The Wire

  • New tunnel, premium RV section at Talladega Superspeedway on schedule despite weather

    Excerpt:

    Construction of a new oversized vehicle tunnel and premium RV infield parking section at Talladega Superspeedway is still on schedule to be completed in time for the April NASCAR race, despite large amounts of rainfall and unusual groundwater conditions underneath the track.

    Track Chairman Grant Lynch, during a news conference Wednesday at the track, said he’s amazed the general contractor, Taylor Corporation of Oxford, has been able to keep the project on schedule.

    “The amount of water they have pumped out of that and the extra engineering they did from the original design, basically to keep that tunnel from floating up out of the earth, was remarkable,” Lynch said.

  • Alabama workers built 1.6M engines in 2018 to add auto horsepower

    Excerpt:

    Alabama’s auto workers built nearly 1.6 million engines last year, as the state industry continues to carve out a place in global markets with innovative, high-performance parts, systems and finished vehicles.

    Last year also saw major new developments in engine manufacturing among the state’s key players, and more advanced infrastructure is on the way in the coming year.

    Hyundai expects to complete a key addition to its engine operations in Montgomery during the first half of 2019, while Honda continues to reap the benefits of a cutting-edge Alabama engine line installed several years ago.

  • Groundbreaking on Alabama’s newest aerospace plant made possible through key partnerships

    Excerpt:

    Political and business leaders gathered for a groundbreaking at Alabama’s newest aerospace plant gave credit to the formation of the many key partnerships that made it possible.

    Governor Kay Ivey and several other federal, state and local officials attended the event which celebrated the construction of rocket engine builder Blue Origin’s facility in Huntsville.

HudsonAlpha researchers work toward incredible cotton improvements through genetics

(HudsonAlpha/Contributed)

Researchers at the HudsonAlpha Institute for Biotechnology have set out to make a better cotton through a series of research collaborations, grants and projects. These grants include sequencing “elite” cotton strains, sending cotton to space and conversations between students and astronauts.Genetics could transform the very ways we think of cotton and its uses. Scientists ask us to imagine colored cotton straight from the plant, which would reduce the environmental footprint of dye use. Fire-retardant cotton would come with major implications for consumer safety. Cotton might even be bred with natural antimicrobial compounds, which could revolutionize the medical industry by providing hospitals with linens and bandages that have antibacterial properties.

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With such bold visions, it’s easy to see why researchers have focused in on cotton for genetically guided improvement. A series of grants will allow researchers at the HudsonAlpha Genome Sequencing Center (HGSC) to move us ever closer to the cotton of tomorrow.

One project HGSC scientists will work on has them sending cotton to space. The idea is that cultivating cotton in zero gravity might alter the genetics or epigenetics of transformation in a visible way, giving scientists a target when compared to cotton cultivated on earth.

The HGSC provides high-quality whole genome sequencing and analysis in agriculture, having created more than half of all the high-quality reference genomes currently in circulation. Now the project team, led by Jeremy Schmutz, will sequence both the earth-grown samples and the samples that return from space, searching for differences on the genetic level. The effort is part of a collaboration with Christopher A. Saski, Ph.D., of Clemson University, funded by Target and the Center for the Advancement of Science in Space (CASIS).

However, it’s not the only cotton-based project on the radar for the HGSC. Schmutz is also heading a project funded by Cotton Incorporated that will compare elite cotton lines with a historical one. Breeders develop “elite lines” that they use as the basis for their crops, often because they are well adapted to the climate they’re grown in, particularly disease resistant or have some desirable traits. By comparing elite lines to a historical cotton reference genome, researchers hope to unveil the parts of the cotton genome that make the elite lines so desirable, making them easier to replicate and improve.

As far as education is concerned, Vice President of Educational Outreach Neil Lamb, Ph.D., will lead a student experience for a diverse group of students from local high schools. The Educational Outreach team will cover the basics of epigenetics, information about cotton and the specific details of the research project.

Students will have an opportunity to ask questions of researchers from both HudsonAlpha and Clemson. Lamb is also working with NASA to explore the possibility of linking students to the astronauts on the International Space Station for a conversation about how the experiments are carried out in space.

(Courtesy of Alabama NewsCenter)

Alabama based scientists help secure the future of chocolate

"Brazilian cocoa pods and beans, reddish-skinned cocoa fruit, tropical exotic fruit on a wooden background, cocoa plantations are located in south region of state of Bahia, Brazil."

People around the world consumed nearly 7.7 million tons of chocolate in the last year, but the cacao crop that supports the production of these sweets is under significant environmental threat.

Millions of cacao farmers in West Africa, Southeast Asia and Latin America feel the pressures of ever-increasing consumption, a changing climate and devastating fungal infections. In 2017, The New York Times declared that we have entered “a battle to save the world’s favorite treat.”

Scientists at the HudsonAlpha Institute for Biotechnology with the help of Mars Wrigley Confectionery have created the newest weapon in that battle — an improved reference genome to help researchers and farmers develop healthier, more productive cacao crops.

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Sweets Under Siege

The production of one of the world’s favorite delicacies relies on a particularly delicate plant. Cacao can only be grown within 20 degrees of the equator, and global studies suggest that the effects of climate change will shrink the farmland currently suitable for production even further. Increasing temperature and decreasing humidity in the areas that currently produce cacao will mean the crop must be grown at higher elevations.

Cacao also proves particularly vulnerable to fungi and diseases. It suffers from a number of menacingly-named blights, including frosty pod rot, witches’ broom, black pod and cacao swollen-shoot virus. One fear is that if any of these blights spread from its native region, it could sweep through global crops, devastating worldwide production.

The Newest Weapon in the War to Save Cacao

HudsonAlpha scientists have completed and released an updated reference genome for Theobroma cacao, the tree that produces cacao beans. With the help of funding from Mars Wrigley, HudsonAlpha researchers generated this new resource using advanced long-read sequencers, producing a more modern reference genome than the first version, which was completed in 2010.

A reference genome allows you to identify parts of the genome you wish to see carried through to the next generation of plants, like genes that promote drought tolerance, increase yield or improve disease resistance. Then, researchers can sequence each generation of selectively bred plants to quickly find which ones carry the desirable traits.

This most recent effort was co-led by HudsonAlpha faculty investigators Jane Grimwood, PhD, and Jeremy Schmutz. Schmutz said of the project, “As our technology improves, we’re able to produce more detailed, versatile reference genomes, which are critical for the kind of rapid crop improvement you want to see with cacao.”

Farmers have used selective breeding to improve crops for centuries. The process works by crossbreeding two plants, hoping to combine desirable traits and make hardier plants. Then you take the offspring that show those traits and breed them again. This selective breeding process takes time though, as you have to wait for each crop to reach maturity. A cacao tree, for example, takes about five years to start generating fruit.

A Better “Chocolate Tree”

Cacao trees, like many modern crops, do not show a lot of genetic diversity. Most of the cacao trees worldwide come from a handful of clones selected in the 1940’s. Because the trees are so closely related, they have similar genetic weaknesses. If a disease reaches a group of cacao trees that doesn’t carry any genetic resistance to that disease, it can destroy the entire crop.

“Having so little genetic diversity leaves the cacao tree vulnerable,” noted HudsonAlpha Faculty Investigator Jane Grimwood, PhD. “However, it also means that genes can be exchanged between trees, which gives researchers and farmers an opportunity.”

Using this new reference genome, researchers will be able to guide crossbreeding and hybridization efforts more quickly. That means traits like drought tolerance can be bred into a population faster and disease resistances can be introduced more efficiently.

The “chocolate tree” remains under threat, but now scientists and farmers alike have a more complete toolkit to produce more robust cacao crops.

About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to developing and applying scientific advances to health, agriculture, learning, and commercialization.

HudsonAlpha scientist gets grant to study on-off switch for gene implicated in Alzheimer’s disease

(HudsonAlpha/Alabama NewsCenter)

A grant from the BrightFocus Foundation will bring $200,000 to the HudsonAlpha Institute for Biotechnology with the goal of better understanding one of the key genes implicated in causing Alzheimer’s disease.

Nick Cochran, Ph.D., was awarded a Postdoctoral Fellowship Award from the Alzheimer’s Disease Research Program to study the MAPT gene with the ultimate hope of learning how the gene is turned on and off.

MAPT is the instruction set for a protein called tau. The accumulation of tau in the brain is linked to Alzheimer’s disease. If scientists can figure out what turns MAPT on and off, the gene could be deactivated to reduce tau and potentially help people with neurodegenerative disorders.

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“I watched the devastating effects of neurodegenerative disease ripple through both sides of my family, which drew me to work in this field,” said Cochran, a senior scientist in the Rick Myers Lab at HudsonAlpha. “Now I have the chance to expand science’s grasp on one of the most important genes involved in these diseases.”

“We could make a real difference here.”

Seeking tau

The cells in the brain that control thinking are called neurons, and in patients with neurodegenerative disease, the function of neurons gets disrupted. Tau, a protein, helps provide the structure for healthy neurons, but in Alzheimer’s disease, tau breaks away from that structure and clumps together.

This accumulation happens specifically in the regions of the brain involved in memory, though if a certain tipping point is reached in the disease, tau can spread rapidly through the rest of the brain.

“Reducing tau could provide relief for patients with Alzheimer’s disease,” said Cochran. “One way we might be able to reduce tau is to turn off the gene.

In order to turn that gene off, however, you have to know where to find the switch.

Gene expression

To understand adjustments to gene function, you first need to conceptualize how gene expression works. Instead of just an on-off switch, think of this more like a dimmer. The gene can be on or off, but it can also be bright or dim.

What Cochran hopes to assess is what parts of the DNA in neurons “brighten” or “dim” the tau-producing gene called MAPT. In order to do this, Cochran will isolate pieces of DNA that are geographically close to the MAPT gene, then test each one of those pieces individually to find which ones have an effect on tau production.

“One way we can test which regions are associated with tau production,” Cochran explained, “is to take neurons, where tau is highly expressed, and compare them to precursor cells, where tau barely gets expressed at all. We should be able to learn a lot from the differences between those cells.”

Mission funding

This funding from the BrightFocus Foundation allows Cochran to conduct the experiments necessary to isolate the genetic pieces that influence tau production. With a better understanding of what changes the expression levels of MAPT, researchers could take that knowledge and work toward a treatment that would reduce the amount of tau in the brain.

“Scientists have long thought that reducing tau could help patients with neurodegenerative diseases,” Cochran said. “We want to find new ways that may facilitate making that possible.”

(Courtesy of Alabama NewsCenter)

HudsonAlpha uses genetics research to improve one of Alabama’s biggest crops

(Pixabay)

Scientists at the HudsonAlpha Institute for Biotechnology, along with collaborators at the University of Georgia and USDA Stoneville, have created a reference genome for Arachis hypogaea, the species of peanut that has become an important food crop over the past 9,400 years.

By generating a reference genome and revealing the genetic mechanisms of the modern peanut, researchers at HudsonAlpha and their collaborators have helped speed the process of improving peanut crops.

Every year, roughly 44 million tons of this peanut are produced worldwide. Peanut crops play a major role in Alabama agriculture. Roughly half of the peanuts grown in the United States are grown within a 100-mile radius of Dothan. Alabama has nearly 1,000 peanut farmers. Alabama farmers produced 704 million pounds in 2017, ranking third in the U.S., according to the U.S. Department of Agriculture’s National Agricultural Statistics Service.

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Crop breeding helps put healthier, more productive plants in the hands of those farmers. The process can move much faster with the assistance of genetics. Researchers can plant crops, sequence them when the plants are still small, then pick which plants have the desired genetic traits – such as disease or drought resistance – and use them to create the next generation of crops. A reference genome gives those scientists a point of comparison, which makes the process possible. Otherwise, the plants must be grown all the way to maturity to determine which ones have the desired traits.

The research, made possible by funding from the Peanut Foundation, was recently published in Nature Genetics. With this reference genome, scientists can understand the history of changes that have occurred to the plant’s genetics in a relatively short time since the peanut became a crop plant.

Selective breeding in agriculture allows farmers to plant crops with greater water efficiency, drought resistance and yield.

“Sometimes we see peanuts lose resistance to key diseases and pests. With a reference genome, we can pinpoint where that happens, then our partners can selectively breed to prevent it,” said HudsonAlpha faculty investigator Jeremy Schmutz. “We found pieces of the peanut genome changing in a novel way, which could open up a much greater understanding of how crops change over time, allowing us to grow even hardier plants with less resources.”

(Courtesy of Alabama Newscenter)

HudsonAlpha Genomic Services Lab joins Discovery Life Sciences to form HudsonAlpha Discovery

(HudsonAlpha/Contributed)

The HudsonAlpha Institute for Biotechnology announced that the HudsonAlpha Genomic Services Lab (GSL) has signed an agreement with Discovery Life Sciences to form a new division of that company, HudsonAlpha Discovery.

The move will build on the success of the Institute in developing a top-of-the-line sequencing lab by adding the global reach of Discovery Life Sciences and its sales force. This expands the reach of the Institute and brings more high-quality biotech jobs to the thriving campus.

The HudsonAlpha Discovery division will be entirely on the HudsonAlpha campus and will continue providing its full line of services for the Institute’s research initiatives and external projects. Shawn Levy, Ph.D., director of the GSL, will continue in his role as a HudsonAlpha faculty investigator and will serve as Chief Scientific Officer, Genomics at Discovery Life Sciences.

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“When I came to HudsonAlpha nine years ago and founded the GSL, I knew I was coming to an institution that was dedicated to innovation and creativity. There was no doubt that HudsonAlpha was going to make great strides in the field of genomics,” said Levy. “It is exciting to build on the success the GSL team has had over the last nine years and take a new step with HudsonAlpha Discovery to broaden our capabilities and reach globally.”

Through the creation of HudsonAlpha Discovery, Discovery Life Sciences will be expanding its presence at HudsonAlpha, becoming the largest resident associate company. Over the next three to five years, it is anticipated that HudsonAlpha Discovery will create up to an additional 100 new job opportunities, building on North Alabama’s reputation as a biotech hub of the Southeast.

The associate companies on HudsonAlpha’s biotech campus range from entrepreneur-led to globally recognized. “This announcement is the latest success in HudsonAlpha’s story”, said Carter Wells, vice president for economic development at HudsonAlpha. “It started with the talented entrepreneurs of Conversant Bio, added HudsonAlpha’s ecosystem for associate company growth, merged with four other businesses through a strategic investment creating Discovery Life Sciences, and now adds the unique capabilities and approach of the GSL. This expansion will allow for so many around the world to benefit from the power of genomics.”

In addition to the human health-related value provided by HudsonAlpha’s research scientists and the resident associate companies, the impact to the state’s economy is stunning. Now eclipsing $2 billion since inception, the economic impact of HudsonAlpha continues to demonstrate that the model created by founders Jim Hudson and Lonnie McMillian works.

“The State of Alabama has been a partner with HudsonAlpha since its very beginning,” Gov. Kay Ivey said. “Discoveries through genomic research, educating our workforce, advancing genomic diagnostics and creating outstanding biotech companies are all part of the fabric of HudsonAlpha. As governor, I am proud to be a part of this latest success and cannot wait to see what the future holds for HudsonAlpha in Alabama.”

HudsonAlpha Discovery will combine with the current global biospecimen and analytic services of its parent company, Discovery Life Sciences, to provide the highest-quality clinically and scientifically annotated biospecimens, gene sequencing, bioinformatics and laboratory services to the global pharma, biotechnology and diagnostics industries.

“HudsonAlpha is such a collaborative campus and uniquely positioned for opportunities like this,” said Rick Myers, Ph.D., HudsonAlpha president and science director. “This is a great example of what happens when you have renowned researchers and entrepreneurs under one roof with a common goal of accelerating research to real-world applications.”

Established by Levy in 2009, the GSL rapidly grew to an innovative and internationally recognized genomics laboratory that has supported more than 4,700 projects and processed hundreds of thousands of samples for investigators around the world. Its projects have spanned basic, translational and clinical research areas and have contributed to the understanding of many complex disorders including various cancers, autism, ALS, bipolar disorder, schizophrenia, diabetes and rare and undiagnosed diseases.

“An integral component of our success in genetic and genomic research is our enthusiasm for collaboration, both within the institute and with other scientists around the world,” said Greg Barsh, M.D., Ph.D., HudsonAlpha faculty chair and faculty investigator. “These efforts will be further enabled by the global relationships that Discovery Life Sciences brings to the table, expanding a network of potential collaborators that benefits our ability to make life-changing discoveries at HudsonAlpha.”

Since inception, HudsonAlpha is home to significant entrepreneurial and economic development success stories. Companies have launched and thrived, many with HudsonAlpha’s research at the core. HudsonAlpha Discovery is the 10th and largest transaction on the biotech campus.

“HudsonAlpha Discovery is a great reflection of what Lonnie and I envisioned for HudsonAlpha,” said Jim Hudson, HudsonAlpha co-founder. “We wanted to encourage collaboration by aligning researchers with companies that are developing drug discoveries, therapeutics, diagnostics and treatments. This is a natural next step in accomplishing that mission.”

In just over a decade, HudsonAlpha’s campus has grown to include 40 biotech companies. One of the earliest companies, formerly known as Conversant Bio, became a part of Discovery Life Sciences in 2018. What started as two people in an office has experienced exponential growth to become the largest global biospecimen procurement company to support research in oncology and other life-threatening diseases.

“The HudsonAlpha Institute for Biotechnology is a remarkable place. We embrace its vision of advancing science and education to improve health around the world,” said Discovery CEO Glenn Bilawsky. “We are so very proud that the Institute selected Discovery to be the stewards of the Genomic Services Laboratory going forward, and of their investment in the future of our company. The HudsonAlpha Discovery platform is one of the largest global installations of the newest Illumina® NovaSeq technology, which gives us the scale, speed and quality to tackle the size and complexity of any sequencing project.”

(Courtesy of Alabama NewsCenter)

HudsonAlpha researchers link gene to rare disease through social media platform for genetics

(Alabama NewsCenter/Contributed)

Scientists at the HudsonAlpha Institute for Biotechnology have connected developmental delay and intellectual disability (DD/ID) to variations in the BRSK2 gene with the help of a social media platform used by geneticists all over the world.

Researchers in Greg Cooper’s lab recently published a paper in the American Journal of Human Genetics associating genetic variation in a gene called BRSK2 with neurodevelopmental disorders. They put together enough cases to make the link by assembling a cohort of affected individuals through a website called GeneMatcher.

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The Cooper Lab identified children with variations in BRSK2, all with developmental delay or intellectual disability, in the course of a Clinical Sequencing Exploratory Research (CSER) Project. HudsonAlpha’s CSER project is aimed at identifying the genetic causes of undiagnosed conditions by using genome sequencing, and is funded by the National Institutes of Health.

Through careful assessment of the CSER cases, researchers honed in on disruptions to the BRSK2 gene as a potential cause, but they wanted more instances to compare. That’s when they turned to GeneMatcher, a website from the Baylor-Hopkins Center for Mendelian Genomics, which allows researchers to input genes of interest and match with other scientists all over the world. Through the site, five more individuals with variations in the gene were identified and compared to one another. All nine individuals presented with delays, including speech and motor function, and many had diagnoses of autism, behavioral problems and other issues.

Statistical and biological analysis of the mutations in BRSK2, which contributes to brain development and function, confirmed the association of the gene with DD/ID.

“One main challenge for rare disease diagnosis is obvious,” said Greg Cooper, Ph.D., faculty investigator. “If the disease is rare enough, it’s hard to put together the number of cases we need to draw our most important conclusions. Being able to compare notes and share samples with researchers across the planet is an enormous asset. Our tools for collaboration give the HudsonAlpha Institute for Biotechnology a global reach — a way to solve medical mysteries all over the world.”

This CSER project was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number UM1HG007301. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

(Courtesy of Alabama NewsCenter)

HudsonAlpha and Crestwood ALS project underway to help patients and further genomic research

(Alabama NewsCenter/Contributed)

As many as 20,000 Americans live with ALS, and 15 new cases are diagnosed in this country every day. A new HudsonAlpha Institute for Biotechnology project is just underway in collaboration with Crestwood ALS Care Clinic, a National ALS Association Treatment Center of Excellence in Huntsville.

In this project, HudsonAlpha scientists will conduct genomic sequencing and analysis of ALS patients to better understand the underlying cause of the disease. The project is funded through donations made to Impacting ALS, which is part of the HudsonAlpha Foundation’s Memory and Mobility Program.

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ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.

Michelle Amaral, Ph.D., a senior scientist in the HudsonAlpha Myers Lab, is leading the project.

“Through genomic sequencing and analysis, we hope to identify genetic variants that contribute to ALS,” said Amaral. “We want to understand the mechanisms that cause the disease as well as the differences between sporadic and familial ALS. The ultimate goal is to discover biological targets that may be useful for the development of new treatments and therapeutics.”

Sherry Kolodziejczak, an occupational therapist and director of the Crestwood ALS Care Clinic/Cardiac Rehab/Therapy Services/Workers Program, said patients treated at the clinic report a higher quality of life and longer life expectancy.

“Our clinic manages each ALS patient case throughout the course of the illness. We have to prevent the crisis before they come, not when they get here, and that’s how we can prolong life and give good quality of life,” she said.

Led by co-medical directors David White, M.D., and Aruna Arora, M.D. (both neurologists), the Crestwood ALS Care Clinic is the only ALS Association Treatment Center of Excellence in Alabama. The Crestwood ALS Care Clinic is also a Northeast ALS Consortium (NEALS) site. The mission of NEALS is to rapidly translate scientific advances into clinical research and new treatments for people with ALS and motor neuron disease.

ALS patient Bryan Stone of Sylacauga, a NEALS ambassador for the Crestwood ALS Care Clinic, is happy to see that research is happening in Huntsville.

“It’s exciting to see the testing and the collaboration done here at home and that we can take part in it,” said Stone. “ALS has forced me into retirement and there are a lot of activities that I’m not able to do, but then again, it’s opened up other avenues for me to work with the ALS community and help others.”

“Crestwood ALS Clinic physicians and staff really go above and beyond to take care of patients,” said Pam Hudson, M.D., CEO of Crestwood Medical Center. “This hopefully will get to the cause of the disease so we don’t have to solely focus on the treatment.”

“HudsonAlpha collaborates with institutions all over the world. It is especially exciting to be working on a project like this in Huntsville,” said Rick Myers, Ph.D., HudsonAlpha president and science director, “so we appreciate Crestwood’s support and look forward to making even more advances in ALS.”

Additional donations are being accepted and will be used to enroll more patients who are battling ALS. Donations to Impacting ALS can be made at hudsonalpha.org/donate or to the HudsonAlpha Foundation at 601 Genome Way NW, Huntsville, AL 35806.

(Courtesy of Alabama NewsCenter)

HudsonAlpha researchers help identify genetic change that is causing Alzheimer’s, opening door for prevention efforts

Dr. Nick Cochran, left, talks with Dr. Richard Myers at HudsonAlpha Institute for Biotechnology. Scientists in Myers' lab helped analyze data for a study that yielded new information on a cause of Alzheimer's disease. (HudsonAlpha Institute for Biotechnology)

Scientists at the HudsonAlpha Institute for Biotechnology have helped identify a genetic change that is causing Alzheimer’s disease, expanding what we know about how the disease can be inherited and giving participants in the study an opportunity to join prevention trials.

Researchers looked at 93 members of a family in Colombia that had a history of inherited Alzheimer’s disease. They found that 26 of them had a never-before-identified mutation on PSEN1, a heavily studied gene known to cause Alzheimer’s. By discovering new mutations, scientists are better able to understand how the gene works as a whole.

Current drug trials aim to alleviate Alzheimer’s symptoms through early treatment, and in unique families like those identified in this study, there is the opportunity to start therapy years before symptoms begin. By identifying this mutation, scientists hope to give affected individuals the chance to participate in these trials early to maximize the chance of a therapeutic benefit.

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PSEN1 encodes an enzyme that works almost like scissors in the production of a protein called amyloid beta. When PSEN1 is mutated, the amyloid beta proteins wind up being too long, making them stickier, so they more easily form into plaques in the brain. Preventing the formation of those plaques may help alleviate symptoms.

This latest study recently appeared in Alzheimer’s and Dementia. Ken Kosik, M.D., of the University of California, Santa Barbara (UCSB), led the study along with Francisco Lopera, M.D., from the the University of Antioquia. HudsonAlpha scientists from the Richard M. Myers Lab assisted with analysis of the data.

“These large family studies give us an incredible opportunity to understand how Alzheimer’s works at a genetic level,” said Kosik. “Studying these early-onset cases — including people who are presymptomatic — give us a chance to really dig deep into what specifically is changing in the body, brain and genome to cause the degeneration. It also allows us an opportunity to try to ward off the worst of the disease.”

HudsonAlpha’s Nick Cochran, Ph.D., said, “This is another example of a large family study in Colombia producing promising results. These rare families continue to teach us about how this disease works, and as scientists, it is wonderful to have the opportunity to be able to help find answers for these families, and potentially even accelerate their involvement in clinical trials.” Cochran is a postdoctoral fellow in the Myers Lab.

HudsonAlpha’s ongoing collaboration with UCSB and Colombia is made possible, in part, by funding from the HudsonAlpha Foundation Memory and Mobility Program, which creates the opportunity for further sequencing and study of Alzheimer’s patients, with the aim of moving toward better understanding and treatment.

(Courtesy of Alabama NewsCenter)

HudsonAlpha scientists identify ‘poisonous’ piece of genetic code causing infant seizures

(HudsonAlpha Institute of Biotechnology)

Researchers at the HudsonAlpha Institute for Biotechnology in Huntsville have pinpointed a previously unknown cause of a serious seizure disorder most common in babies, potentially opening the door to new diagnostic and treatment options for infants who show signs of epilepsy.

They found the genetic cause hidden in the SCN1A gene, one of the most heavily studied genes for seizure disorders. The discovery offers an end to the diagnostic odyssey for affected patients, but it also reveals a genetic mechanism for disease that could uncover the cause of other genetic disorders that are not well understood.

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Scientists in Greg Cooper’s lab at HudsonAlpha, along with collaborators from across the country, published their findings in the American Journal of Human Genetics. They identified a variant that cues a “poisonous” piece of genetic code, called a poison exon, to be included in the final instructions for making a crucial protein. When the poison exon is incorporated, it prematurely cancels the protein’s production, which disrupts neural function, leading to seizure disorders.

The lab found the mutation on the SCN1A gene after performing whole genome sequencing for a patient who showed symptoms of a disease called Dravet syndrome, a serious seizure disorder that most commonly appears in infants. This particular variant would not show up on any of the more common genetic tests, and it was identified only because the entire genome was sequenced.

After this initial discovery, the Cooper lab contacted collaborators about the potential for more patients with the same variant. A team of scientists, including the University of Alabama at Birmingham’s Dr. Martina Bebin; the University of Washington’s Dr. Heather C. Mefford; and Northwestern University’s Gemma L. Carvill, was able to assemble enough cases to link the discovered variant to Dravet syndrome and other patients with closely linked symptoms.

The initial patient who brought the variant to the Cooper lab’s attention was enrolled in HudsonAlpha’s Clinical Sequencing Exploratory Research (CSER) project, which is aimed at identifying the genetic causes of undiagnosed conditions and funded by the National Institutes of Health.

“This particular subject that we identified in the NIH CSER project has done extremely well,” Bebin said. “Initially, they had several prolonged seizures yearly, which required treatment at the local ER. It was a frightening experience for the family.”

Bebin said the patient loves school, has been off seizure medication for more than three years and takes a keen interest in sports.

“The family is very grateful to understand the SCN1A diagnosis, and their child has done so well,” Bebin said.

“We’re grateful for the families who participated in this research, and excited that the results may offer some clinical benefits to them,” Cooper said. “But we’re also excited to have figured out a whole new place to look for genetic variants capable of causing disease.”

By discovering that genetic variation in poison exons disrupts crucial protein processes in the developing brain, Cooper’s lab and collaborators from across the country have created a blueprint for efforts to discover the molecular causes of other genetic diseases and potentially develop treatments for them.

(Courtesy of Alabama NewsCenter)