Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more

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Visualizing retrograde flow

This month’s intriguing image is a set of videos produced by cell biologist James Zheng’s laboratory. Looking at this video of a cell can be mesmerizing. The edges of the cell appear to be flowing inward, like a waterfall. Zheng explains that this is a phenomenon called “actin retrograde flow.”

Actin is a very abundant protein found in animals, plants and fungi that forms filaments, making up the cell’s internal skeleton. What we are seeing with retrograde flow is that molecules of actin are being added to one end of the filaments while coming loose from the other end.Actin

Zheng’s laboratory is studying a protein called cofilin, which disassembles actin filaments. Using a technique called CALI (chromophore-assisted laser inactivation) the scientists http://www.troakley.com/ used a laser to blast cofilin, inactivating it. This is why, partway through the loop, after the word CALI appears, the flow slows down. Postdoctoral fellow Eric Vitriol is the lead author on a paper in Molecular Biology of the Cell that includes these videos.

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Gene duplication leads to obesity in childhood syndrome

A team of researchers has discovered a genetic syndrome that causes childhood obesity, intellectual disability and seizures. The syndrome comes from an “unbalanced” chromosomal translocation: affected individuals have additional copies of genes from one chromosome and fewer copies of genes from another.

The results were published this week in Proceedings of the National Academy of Sciences, Early Edition.

Katie Rudd, PhD, assistant professor of human http://www.raybanoutletes.com/ genetics at Emory University School of Medicine, is senior author of the paper. Research specialist Ian Goldlust, now a graduate student in the NIH-Oxford-Cambridge Scholars Program, is the first author. Co-authors include investigators from around the USA and Australia.

Rudd’s team was able to connect the contribution of one gene, GNB3, among many involved in the translocation, to the obesity aspect of the syndrome. Her lab created a mouse model with an extra copy of the GNB3 gene and found that the mice are obese. The mice are on average 6 percent (males) or 10 percent (females) heavier.

Rudd says her work was greatly assisted by collaboration with the Unique Rare Chromosome Disorder Support Group, a UK-based charity. Within Unique, a few parents had together found that their children had translocations involving the same chromosomes and similar symptoms. They contacted Rudd and helped her find additional affected families. Her study includes seven unrelated patients.

“It really was a group effort, and Unique was the linchpin,” she says. “Managing to find seven families with exactly the same rare translocation would have been extremely difficult otherwise.”

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Exception from informed consent: what patients say

Informed consent is a basic principle of clinical research. Doctors are required to make sure that patients understand what’s involved with experimental treatments, and patients should only participate if they provide consent.

However, an important area of clinical research takes place outside of this general rule, because some life-threatening conditions – seizures, traumatic brain injury and cardiac arrest, as examples — make it impossible for the patient to learn about a clinical trial and make a decision about whether to participate. The urgency of treatment can also mean that seeking proxy consent from a relative is impractical.

A recent editorial in USA Today highlights this area of research, called EFIC (exception from informed consent). The author, Katherine Chretien from George Washington University, cites research from Emory investigators Neal Dickert and Rebecca Pentz.

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The creeping edges of cells: lamellipodia

Lamellipodia with red box
This month’s Image feature highlights lamellipodia, the thin sheet-like regions at the leading edges of migrating cells. Lamellipodia act as tiny creeping motors that pull the cell forward.

To help visualize lamellipodia, Adriana Simionescu-Bankston, a graduate student in Grace Pavlath’s lab, provided us with this photo of muscle cells. The red box shows an example of lamellipodia. Notice the edge of the cell, where the green color is more intense.

The green color comes from FITC-phalloidin, which stains F-actin, the Ray Ban outlet filaments that make up a large part of the cells’ internal skeleton. (Phalloidin is an actin-binding toxin originally isolated from death cap mushrooms, and FITC is what makes it green.) The blue color comes from DAPI, a dye that stains the DNA in the nucleus.

Simionescu-Bankston and Pavlath recently published a paper in the journal Developmental Biology, examining the function of a protein called Bin3 in muscle development and regeneration. They found that Bin3 appears to regulate lamellipodia formation; in mice that lack Bin3, muscle cells have fewer lamellipodia and the muscle tissues regenerate slower after injury. Bin3 is also important in the eye, since the “knockout” mice develop cataracts soon after birth.

 

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From the genetic code to new antibiotics

Biochemist Christine Dunham and her colleagues have a new paper in PNAS illuminating a long-standing puzzle concerning ribosomes, the factories inside cells that produce proteins.

Ribosomes are where the genetic code “happens,” because they are the workshops where messenger RNA is read out and proteins are assembled piece by piece. As a postdoc, Dunham contributed to Nobel Prize-winning work determining the molecular structure of the ribosome with mentor Venki Ramakrishnan.

Ribosomes are the workshops for protein synthesis and the targets of several antibiotics

The puzzle is this: how messenger RNA can be faithfully and precisely translated, when the interactions that hold RNA base pairs (A-U and G-C) together are not strong enough. There is enough “wobble” in RNA base pairing such that transfer RNAs that don’t match all three letters on the messenger RNA can still fit.

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Supreme decision on DNA patents

In these days of political polarization, how often does the United States Supreme Court make a unanimous decision? When the case has to do with human genes and their patentability!

The case concerned patents held by Utah firm Myriad Genetics on the BRCA1 and 2 genes. Mutations in those genes confer an increased risk of breast and ovarian cancer. The patents in dispute claimed the genes themselves rather than just the technology for reading them.

Cecelia Bellcross, director of Emory’s genetics counseling program and an expert on breast cancer genetics counseling, reports that “in general, the clinical genetics community is jumping up and down, as are a lot of genetics lab directors and definitely patient advocacy groups.”

Myriad’s BRCA tests cost more than $3,000. Several competing firms announced that they would offer tests for the BRCA1 and 2 mutations at significantly lower prices.

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An indicator of aberrant stem cell reprogramming

The 2012 Nobel Prize in Medicine was awarded to Shinya Yamanaka and John Gurdon for the discovery that differentiated cells in the body can be reprogrammed. This finding led to the development of “induced pluripotent stem cells.”

These cells were once skin or blood cells. Through a process of artificial reprogramming in the lab, scientists wipe these cells’ slates clean and return them to a state very similar to that of embryonic stem cells. But not exactly the same.

It has become clear that iPS cells can retain some memories of their previous state. This can make it easier to change an iPS cell that used to be a blood cell (for example) back into a blood cell, compared to turning it into another type of cell. The finding raised questions about iPS cells’ stability and whether http://www.troakley.com/ iPS cell generation – still a relatively new technique – would need some revamping for eventual clinical use.

Hotspots where iPS cells differ from ES cells

Chromosomal hotspots where iPS cells differ from ES cells

It turns out that iPS cells and embryonic stem cells have differing patterns of methylation, a modification of DNA that can alter how genes behave even if the underlying DNA sequence remains the same. Some of these differences are the same in all iPS cells and some are unique for each batch of reprogrammed cells.

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Alphabet of modified DNA keeps expanding

Move over, A, G, C and T. The alphabet of epigenetic DNA modifications keeps getting longer.

A year ago, we described research on previously unseen information in the genetic code using this metaphor:

Imagine reading an entire book, but then realizing that your glasses did not allow you to distinguish “g” from “q.” What details did you miss?

Geneticists faced a similar problem with the recent discovery of a “sixth nucleotide” in the DNA alphabet. Two modifications of cytosine, one of the four bases http://www.raybani.com/ that make up DNA, look almost the same but mean different things. But scientists lacked a way of reading DNA, letter by letter, and detecting precisely where these modifications are found in particular tissues or cell types.

Now, a team… has developed and tested a technique to accomplish this task.

Well, Emory geneticist Peng Jin and his collaborator Chuan He at the University of Chicago are at it again.

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Should you move your loved one with dementia into a nursing home?

Deciding to move a loved one into a nursing home is an incredibly difficult one. It is absolutely heartbreaking to send a parent, relative or close friend away to a nursing facility like the one at carltonseniorliving.com/community/pleasant-hill-downtown/ because we recognize that they are struggling in their day-to-day lives to take care of themselves as well as needing help through their medical conditions. As many people realize by the time that they are sending their loved one off to one of these facilities that there is already a very high likelihood that they will not return home. It is for this reason that we wholeheartedly believe in a proactive approach to providing the best quality of life possible for your loved one living in senior home care that goes far beyond merely meeting their basic needs in functional daily ways.

There are some important things you should consider when trying to decide the best option for you and your loved one.

Your loved ones’ views around going into care- We don’t want to force our loved one to do something against their wishes. It’s unusual for someone to want to go into a nursing home. When he or she is able to express any hopes and desires for how they want their life to play out in terms of moving to long-term care then it is important to try to honor them as much as possible without compromising the safety and health of everyone involved in the matter. You can let them see a community for seniors like terrazaseniorliving.com before deciding.

Your loved one’s current quality of life- If their quality of life is currently poor, particularly if this is due to not having enough day-to-day physical care, health care or emotional support, then moving into a nursing home might help meet their daily needs and allow them to meet their long-term medical goals while maintaining the best short-term stability for them while they adjust to their new living situation without forcing them to completely uproot themselves and re-adjust to a new way of life.

Availability of quality nursing home care- It’s emotionally easier to place a loved one in a memory care senior living home or popular independent living community like The Residences at Plainview – independent living community if carers are confident the home will provide suitable care. Early engagement is key to finding the best appropriate option for both you and the special people in your life when it comes to making sure your family member will be getting the nursing care that they need while continuing to enjoy a quality lifestyle in the time they have left.

When your loved one enters nursing home care like the one at terrazacourtseniorliving.com/assisted-living/your-home/, you’ll still be caring for them. You want to ensure you can continue to support your loved one emotionally and practically in partnership with the nursing home, even if you are not able to be there in person every day to watch over them yourself and ensure they’re doing OK. This is why working together with your service provider to identify ways of enhancing the quality of care for your loved ones during their stay is so important. You can visit this assisted living community in CA or sites like riverpointofkerrville.com for additional guidance.

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Stigma and shame block mental health treatment in Black community

As Dr. Sarah Vinson rotated through her first year of clinical work as a Child Psychiatry Fellow in the Department of Psychiatry and Behavioral Sciences at Emory, she quickly became aware that there are some significant roadblocks in getting people in the African-American community engaged in treatment for mental health problems.

Sarah Vinson, MD, Department of Psychiatry and Behavioral Sciences

“Misinformation, an absence of trust in the system, racism and financial circumstances are some of the forces that can create barriers in making appropriate decisions about seeking treatment,” says Vinson.

In order to take a step toward resolving the problem, Vinson created an online mental health outreach program targeting the Black community. The website serves as an anonymous resource for patients and their families, or anyone who is interested in finding out more about mental illness.

This user-friendly online program provides educational materials, offers links to professional organizations, lists mental health professionals and provides descriptions of different types of mental illnesses as they relate specifically to African-Americans. The website also includes an interactive forum where people can share experiences.

“The Black community’s traditional reluctance to discuss mental health and illness comes at much too high a cost,” says Dr. Vinson.

“People may be fearful of being misjudged by their churches and families, so they don’t discuss their problems,” she explains. “However, it is the support of family and friends that is largely responsible for a successful course of treatment; particularly when it comes to children and adolescents, or people with severe mental illness. Regrettably, when people access care without reinforcement from their loved ones, they often drop out before they are better.

“Untreated, mental illness can cause strained relationships, social dysfunction, and numerous other problems that can end up in divorce, unemployment, and suicide.”

Dr. Vinson is the recipient of an American Psychiatric Association/Substance Abuse and Mental Health Services Administration Fellowship, which provides funds for programming related to minority mental health.

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