The hottest Genetics Substack posts right now

And their main takeaways
Category
Top Health & Wellness Topics

Action Potentials for March

Neurobiology Notes • 137 implied HN points • 18 Mar 23
🔬 Science Neurobiology Genetics Immunology Quantum physics Cryonics
  1. A big connectomics study of Drosophila larva was published, revealing new insights into neural connections
  2. Simulated neural networks can accurately replicate properties of connectomes in different species
  3. Research proposal aims to comprehensively measure input-output functions of all 302 neurons in C. elegans, a significant project in neuroscience

Erika Update #5: DNA detective

Erika’s Newsletter • 137 implied HN points • 18 Apr 23
🔬 Science Biology Genetics Research Engineering Biotechnology
  1. It's important to keep good track of custom DNA programs in biology for engineering purposes.
  2. Current DNA management lacks clear nomenclature and annotation, making it challenging to work with DNA sequences.
  3. Challenges in DNA management highlight the complexity of biological functions and the importance of handling sequences carefully and thoughtfully.

Genetic Certainty and Mechanistic Ambiguity

Holodoxa • 99 implied HN points • 09 Dec 23
🔬 Science Genetics Cancer Biology Research Health
  1. Genetic information is essential for understanding diseases, but it is just the beginning - further research is needed to unravel how genetic errors impact proteins and disease mechanisms.
  2. Studying cancer syndromes can provide insights into tumor suppressor genes and the genetic risks associated with cancer development.
  3. The discovery of the VHL gene linked to von Hippel-Lindau disease illustrates the complexity of disease mechanisms, such as how disruption of a ubiquitin ligase can lead to cancer and the tissue-specific patterns of risk in affected individuals.

The Tumor Suppressor to Rule Them All

Holodoxa • 119 implied HN points • 03 Nov 23
🏥 Health & Wellness Cancer Genetics Research
  1. TP53, known as the 'Guardian of the Genome,' is a crucial tumor suppressor gene frequently mutated in cancer and associated with poor prognosis.
  2. Research on TP53 and Li-Fraumeni Syndrome highlights the high cancer risk and early onset of cancers in individuals with TP53 mutations, emphasizing the need for surveillance and preventive measures.
  3. _TP53_'s intricate structure and functions, such as its role in the DNA damage response, make it a central player in cellular processes related to stress and aging.
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DNA foundation modeling

Axial • 7 implied HN points • 10 Dec 24
🔬 Science Genetics Biotechnology Synthetic Biology Drug Discovery
  1. DNA foundation models are helping scientists analyze and understand the complex patterns in genetic data. They can lead to important discoveries in medicine and biology.
  2. Building these models is tough because DNA sequences are long and complicated. Special techniques are needed to process them efficiently and recognize important details.
  3. While these models have great potential, they need to be tested carefully to avoid mistakes. We also need to think about the ethical implications of using them in research and medicine.

Some Switches Can't Be Unflipped (But We Can Cut the Power)

Holodoxa • 79 implied HN points • 26 Dec 23
🔬 Science Genetics Cancer Pharmacology Thyroid
  1. In hereditary cancer, mutations in tumor suppressor genes are more common than in oncogenes, and a second hit is often required for cancer to develop.
  2. The RET gene, an oncogene, is associated with Multiple Endocrine Neoplasia Type 2 (MEN2) and can lead to various clinical conditions depending on the mutation type.
  3. Mutations in oncogenes like RET can be targeted with drugs, leading to effective treatments for cancers like medullary thyroid cancer, showing the clinical impact of genetic research beyond diagnosis.

A novel take on group differences in test scores. Part I

America in Crisis • 119 implied HN points • 31 Aug 23
🔬 Science Intelligence Evolution Genetics Culture Societies
  1. Culture plays a crucial role in group differences in test scores and IQ measurements, alongside genetics and environment.
  2. IQ scores are influenced by both genetic and cultural components, with culturally-loaded tests showing higher heritability.
  3. Over time, group differences in IQ can be attributed more to the cultural component rather than the genetic one, with national IQ averages possibly rising with economic growth.

Introducing Cancer Genomes

Holodoxa • 119 implied HN points • 10 Aug 23
🔬 Science Genomics Cancer Biology Genetics
  1. The new channel 'Cancer Genomes' on Holodoxa will explore topics like hereditary cancer syndromes and precision oncology.
  2. The author aims to make the complex subject matter accessible to readers with a high school level understanding of biology.
  3. Aside from cancer genomics, the author's Holodoxa channel covers various other science topics like genetics and social outcomes.

From Clinic to Genome and Back Again: Cowden Syndrome and PTEN

Holodoxa • 119 implied HN points • 17 Aug 23
🏥 Health & Wellness Genetics Cancer Research Diagnosis
  1. Cowden Syndrome, first described in 1963, was named after the patient Rachel Cowden and later found to be associated with the PTEN gene.
  2. The PTEN gene was identified as a tumor suppressor gene responsible for Cowden Syndrome, leading to advancements in genetic diagnosis and personalized medical care.
  3. Cowden Syndrome shows clinical and genetic heterogeneity, with other genes like PIK3CA and AKT1 also implicated, leading to the classification of PTEN Hamartoma Tumor Syndrome for better diagnosis.

Race, Gender and IQ

David Friedman’s Substack • 323 implied HN points • 25 May 23
🔬 Science Race IQ Gender Environment Genetics
  1. Publicly discussing racial and gender differences in IQ can lead to accusations of prejudice, as seen in the cases of James Watson and Lawrence Summers.
  2. Evidence suggests that the genetic IQ of Africans is comparable to that of whites, challenging previous assumptions of lower intelligence.
  3. Nurture may play a smaller role than nature in influencing outcomes, as seen in a study of Korean-American children placed for adoption.

Public Views on Polygenic Screening of Embryos

Parrhesia • 380 implied HN points • 21 Feb 23
🔬 Science Genetics
  1. Genome-wide association studies have enabled geneticists to associate single nucleotide polymorphisms with physical and behavioral outcomes.
  2. Polygenic scores (PGS) can estimate risk based on a person's genome, aiding in embryo selection through preimplantation genetic testing for polygenic traits (PGT-P).
  3. Public attitudes towards services like PGT-P and gene editing for morally acceptable interventions show some acceptance but also raise concerns about stigmatization and potential misuse of genetic technologies.

The ultra-selfish gene

The Works in Progress Newsletter • 13 implied HN points • 08 Nov 24
🔬 Science Genetics Malaria Gene-editing Ecology Biotechnology
  1. Gene editing technology, especially CRISPR/Cas9, offers powerful ways to potentially eliminate malaria by modifying the mosquitoes that spread it. This could save millions of lives.
  2. Selfish genetic elements can alter inheritance patterns within populations, which may allow a single gene edit to spread rapidly through an entire species, potentially causing significant ecological changes.
  3. While gene drives could provide solutions to public health issues, their release carries risks. There’s a need for careful monitoring and potential reversal strategies to prevent unintended consequences.

Understanding Variation in PTEN

Holodoxa • 99 implied HN points • 07 Sep 23
🔬 Science Genetics Research Data Analysis Cancer
  1. Understanding genomic data variation and its effect is a significant challenge in genetic research.
  2. Deep Mutational Scanning (DMS) and Multiplex Assays of Variant Effects (MAVEs) are crucial methods to study how mutations impact protein function.
  3. MAVE data on PTEN has provided insights into its function, stability, and clinical implications, aiding in the understanding of PTEN variation.

Erika Update #1: Getting projects started is hard

Erika’s Newsletter • 98 implied HN points • 20 Feb 23
🔬 Science Research Biology Experiments Publishing Genetics
  1. Starting projects can be challenging, but perseverance and a supportive environment are key to making progress.
  2. Mistakes are common in research, but being able to identify and correct them is crucial for success.
  3. Regular updates and reflections on the progress of a project can provide valuable insights and contribute to overall success.

The Vector Zoo

Asimov Press • 96 implied HN points • 07 Mar 24
🔬 Science Diseases Genetics Vaccines
  1. The Vector Zoo showcases humanity's battle to eradicate zoonotic and vector-borne diseases, emphasizing the challenges faced in diseases like malaria due to shifting parasites and vectors.
  2. The Last Mile Labyrinth in the Vector Zoo symbolizes the choice between collaborative efforts towards disease eradication or reverting to isolated living, highlighting the complexities and costs involved in disease elimination.
  3. The Temple of Political Will in the Vector Zoo underscores the critical role of social and political commitment in disease eradication, demonstrating the impact of funding and investments in public health initiatives.

A Century-Long Saga of Familial Colorectal Cancer

Holodoxa • 79 implied HN points • 14 Nov 23
🏥 Health & Wellness Genetics Cancer Immunotherapy Prevention
  1. The study of Michigan and Nebraskan families led to the discovery of mutated mismatch repair genes causing hereditary colorectal cancers like Lynch syndrome.
  2. Mismatch repair genes play a crucial role in maintaining DNA integrity and preventing cancer development. Defects in these genes can lead to conditions like microsatellite instability.
  3. Individuals with Lynch syndrome have higher cancer risks associated with certain genes like MLH1 and MSH2, but a relatively good clinical outcome is observed with improved survival rates.

Tromp and Racism

Outlandish Claims • 19 implied HN points • 01 May 24
💾 History Racism Eugenics Genetics Succession
  1. Francis Galton advocated for eugenic breeding based on historical geniuses, but his methodology was flawed due to privilege and biases
  2. Tromp's rise in the naval ranks was largely due to his father's influence, showcasing how privilege can overshadow actual ability
  3. Galton's ideas on hereditary genius and scientific racism highlight the dangers of attributing success solely to genetics, legitimizing historical injustices and fostering bigotry

Eggs and scrambled chromosomes

De Novo • 121 implied HN points • 15 Mar 24
🔬 Science Biology Genetics Research
  1. Growth of eggs from stem cells is challenging, but a new research approach involving injecting adult cell nucleus into a donor egg may offer an alternative.
  2. Chromosomes' proper segregation during meiosis II seems more efficient in inbred mice compared to hybrid mice, indicating the importance of genetic similarity in the process.
  3. Understanding the mechanism that aids proper segregation in inbred chromosomes could potentially lead to advancements in using the nuclear transfer method for human oocytes, though challenges like aneuploidy and efficiency still need to be addressed.

Gattaca is Here

Nothing Human is Alien • 39 implied HN points • 05 Feb 24
🔬 Science Genetics Ethics Technology Health Society
  1. The technology to select genetic traits in embryos is becoming more advanced and accessible, with possibilities ranging from preventing diseases to enhancing traits like intelligence and happiness.
  2. Genetic selection through technologies like Preimplantation Genetic Testing (PGT) raises ethical concerns due to its potential to create a two-tiered society and impact the essence of humanity.
  3. Although genetic selection technology poses risks, it also holds the promise of eradicating diseases, promoting happier individuals, and potentially enhancing cognitive abilities to unprecedented levels.

Letter to Mother Nature: Amendments to the Human Constitution

Extropic Thoughts • 78 implied HN points • 12 Jul 23
🔬 Science Transhumanism Biotechnology Evolution Genetics
  1. The essay discusses amending the human constitution to overcome limitations like aging and death.
  2. It proposes expanding human perceptual abilities and enhancing intelligence through biotechnology and neural improvements.
  3. The amendments aim to move humanity towards a posthuman condition, integrating technology into individuals for unprecedented innovation.

Dispatches from the GWAS Era

Holodoxa • 79 implied HN points • 27 Jun 23
🔬 Science Genetics Research Health Diseases Discovery
  1. Genome-wide association studies (GWAS) help understand how genes influence traits and diseases by identifying genetic variants associated with specific traits using large sample sizes and statistical tests.
  2. GWAS provide insights into biological mechanisms, heritability of traits, and can generate polygenic risk scores to predict disease risk based on genetic profiles.
  3. GWAS require large sample sizes and collaborative efforts, showcasing their ongoing utility in genetic research for discovering associations between genetic variants and complex traits.

The Last Great Naturalist

Holodoxa • 99 implied HN points • 23 Mar 23
🔬 Science Biology Evolution Behavior Genetics Conservation
  1. Life science research was pioneered by naturalists who explored and documented nature, influencing key scientific paradigms like evolution and genetics.
  2. E.O. Wilson, a revered naturalist and scientist, contributed significantly to fields such as myrmecology, sociobiology, and conservation.
  3. Wilson's work sparked debate in the scientific community, particularly around sociobiology, which explores the genetic basis of social behavior in animals, including humans.

Technology is Reshaping Human History

The Digital Anthropologist • 59 implied HN points • 13 Oct 23
🔬 Science History Genetics Archaeology Digital Technologies AI
  1. Digital technologies are reshaping human history, impacting our future in significant ways. It's an exciting time to be alive.
  2. Advancements like AI and genetic engineering are revealing new insights into ancient civilizations, genetics, and human evolution.
  3. Technologies such as LIDAR, genetic analysis tools, and AI are helping discover ancient civilizations and rewrite textbooks in anthropology and archaeology.

Action Potentials for August

Neurobiology Notes • 58 implied HN points • 21 Aug 23
🔬 Science Neurobiology Psychiatry Biochemistry Genetics
  1. New microscopy method combines electron microscopy with fluorescence imaging for detailed mapping of cell types, proteins, and synaptic connections in neuroscience.
  2. Memory ensembles in the brain are formed by neurons with high excitability, helping link memories and facilitating memory recall.
  3. Memory engrams exist across multiple brain areas, and bioelectric fields may coordinate memory ensembles distributed in the brain.

Genetics can predict height, cancer risks, neuropsychiatric diseases and more — but not IQ?

Nucleus Genomics • 4 HN points • 11 Jul 24
🔬 Science Genetics Research Health Technology Education
  1. Genetics can help us understand traits like height and disease risks, but predicting intelligence (IQ) is much more complex and not fully possible yet.
  2. Current genetic models can give partial insights about how genes may influence intelligence but cannot tell you your exact IQ.
  3. As technology improves, genetic predictions for traits, including intelligence, may get better, providing more useful information about how genetics interacts with environment.