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New Genetic Mutation Discovered in People with Schizophrenia

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.”

There are no autism-specific genes, just brain genes

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.

TAFFD’s AFRICA VIRTUAL TOWN HALL MEETING

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.



Mission.
Creating a space for discussions on ideas and issues related to the African condition, and develop a suitable narrative through multidimensional approaches to drive progress in Africa towards a sustainable and more prosperous future.

Vision.
Building from the present and critically reconstructed African past for a greater, highly advanced, cosmopolitan, peaceful, and prosperous future African civilization through meaningful and fruitful discourse and action.

Holding: TAFFD’s Africa.

Reading Minds With Ultrasound

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?

Neuroscientists identify brain circuit motifs that support short-term memory

Humans have the innate ability to store important information in their mind for short periods of time, a capability known as short-term memory. Over the past few decades, numerous neuroscientists have tried to understand how neural circuits store short-term memories, as this could lead to approaches to assist individuals whose memory is failing and help to devise memory enhancing interventions.

Researchers at Stanford and the Janelia Research Campus, Howard Hughes Medical Institute have recently identified neural circuit motifs involved in how humans store short-term memories. Their findings, published in Nature Neuroscience, suggest that -related contain recurrently connected modules that independently maintain selective and continuous activity.

“Short-term memories are of approximately 10 seconds or so, for example, if you needed to remember a while you looked for a pen to write the number,” Kayvon Daie, one of the researchers who carried out the study, told Medical Xpress. “Individual , however, are very forgetful, as they can only remember their inputs for about 10 milliseconds. It has been hypothesized that if two forgetful neurons were connected to each other, they could continuously remind each other of what they were supposed to remember so that the circuit can now hold information for many seconds.”

Action potentials induce biomagnetic fields in carnivorous Venus flytrap plants

“Previously reported detection of plant biomagnetism, which established the existence of measurable magnetic activity in the plant kingdom, was carried out using superconducting-quantum-interference-device (SQUID) magnetometers1, 5, 16. Atomic magnetometers are arguably more attractive for biological applications, since, unlike SQUIDs34, 35, they are non-cryogenic and can be miniaturized to optimize spatial resolution of measured biological features14, 15, 36. In the future, the SNR of magnetic measurements in plants will benefit from optimizing the low-frequency stability and sensitivity of atomic magnetometers. Just as noninvasive magnetic techniques have become essential tools for medical diagnostics of the human brain and body, this noninvasive technique could also be useful in the future for crop-plant diagnostics—by measuring the electromagnetic response of plants facing such challenges as sudden temperature change, herbivore attack, and chemical exposure.”


Upon stimulation, plants elicit electrical signals that can travel within a cellular network analogous to the animal nervous system. It is well-known that in the human brain, voltage changes in certain regions result from concerted electrical activity which, in the form of action potentials (APs), travels within nerve-cell arrays. Electro-and magnetophysiological techniques like electroencephalography, magnetoencephalography, and magnetic resonance imaging are used to record this activity and to diagnose disorders. Here we demonstrate that APs in a multicellular plant system produce measurable magnetic fields. Using atomic optically pumped magnetometers, biomagnetism associated with electrical activity in the carnivorous Venus flytrap, Dionaea muscipula, was recorded. Action potentials were induced by heat stimulation and detected both electrically and magnetically.

Liz Parrish goes deep into gene therapies at the HackMyAge Podcast by Zora (March 2021)

Long but annotated! Most important here is human data for specific treatments due out starting in May or June. And apparently they had a mouse study where they expected a paper due out already but other groups chimed in to help with more testing so there is a delay.


Liz Parrish, CEO of BioViva Science and patient zero of biological rejuvenation with gene therapies, is interviewed by Zora Benhamou on her fresh podcast “HackMyAge”.

During the conversation, Liz enters deep into the world of gene therapies, either to cure monogenic diseases, multifactorial genetic diseases, or the mother of all diseases: aging itself.

The conversation lasts for one hour and twenty minutes and has no waste. However, to go direct to certain themes use the following time marks:

0:00:00 Zora introduces the podcast: who is Liz Parrish and what the conversation will be about.

Neuroscientists Unveil Tech for the Vision Impaired: Bionic Eyes, Textured Tablets and More

Devices shift away from Robocop-like wearables to simpler, more accessible assistive solutions.


There are many, many wearable and portable devices aimed at improving life for the blind and visually impaired (in some cases, even restoring vision). Such devices have been developed for pretty much every part of the body: fingers, wrists, abdomen, chest, face, ears, feet, even the tongue.

The thing is—people don’t want to wear them.

“All of these wearables currently on the market have very low acceptance from the community because you look like some sort of RoboCop when you wear them, and people don’t want to attract attention to their impairment,” said Ruxandra Tivadar of the University of Bern in Switzerland, during the annual meeting of the Cognitive Neuroscience Society (CNS), held virtually this week.