Category Archives: Genetic Medicine

Researchers have identified complement genes that appear to play a role in vision loss associated with multiple sclerosis (MS), and this finding could help researchers monitor and predict the progression and severity of MS, according to a study published in Brain.

Even though previous studies have identified gene variants associated with the risk of developing MS, until now, there have been no identified gene variants associated with MS severity.

Multiple sclerosis is a heterogeneous disease with an unpredictable course and a wide range of severity; some individuals rapidly progress to a disabled state whereas others experience only mild symptoms, the authors explained.

In 374 patients with all types of MS, the researchers used an imaging technique that allows them to assess damage to the nerve cells in the retina. Patients underwent an average of 4.6 scans between 2010 and 2017, and the authors reported that the rate of deterioration was a loss of 0.32 micrometers of tissue per year per patient, on average.

After they identified the patients who had the fastest deterioration rates, the researchers collected DNA through blood samples to identify genetic mutations. They identified 23 DNA variations that mapped to the complement gene C3.

Once they identified the variants, they analyzed DNA from blood samples of 835 patients with MS in an existing clinical trial who underwent periodic vision testing. The researchers noted genetic changes in the complement genes C1QA and CR1 in patients whose ability declined the fastest in the vision tests. Patients with mutations in C1QA were 71% more likely to develop difficulty with the vision test and patients with changes in CR1 were 40% more likely.

The authors plan to repeat the studies in larger populations and conduct animal studies investigating the function of complement proteins to better understand the mechanism behind their ability to kill nerve cells in patients with MS.

"Although we have treatments for the type of MS where symptoms come on in burstscalled relapsing-remitting MSwe don't have any way to stop the kind of MS in which the nerve cells start to die, known as progressive MS," Peter Calabresi, MD, professor of neurology and neuroscience at the Johns Hopkins University School of Medicine and codirector of the Johns Hopkins Precision Medicine Center of Excellence for Multiple Sclerosis, said in a statement. "We believe that our study opens up a new line of investigation targeting complement genes as a potential way to treat disease progression and nerve cell death."

Reference

Fitzgerald KC, Kim K, Matthew D Smith, Aston SA, et al. Early complement genes are associated with visual system degeneration in multiple sclerosis. Brain, 2019; 142(9):2722. doi: 10.1093/brain/awz188.

More here:
Researchers Identify Genes With Potential to Predict Progression and Severity of MS - AJMC.com Managed Markets Network

Conceptualised by Optimal Media Solutions, a division of the Times Group, Times Health Excellence 2019, is a platform to celebrate and honour outstanding achievements in Indian medicine. Optimal Media Solutions has over the years emerged as an integrated media solutions partner; going beyond conventional advertising, to provide customized and innovative options to clients.

The 2nd edition of this milestone event culminated in a glittering ceremony at Sheraton Grand Bangalore Hotel at Brigade Gateway, Yeshwantpur on 17th October 2019. The august gathering included the presence of distinguished guests and illustrious awardees from the field of medicine. Conceived as an innovative approach to document, disseminate and project new approaches that involve medical and health professionals, the event was envisioned to provide a boost to the way success stories are preserved and shared. As a part of this initiative, the pioneering contributions of some eminent medical practitioners were presented and applauded. Several thought provoking and enlightening presentations were made by renowned doctors, who are eminent practicing professionals.

The proceedings began with a brilliant presentation by Dr. Meenakshi Bhat, Professor & Mazumdar-Shaw Research Chair in Clinical Genetics, Centre for Human Genetics Bangalore. Her presentation titled Rare Genetic Disorders: Every Life Matters was an eye-opener on medical conditions that are largely ignored, but can be identified through medical advancements.

Dr. N K Venkataramana, Founder Chairman & Chief Neurosurgeon BRAINS, followed with an engaging presentation on Frontiers in Neurosciences. He spoke about the various developments in the field with regard to cutting edge services in prevention, awareness, advocacy, acute and chronic care, regeneration, rehabilitation, research and training.

Dr. Ann Agnes Mathew, Paediatric Neuromuscular Specialist, Sagar Hospitals Bangalore, then made a presentation on Inherited Muscle and Nerve diseases: Can India lead the world? that outlined the challenges faced in the industry.

Dr. Sandeep Nayak, Director of Surgical Oncology, MACS Clinic & Fortis Hospitals, Bangalore, made a presentation on the topic Revolutionising Cancer Care: Which Way Are We Heading? He spoke at length about several surgical innovations in oncology, which have changed the way the disease is tackled.

Dr. Mahendra S K, Senior Consultant Orthopaedic surgeon and Chairman, Matru Multispecialty Hospital, made a presentation on Orthopaedic surgeries, reviving quality of life...empathy above techniques. His inspiring speech highlighted several case studies, where those who suffering chronic conditions that had been given up on, were treated successfully with appropriate interventions.

Celebrity guest, Ms. Swara Bhasker, a popular Bollywood actress was also in attendance at the event. She added a touch of glamour with her gracious presence.

Those who were applauded at Times Health Excellence 2019, were trailblazers who have pushed all possible boundaries, and nurtured a passion for innovation, continuously seeking out ways to make things better for the holistic development of our nation. Their skill, talent, discipline has paved the way for many game changing initiatives and helped fuel their growth and strengthen Indias position in healthcare.

Our Sponsors: Premium Township Partner Karle Town Centre, Festive Gifting Partner LAL,Refreshed By Heineken 0.0

Disclaimer: Content Produced by Times Health Excellence

Here is the original post:
TIMES HEALTH EXCELLENCE 2019 - HONOURING OUTSTANDING CONTRIBUTIONS IN MEDICINE - Times of India

Dashing through the snow at 25 miles an hour,Heather Huson97 got her first thrill as a musher at age 7. From then on, she was hooked on dog sledding, and raced competitively for almost 30 years throughout North America.

By the end of her racing days, she had competed twice in sled dog racings equivalent to the Olympics the International Federation of Sleddog Sports World Championships. And she ended her racing career with a bang, winning an extremely competitive six-dog class race at the 2004 Tok Race of Champions in Tok, Alaska.

Heather Huson shares time with a sled dog at the Baker Institute.

Now an assistant professor of animal science, Huson is co-leader of a $4.2 million project studying close to 100 Alaskan sled dogs between the ages of 8 and 13, former athletes past their glory days. The study, which began in 2018, is a quest for one of the holy grails of medicine: how to slow aging.

This project allows me to work with sled dogs again, but now Im studying their aging and health, said Huson, a molecular geneticist in the College of Agriculture and Life Sciences.

Huson and co-leaderDr. John Loftus, assistant professor of small animal medicine in the College of Veterinary Medicine, are trying todetermine whether a drug that inhibits an enzyme called reverse transcriptase can mitigate aging and extend life in older dogs. Private donations fund the project through the Vaika Foundation, a nonprofit group of scientists and veterinarianson a mission to extend the health and life span of domestic animals.

The project will serve as a proof of principle for whether reverse transcriptase inhibitors could be an elixir. If confirmed, new finely tuned drugs could be developed for both dogs and humans.

While we love dogs, and we care about extending the life span of dogs for its own right, this is also a really good model for people, hopefully, in the future, Loftus said.

Genetics of aging

Other researchers, including project collaborators at the Roswell Park Comprehensive Cancer Center in Buffalo, New York, have found evidence in mice that reverse transcriptase inhibitors suppress tumors and extend life span.

The next step was to go to a model organism thats more closely related to humans in similar environments, and more similar to the types of diseases that people get, Huson said.

While we love dogs, and we care about extending the life span of dogs for its own right, this is also a really good model for people, hopefully, in the future.

John Loftus

In mammals, viruses that infected distant ancestors left behind some of their DNA, which are called genetic elements.

As we age, were finding these normally dormant DNA elements get turned on and then behave like viruses in the body, said Loftus, a veterinarian and researcherwho leads the immune system analysis on this project.When DNA elements get turned on, they can encode [for] a number of proteins, and reverse transcriptase is one of them.

In turn, reverse transcriptase plays a role in duplicating more of these genetic elements, which become randomly inserted in the genome and can lead to mutations and cancer.

And since these elements act like viruses in cells, they also trigger an immune response, which creates inflammation.

The federally approved drug being tested in the sled dog project is commonly prescribed to people for viral infections.

Our approach is going to be to give the dogs a reverse transcriptase inhibitor to turn the transcriptase off, Loftus said, and hopefully reduce inflammation, reduce the incidence of cancer and other diseases related to mutations and DNA damage, and ideally increase life span.

Heather Huson watches as a sled dog runs during play time in a fenced field at the Baker Institute for Animal Research at Cornell.

Why Alaskan sled dogs?

Dogs offer many advantages over mice as research subjects. They share with humans similar lifestyles and aging-related diseases like cancer and cognitive dysfunction, and serve as a model for studying Alzheimers disease.

Originally, the researchers proposed to study pet dogs. But maintaining a uniform diet for all participants and trusting owners to administer the drug consistently proved too unreliable.

We had the idea instead to create a colony of dogs we had control over, Huson said. They realized athletic dogs were housed in groups, in kennels, and as they age, owners kept their best dogs and often sold the rest to hobbyists or as pets.

So that gave us an avenue for how we could get these dogs, Huson said.

For her doctorate, Huson studied the genetics and selective breeding in Alaskan sled dogs at the University of Alaska, Fairbanks. She discovered that sled dogs are a genetically distinct breed. They have undergone intense selection for such traits as athleticism, but at the same time are subject to an open breeding scheme,with a diverse gene pool that makes for fewer genetic issues and diseases than pure breeds.

John Loftus greets a sled dog at the Baker Institute for Animal Research.

Yet they create a unique population that is still homogenous that we can study and say, this response to the drug is potentially related to the drug and not because its a poodle versus a beagle, Huson said.

In late May 2018, Huson and Loftus began acquiring dogs, which they kenneled at the Baker Institute for Animal Research at Cornell. Huson traveled twice to Alaska, and she and others, including students, picked up dogs from Canada, Michigan, Minnesota, Oregon, Washington and other states.

Locating dogs and bringing them to the Baker Institute required countless cross-country trips on planes and by vehicle. By September 2018, they had 102 dogs for the study. In March 2019, the researchers collected the firstbaseline data.

Testing aging over time

To test the drugs effectiveness, Huson and Loftus have been quantifying aging in the dogs every six months through three avenues immune function, behavior and physical condition. All the tests are noninvasive or minimally invasive.

They are testing two types of immune responses: adaptive responses that react quickly to infections; and innate responses where the immune system recognizes and delivers specific antibodies to fight a pathogen that previously entered the body. They are also checking blood for increases in markers for inflammation.

Four cognitive dysfunction behavioral tests involve an empty behavioral testing room with a video camera to record lone dogs as they encounter such things as a stranger sitting still in a chair, a familiar or novel toy, or a mirror.

Heather Huson racing in an Alaska Dog Mushers Association Challenge Series race in 2005 at the Jeff Studdard Sled Dog Race Track in Fairbanks, Alaska.

For physical tests, dogs are fitted with a racing harness and are trained to run on a treadmill with heart rate and electrocardiogram monitors. The treadmill has special sensors under the belt to record the pressure of each footfall, to detect limping that could come with arthritis. Another test times dogs as they pull one-and-a-half times their weight a distance of 40 yards using a pull harness.

It will take years to gather enough data for the researchers to make a definitive statement about the drugs effects. But funds have already been allotted to provide the dogs with a high quality of life until they die of natural causes.

Twice a day the dogs go outside for play time. As soon as the kennel doors open, the dogs, tongues flapping, scurry excitedly down a long hallway toward the light of an open door that leads to three separate fenced fields where they play, run, sniff the grass and greet the student volunteers outside.

It reminds Huson of her childhood, when her family owned as many as 50 sled dogs.

I used to train dogs to run all the time, Huson said. Now were training them to run in a slightly different scenario. Its fun and rewarding. And, its therapy for us.

See the original post:
Sled dogs lead the way in quest to slow aging - Cornell Chronicle

Will we one day combine tardigrade DNA with our cells to go to Mars?

Chris Mason, a geneticist and associate professor of physiology and biophysics at Weill Cornell University in New York, has investigated the genetic effects of spaceflight and how humans might overcome these challenges to expand our species farther into the solar system. One of the (strangest) ways that we might protect future astronauts on missions to places like Mars, Mason said, might involve the DNA of tardigrades, tiny micro-animals that can survive the most extreme conditions, even the vacuum of space!

Mason led one of the 10 teams of researchers NASA chose to study twin astronauts Mark and Scott Kelly. After launching in 2015, Scott Kelly spent almost a year aboard the International Space Station while his twin brother, Mark Kelly, stayed back on Earth.

Related:By the Numbers: Astronaut Scott Kelly's Year-in-Space Mission

Geneticist Chris Mason discusses the genetic effects of spaceflight at the 8th Human Genetics in NYC Conference on Oct. 29, 2019.

(Image credit: Chelsea Gohd/Space.com)

By comparing how they biologically reacted to their vastly different environments during that time, scientists aimed to learn more about how long-duration missions affects the human body. Mason and the dozens of other researchers who worked to assess the genetic effects of spaceflight uncovered a wealth of data that has so far revealed many new findings about how space affects the human body.

Researchers hope that this work, which continues today, might inform strategies to support astronaut health on future missions. Mason discussed some of the results of this research at a talk at the 8th Human Genetics in NYC Conference on Oct. 29.

In addition to the research Mason discussed at the conference, these researchers are working on seven more papers incorporating the data from the twins study. However, they also hope to use new data from a larger sample.

"We want to do some of the same studies, longitudinal studies, with people on Earth, people in space," Mason told Space.com at the conference.

By studying, specifically, how certain genes are expressed during the different stages of spaceflight (including the intense return to Earth), these research efforts could support future efforts to mitigate the dangers of spaceflight, Mason said.

For instance, if further studies were to confirm that landing back on Earth were harmful to the human body, scientists could develop ways to prevent those detrimental effects. But with such a small body of data (the twins study was just two people), scientists aren't ready to prescribe any specific treatment or preventative medicine to alter how humans genetically react to spaceflight.

"I think we do what is normally done in science We see something interesting; let's try it in mice first," Mason said.

He noted that they might not even find it necessary to prescribe anything to alter the effects they've seen in astronauts like Scott Kelly. "Some of those changes, even though they're dramatic, maybe that's how the body needed to respond," Mason said.

Related: Space Radiation Threat to Astronauts Explained (Infographic)

While, Mason noted, future astronauts might be prescribed medicine or other tools to help to mitigate the effects which they've uncovered with this research. However, new studies are investigating how tools such as gene editing could make humans more capable of traveling farther into space and even to planets such as Mars.

One of the main health concerns with space travel is radiation exposure. If, for example, scientists could figure out a way to make human cells more resilient to the effects of radiation, astronauts could remain healthier for longer durations in space. Theoretically, this type of technology could also be used to combat the effects of radiation on healthy cells during cancer treatments on Earth, Mason noted.

However, the idea of tinkering with human genes is controversial. But Mason emphasized that there will likely be decades of research completed before this kind of science is applied to humans.

"I don't have any plans of having engineered astronauts in the next one to two decades," Mason said. "If we have another 20 years of pure discovery and mapping and functional validation of what we think we know, maybe by 20 years from now, I'm hoping we could be at the stage where we would be able to say we can make a human that could be better surviving on Mars."

But what does it mean to genetically engineer a person to better survive in space or on another planet? There are multiple possible approaches.

One way that scientists could alter future astronauts is through epigenetic engineering, which essentially means that they would "turn on or off" the expression of specific genes, Mason explained

Alternatively, and even more strangely, these researchers are exploring how to combine the DNA of other species, namely tardigrades, with human cells to make them more resistant to the harmful effects of spaceflight, like radiation.

This wild concept was explored in a 2016 paper, and Mason and his team aim to build upon that research to see if, by using the DNA of ultra-resilient tardigrades, they could protect astronauts from the harmful effects of spaceflight.

Genetically editing humans for space travel would likely be a part of natural changes to the human physiology that could occur after living on Mars for a number of years, Mason said. "It's not if we evolve; it's when we evolve," he added.

While changes to the human body are to be expected as our species expands off-Earth, there is a way to do this science responsibly, Mason said. "In terms of a question of liberty, you're engineering it [a future human] to have lots more opportunities, again assuming we haven't taken away opportunities," he said. "If we learned that, in some way, when we decided to try and prove the ability of humans to live beyond Earth, and we take away their ability to live on Earth, I think that would be unjust."

Genetically engineering humans could be ethical if it makes people more capable of inhabiting Mars safely without interfering with their ability to live on Earth, Mason said.

Follow Chelsea Gohd on Twitter @chelsea_gohd. Follow us on Twitter @Spacedotcom and on Facebook.

Need more space? Subscribe to our sister title "All About Space" Magazine for the latest amazing news from the final frontier!

(Image credit: All About Space)

The rest is here:
Can We Genetically Engineer Humans to Survive Missions to Mars? - Space.com

A company developing a means to edit RNA has raised more than $30 million in a venture capital funding round.

Seattle-based Shape Therapeutics, or ShapeTx, said Tuesday that it had raised a $35.5 million Series A financing, led by New Enterprise Associates and with participation from CureDuchenne Ventures. The company said it plans to use the money to build up its intellectual property, hire scientists and advance its RNA and protein-targeting technology, which it describes as being aimed at curing genetic diseases.

The company describes its technology, RNAfix, as allowing for direct in vivo targeting and modification of RNA by using engineered adeno-associated viruses, suppressor tRNAs and proteins like adenosine deaminases acting on RNA, or ADARs.

ShapeTx further said that RNAfix differentiates from other contemporary genome engineering technologies by using natural human cellular machinery to modify RNA. It says its system avoids the risk of in vivo immunogenicity and permanent off-target damage commonly associated with CRISPR/Cas9 gene-editing approaches, which as of late have grown to become the most common means of gene editing in the context of human diseases, with an increasing number of therapies in the clinic or moving toward it. The companys website states that its technology has been validated in numerous in vivo disease models i.e. in animal studies though it has not tested them in the clinic.

One rarely comes across a proprietary technology platform with such a transformative potential led by a focused and data-driven scientific group with a successful track record in pre-clinical and clinical development, NEA partner Ed Mathers said in a statement. The team has shown us an exciting demonstration of the technology in multiple in vivo models, alongside one of the strongest IP estates we have seen in the field.

Other companies have also been exploring cleaner methods of gene editing beyond CRISPR/Cas9. Among these is Beam Therapeutics, which is developing base editing technology to enable genome editing at the single-letter level. Last week, it formed an agreement with Prime Medicine founded by one of Beams own co-founders to in-license a related technology called prime editing. Prime editing would enable correcting primary genetic causes of diseases for example sickle cell disease or Tay-Sachs disease without creating too many unwanted effects.

Photo: Natali_Mis, Getty Images

See the article here:
Shape Therapeutics raises $35.5M Series A round to develop RNA-based gene editing technology - MedCity News

Cards representing AIDS victims are held aloft during a 1983 interdenominational service in New York's Central Park. Charles Ruppmann/NY Daily News via Getty Images hide caption

Cards representing AIDS victims are held aloft during a 1983 interdenominational service in New York's Central Park.

When Morning Edition first went on the air on Nov. 5, 1979, AIDS was an unknown acronym. And the ideas of a cloned mammal or a map of human DNA may as well have been science fiction.

But much has changed in the past four decades. During that time, spectacular advances across the scientific disciplines have had a major impact on the way we live today.

In 1981, Morning Edition aired a story about a strange set of cancers called Kaposi's sarcoma.

"In the last three months, 28 cases of Kaposi's sarcoma have been reported in this country, all occurring among gay men, most of them young," Laurie Garrett reported.

No one knew it at the time, but those cases were the first indication of the AIDS epidemic that was to come. And that story was the first mention of the disease on NPR.

At first, AIDS was largely viewed as a disease of gay people. But it was never only that, a fact that hit home to many people in 1991 when basketball star Earvin "Magic" Johnson who was married and heterosexual announced to the world that he was infected with HIV, the virus that causes AIDS.

When he made the announcement, Johnson also said he planned to live a long time, despite having the virus.

Many people were skeptical. HIV infection was frequently a death sentence in the early days of the epidemic.

But medical researchers had already found a few drugs that were helpful at keeping AIDS at bay, and now there are a bevy of options for treating HIV infection and AIDS. These days, HIV infection is typically a manageable disease and Johnson is still alive.

AIDS is just one of the diseases scientists have made progress controlling during the Morning Edition era. Now, parents can prevent many genetic diseases before a pregnancy is even begun. Genetic testing can ensure that only embryos not carrying a disease gene the cystic fibrosis gene, for example are implanted via IVF.

Almost all advances in genetic medicine rely heavily on a project to map and sequence all of the DNA in a human body.

But in 1986 when the idea was first proposed, many people, including many scientists, scoffed. Sequencing all 3 billion DNA base pairs in our 23 pairs of chromosomes was thought too Herculean a task.

A visitor views a digital representation of the human genome at the American Museum of Natural History in New York. Mario Tama/Getty Images hide caption

A few years later, the Human Genome Project was officially started, and in 2000, President Bill Clinton made this announcement at the White House:

"We are here to celebrate the completion of the first survey of the entire human genome. Without a doubt, this is the most important, most wondrous map ever produced by humankind."

Climate change is another topic that has been in the news for as long as Morning Edition has been on the air. As early as 1982, the show was reporting on scientists' concerns about what was then known as the greenhouse effect.

A researcher submerges his arm in melted Arctic ice in Barrow, Alaska. David L. Ryan/Boston Globe via Getty Images hide caption

"In the past year, scientists have presented evidence that the polar ice caps are slowly melting," Lili Francklyn reported in a story from that year. "And some researchers feel that we'll see climate changes within the next decade."

For a while, climate change seemed to be a nonpartisan issue. In 2008, Republican Newt Gingrich and Democrat Nancy Pelosi recorded a TV commercial together in which they say they "do agree our country must take action to address climate change."

But by 2017, that consensus had almost totally broken down. President Trump, who once famously called climate change a "hoax," announced that the United States would withdraw from the Paris Agreement that committed countries to taking steps to slow the rise of global temperatures. The U.S. formally requested withdrawal earlier this week.

Before the introduction of the personal computer, mainframe computers were the norm. The IBM System/370 mainframe computer, introduced in 1970, was one of the first computers to include "virtual memory" technology. Getty Images hide caption

Of all the transformative scientific advances in the past 40 years, perhaps the one that has affected the most lives is the rise of the Internet. Developed initially with support from the U.S. Department of Defense and then the National Science Foundation for national security and scientific research, the Internet now connects the world as never before.

When Morning Edition first went on the air, few people, if any, would have imagined that companies like Google, Facebook and Amazon would come to be part of the S&P 500. At the time, computers were mainly used by enthusiasts, scientists and engineers.

An announcement in 1981 from an industry executive signaled that computers were going mainstream.

"Well, today I'm pleased to tell you that we're introducing the IBM personal computer. It's a landmark announcement for our division and our company and we believe it will set a new standard for the industry," said George Conrades of IBM.

That people would carry small devices in their pockets capable of connecting them to the world would also have been unthinkable. Yet today more than 2 billion people own smartphones, and the number is growing rapidly around the world.

Indeed, when Morning Edition went on the air in 1979, you had to live near a broadcast tower in the United States in order to hear the program. Now you can tune in from a cafe in Kathmandu or a bar in Barcelona, and for that, you can thank the Internet.

More here:
How Science And Technology Have Changed During 'Morning Edition' - NPR