Circa 2012
M.I.T. scientist Sebastian Seung describes the audacious plan to find the connectome—a map of every single neuron in the brain. Here, he says, is the secret of human identity.
The research team, led by Todd Lencz, PhD, with Itsik Pe’er, PhD, Tom Maniatis, PhD, and Erin Flaherty, PhD, of Columbia University, carried out a genetic study identifying a single letter change in the DNA code in the PCDHA3 gene that is associated with schizophrenia. The affected gene makes a type of protein called a protocadherin, which generates a cell surface “barcode” required for neurons to recognize, and communicate with, other neurons. They found that the PCDHA3 variant blocks this normal protocadherin function.
The discovery was made possible by the special genetic characteristics of the samples studied by Lencz’s team—patients with schizophrenia and healthy volunteers drawn from the Ashkenazi Jewish population. The Ashkenazi Jewish population represents an important population for study based on its unique history. Just a few hundred individuals who migrated to Eastern Europe less than 1000 years ago are the ancestors of nearly 10 million Ashkenazi Jews today. This lineage, combined with a tradition of marriage within the community, has resulted in a more uniform genetic background in which to identify disease-related variants.
“In addition to our primary findings regarding PCDHA3 and related genes, we were able— due to the unique characteristics of the Ashkenazi population—to replicate several prior findings in schizophrenia despite relatively small sample sizes,” said Lencz, professor in the Institute of Behavioral Science at the Feinstein Institutes. “In our study, we demonstrated this population represents a smart, cost-effective strategy for identifying disease-related genes. Our findings allow us to zero in on a novel aspect of brain development and function in our quest to develop new treatments for schizophrenia.”
It is well established that rare, damaging genetic variants with strong effects contribute to autism. Although individually rare, these variants are collectively common: Clinical genetic testing identifies them in at least 25 percent of autistic people. Studies of these variants have implicated more than 100 genes — and counting — in autism.
Identifying these genes is important — not only for clinical care, but also for advancing our understanding of the neural circuits and processes involved in autism or in its core traits. It creates the opportunity to develop therapies targeted to specific molecular diagnoses. And as we learn more about these genes and the consequences of variants that disrupt their function, we have the potential to better understand the mechanisms underlying cases of autism in which a definitive genetic diagnosis cannot yet be made.
But the genetic findings in people with autism are not unique; deleterious variants in the same genes are also implicated in other neurodevelopmental conditions, such as intellectual disability, epilepsy, attention deficit hyperactivity disorder and schizophrenia. Specific genes and variants do not map neatly onto categorical clinical diagnoses or the core cognitive and behavioral traits that define them. In fact, there is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions.
😀
The Artemis program is supposed to usher in a new age of lunar mining, especially for water ice. But how, exactly?
Join the Transdisciplinary Agora for Future Discussions, Inc. — TAFFD’s.
A bi-weekly virtual town hall-like show presenting in-depth discussions on issues connected to African advancement in the 21st century ranging from science, technology, … See More.
Continue reading “TAFFD’s AFRICA VIRTUAL TOWN HALL MEETING” »
This progressive trance set is labeled SYNTELLECTUS and is inspired by The Syntellect Hypothesis, a recent best-selling book of mine… If you remember, SYNTELLECTUS refers to a neologism Holo Syntellectus — a new hybrid species emerging as a syntellect, [phase-transitioning to] one global mind… Enjoy!
https://youtu.be/P8QQz3jzsxI (((Subscribe to EM Channel!)))
New York approves a power cable for Deepwater Wind South Fork; Give Solar works with Habitat for Humanity to provide solar for homeowners.
Fan speeds clock in over 11000 RPM.
Dynatron rolls out the A38, a robust CPU air cooler for AMD Ryzen Threadripper and EPYC processors.
Summary: Focused ultrasound allowed researchers to record and monitor brain activity in a non-invasive way. The technology allowed the researchers to predict movement.
Source: CalTech.
What is happening in your brain as you are scrolling through this page? In other words, which areas of your brain are active, which neurons are talking to which others, and what signals are they sending to your muscles?
A hint of the possible existence of a hypothetical particle called a leptoquark has appeared as an unexpected difference in how beauty quarks decay to create electrons or muons. Measured by physicists working on the LHCb experiment on the Large Hadron Collider (LHC) at CERN, the difference appears to violate the principle of “lepton universality”, which is part of the Standard Model of particle physics. The measurement has been made at a statistical significance of 3.1σ, which is well below the 5σ level that is usually considered a discovery. If the violation is confirmed, it could provide physicists with important clues about physics beyond the Standard Model – such as the existence of leptoquarks.
When high-energy protons are smashed together at the LHC large numbers of exotic particles are created, including some containing the beauty quark. These exotic particles quickly decay, and beauty quarks can follow decay paths that involve the production of either electrons or muons, which are both leptons. According to the Standard Model of particle physics, the interactions involved in producing leptons do not discriminate between lepton type, so the rates at which electrons and muons are created by beauty-quark decays are expected to be the same.
Starting in 2014, physicists working on LHCb noticed hints of the violation of this lepton universality. Now, after analysing collision data collected between 2011 and 2018, the researchers have found that the beauty quark appears to favour the electron decay chain over the muon decay chain.
