluating long-term Impact of Newborn Screening” by Shona Kalkman, … Read More
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‘All of Us’ Genetics Chart Stirs Unease Over Controversial Depiction of Race
(Nature) – Some geneticists have expressed their unease about a figure in a high-profile Nature paper that was published earlier this week, noting that it could be misinterpreted as reinforcing racist beliefs. The figure has reignited a long-standing debate among … Read More
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MEGA-CRISPR Tool Gives a Power Boost to Cancer-Fighting Cells
(Nature) – The CRISPR–Cas9 gene-editing system excels at altering and disrupting genes. But the changes it makes are permanent, which can be a big problem if the system goes awry. Now, a CRISPR-based system that targets a cell’s short-lived messenger … Read More
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Scientists Find Genetic Signature of Down Syndrome in Ancient Bones
(New York Times) – Scientists have diagnosed Down syndrome from DNA in the ancient bones of seven infants, one as old as 5,500 years. Their method, published in the journal Nature Communications, may help researchers learn more about how prehistoric … Read More
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Super-Speedy Sequencing Puts Genomic Diagnosis in the Fast Lane
(Nature) – Stark and others around the world have repeatedly demonstrated the feasibility and clinical benefit of rapid sequencing and interpretation pipelines for delivering timely, personalized interventions for previously enigmatic disorders. These workflows can generally deliver diagnoses in less than … Read More
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‘All of Us’ Reports Half of the Genomes It Has Sequenced Are from Non-Europeans
(STAT News) – Six years ago, the National Institutes of Health placed its biggest ever bet on precision medicine, launching a study to enroll over 1 million participants in an ambitious data-gathering gambit unmatched in its scope and diversity. Since … Read More
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More Patients Rely on Early Prenatal Testing as States Toughen Abortion Laws
(PBS) – Since Roe v. Wade was overturned, many health care providers say an increasing number of patients are deciding the fate of their pregnancies on whatever information they can gather before state abortion bans kick in. But early ultrasounds … Read More
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What Exactly, Should You Eat? Inside the $190 Million Study Trying to Find the Answer
(Wall Street Journal) – The NIH study will involve 10,000 participants in total, some of whom are signing up for intense measures, like monitors that follow them and make sure they don’t eat smuggled food, or special eyeglass attachments to … Read More
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Angiodema: Gene Therapy Blocks Painful Hereditary Disorder
(BBC) – Gene therapy has transformed the lives of people with a genetic disorder that causes painful and unpredictable swelling attacks. Angiodema, thought to affect 50,000 people worldwide, can be seriously debilitating, affect airways, and occasionally prove fatal. Patients treated … Read More
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Why Do Women Have More Autoimmune Diseases? Study Points to X Chromosome
(New York Times) – Women are much more likely than men to have their immune system turn against them, resulting in an array of so-called autoimmune diseases, like lupus and multiple sclerosis. A study published on Thursday offers an explanation … Read More
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We’re Naming Cancers All Wrong, Oncology Leader Says
(STAT News) – Naming cancers solely by the organs they originate in is getting a bit old, according to Fabrice André, a medical oncologist at Gustave Roussy in France and the president-elect of the European Society of Medical Oncology. Instead, … Read More
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23andMe’s Fall from $6 Billion to Nearly $0
(Wall Street Journal) – 23andMe went public in 2021 and its valuation briefly topped $6 billion. Forbes anointed Anne Wojcicki, 23andMe’s chief executive and a Silicon Valley celebrity, as the “newest self-made billionaire.” Now Wojcicki’s self-made billions have vanished. 23andMe’s … Read More
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“Hungry Gut” vs. “Hungry Brain”: Test Could Help Decide Who Gets Obesity Drugs
(Axios) – As everyone in health care is trying to figure out which patients should get pricey new weight-loss drugs, a biotech company spun out of the Mayo Clinic is betting the genetics-based approach it’s pioneering may hold the answer. … Read More
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