StemCell Therapy

Galleries and exhibitions

The Kirkland Library, 17100 Hymus Blvd. in Kirkland, presents an exhibit of paintings by Karel de Zeeuw starting Saturday and continuing to March 29. Vernissage on Sunday from 2 to 4 p.m. Call 514-630-2726, local 3216.

The Dorval Museum of Local History and Heritage, 1850 Lakeshore Dr. in Dorval, presents the exhibition Headlines, which explores the history of womens issues in Canada through an innovative lens, with a collection of more than 60 hats from different eras. Continues until May 10. Call 514-633-4175.

The Stewart Hall Art Gallery, 176 Lakeshore Rd. in Pointe-Claire, presents the exhibition Material, Mass and Dust, starting Saturday and continuing to April 19. Vernissage on Sunday from 2 to 4:30 p.m. Call 514-630-1254.

Montreal Aviation Museumon McGill Universitys MacDonald campus, 21111 Lakeshore Rd. in Ste-Anne-de-Bellevue, is open to the public Saturday-Tuesday from 10 a.m. to 3 p.m. Call 514-398-7948 or visitcahc-ccpa.com.

Lakeshore Light Opera presents Iolanthe by Gilbert & Sullivan until March 14 at Lakeside Academy, 5050 Sherbrooke St. in Lachine. For tickets ($15 to $30) visit llo.org or call 514-804-4900.

Demystifying Art: David Armstrong Six. Lecture with the artists on March 18 from 10 to 11 a.m. at the Stewart Hall Art Gallery, 176 Lakeshore Rd. in Pointe-Claire. Free. Call 514-630-1254.

Murder Mystery Dinner Theatre A Grand Murder written and directed by Steve Gillam on March 28, April 4, 18, 25 and May 2 at 6 p.m. at Dorval-Strathmore United Church, 310 Brookhaven Ave. in Dorval. Tickets: $40, $35 for seniors/students. Call 514-793-9879 or email dsuc13churchevents@gmail.com.

St-Eugene: Suburb Lights (Cabaret Nights). Indie-folk band from Montreal on Friday at 8 p.m. at the Peter B. Yeomans Cultural Centre, 1401 Lakeshore Dr. in Dorval. Tickets: $20. Visit ville.dorval.qc.ca.

Solstice. World music with Montreal-based Celtic folk band Solstice on March 15 at 3 p.m. at the Pointe-Claire Cultural Centre, 176 Lakeshore Rd. in Pointe-Claire. Free, but passes required. Call 514-630-1220, local 1774.

Ensemble stn: In the Shadow of Mount Damavand (Divertissimo Series) on Sunday at 11 a.m. at the Peter B. Yeomans Cultural Centre, 1401 Lakeshore Dr. in Dorval. Tickets: $10, $5 for children aged 6-12, free for children five and under. Call 514-633-4175.

Orchestre Mtropolitain: A Tale of Two Cities. Classical grand concert on March 20 at 8 p.m. at Saint-Joachim Church, 2 Ste-Anne Ave. in Pointe-Claire. Tickets: $22, $16 for students/seniors. Call 514-630-1220, local 0.

Lakeshore Chamber Music Society presents Beethoven 250 with Elizabeth Dolin (cello) and Wei-Tang Huang (piano) on March 20 at 7:30 p.m. at Union Church, 24 Maple Ave. in Ste-Anne-de-Bellevue. Admission: $20, $15 for seniors (60+) and students, 16 and under admitted for free. Visit lakeshorechambermusic.org.

Lakeshore Chamber Orchestra spring concert on March 21 at 7:30 p.m. at Valois United Church, 70 Belmont Ave. in Pointe-Claire. Donation: $10, 18 and under admitted for free. Visit lakeshorechamberorchestra.ca.

St. Columba concerts presents a piano concert featuring Olivia Musat on March 28 at 7:30 p.m. at the Church of St. Columba by-the-Lake, 11 Rodney Ave. in Pointe-Claire. Donation: $15 (free for children). Call 514-364-3027.

Kirkland Concert Band, a community wind ensemble band, rehearse every Wednesday from 7 to 10 p.m. at the Kirkland Chalet, 81 Park Ridge Rd. in Kirkland. They are a group of amateur, volunteer musicians who play concerts in parks, senior residences and other locations with the goal of bringing music into the community. Visit kirklandconcertband.org.

Briarwood Presbyterian Church Choir is looking for singers to join their choir. The service is from 10 to 11 a.m. every Sunday at 70 Beaconsfield Blvd. Call 514-695-1879.

The Low Vision Self-Help Association meets on Wednesday from 1 to 3:30 p.m. at Briarwood Presbyterian Church, 70 Beaconsfield Blvd. in Beaconsfield. Topic: Adapting Our Home for Low Vision. All welcome. Call 514-694-2965.

Living with Arthritis. AWISH offers a series of 5-sessions with coping tips, nutrition, exercise, alternative therapies, etc. starting April 6 from 6:30 to 8:30 p.m. at Chalet Holleufeur in Kirkland. To register, call 514-631-3288 or arthritis@awishmontreal.org.

Lou Gehrigs Disease SLA/ALS Family Caregiver support group, offered by NOVA West Island, meets the first Monday of every month from 6 to 8 p.m. in Beaconsfield. Call 514-695-8335, local 205.

AWISH Montreal offers exercise for arthritis with a movement professional on Monday evenings from 6 to 7:30 p.m. at the Sarto Desnoyers Community Centre in Dorval. Classes ongoing. Free trial for first timers. To register, call 514-631-3288 or email arthritis@awishmontreal.org.

Compassionate Friends, an international self-help support group for bereaved parents, meets on the first Tuesday of each month. For information and support, call 438-257-0881.

Overeaters Anonymous, a 12-step recovery group for compulsive overeaters, anorexics and bulimics. No weigh-ins, dues or fees. Weekly meetings at various locations. Call 514-488-1812.

ANEB open support group for people (aged 17+) suffering from an eating disorder and their loved ones. Open to those suffering or living with an obsession of their body image, as well as support groups for their loved ones. The groups are confidential, free of charge and require no registration or long-term commitment. They are offered in English, on the West Island. Visit anebquebec.com/en/services/groupe-de-soutien-ouverts.

GRASP Grief Recovery After a Substance Passing. A free peer support group for people grieving the loss of a loved one to substance abuse meet every Wednesday from 7:30 to 9:30 p.m. in Beaconsfield. To register, call 514-898-1220 or email graspmontreal@hotmail.com or visit grasphelp.org.

LGBTQ2+ Adult & Seniors supper open to adult and seniors who are questioning their gender identity or sexual orientation every Thursday from 4 to 8 p.m. at Beaconsfield United Church, 202 Woodside Ave. Visit http://www.lgbtq2centre.com.

Al-Anon Family Groups. Compassionate help for family and friends of alcoholics. If you are troubled by someone elses drinking you can find help and hope in a friendly, supportive atmosphere. Call 514-866-9803, email aisarea88english@gmail.com or visit alanonalateenqcouest.org.

Adult ADHD Support Group West Island. For adults and their loved ones who have ADHD. They meet every second Thursday at 7:45 p.m. Call 514-773-9815 or email adultadhd.wi@gmail.com.

TOPS (Take Off Pounds Sensibly)is a low-cost non-profit organization that helps with weight-loss support. They meet every Wednesday at 7 p.m. at Cedar Park Chalet, 20 Robinsdale Ave., in Pointe-Claire. Visit tops.org.

West Island Cancer Wellness Centre. Compassionate support and programs such as yoga, massage therapy, counselling, and more. They work with your health care professionals to improve your well-being and their services help you manage the emotional and physical challenges that come from a cancer diagnosis. Open Monday to Friday from 8:30 a.m. to 4 p.m., except on Wednesdays until 8 p.m. at 115 Du Barry St. in Kirkland. All services are free. Visit wicwc.org or call 514-695-9355.

Gamblers Anonymousoffers help to anyone suffering from a gambling problem. Call 514-484-6666 or visitgamontreal.ca.

The Montreal Chapter of the Canadian Aviation Historical Society meets on March 19 at 11 a.m. at the Pointe-Claire Legion Hall, 365 St. Louis St. Viswanath (Vis) Tata will speak on CRJ 7001 the Untold Story. Cost: $5 includes light lunch. Call 450-463-1998.

The More You Know: Mangez local au rythme des saisons. With nutritionist and author Julie Aub who will discuss the advantages of eating food produced locally from Quebec all year round. Presented in French with bilingual question period on March 14 at 2 p.m. at the Dorval Library, 1401 Lakeshore Drive. Free. Call 514-633-4170.

Yoga for Your Face with Carole Morency on March 18 from 7 to 8:30 p.m. at the Pointe-Claire Public Library, 100 Douglas Shand Ave. Rejuvenate your face by strengthening and relaxing facial muscles through a series of small but specific movements. Free, but passes required. Call 514-630-1218.

Club Cycliste Beaconsfield. Season opener meeting for avid cyclists on March 27 at 7 p.m. at Holleuffer Chalet, 75 Charlevoix St. in Kirkland. This club is a volunteer run, non-profit organization composed of avid recreational cyclists in the West Island. An overview of upcoming activities for existing and new members (or interested parties) will be given. All West-Island road cyclists welcome. Visit clubcycliste.com.

Kirkland 55+ Club for seniors offers contract bridge sessions (no partner needed) every Sunday from 1 to 4 p.m. at 16950A Hymus Blvd. in Kirkland. They also offer duplicate bridge sessions (with partners) every Wednesday afternoon from 1 to 4 p.m. Cost: $4, $2 for members. Call 514-694-2435 or email haeri@videotron.ca.

Senior Mens Contract Bridge Club every Tuesday from 1 to 4 p.m. at the Edwin-Crawford Residence, 35 Maywood Ave. in Pointe-Claire. Cost: $5. No partner or commitment required. Call 514-697-4159.

Lakeshore Creative Stitchery Guild meets every Thursday from 9:30 a.m. to 3 p.m. and alternating Tuesdays from 7 to 10 p.m. at the Centre Nol Legault, 245 Lakeshore Rd. in Pointe-Claire. Visitors and beginners welcome. Visit lcsg-gtal.ca.

Rummage sale on Wednesday from 10 a.m. to noon at St. Johns United Church, 98 Aurora Ave. in Pointe-Claire.

Lenten lunches every Wednesday (until April 8) from 11:30 a.m. to 1 p.m. at Christ Church Beaurepaire, 455 Church St. in Beaconsfield. Cost: $8 includes homemade soup, bread, cheese, dessert, tea and coffee. Call 514-697-2204.

Book, bake and craft sale on Saturday from 10 a.m. to 1:30 p.m. at Valois United Church, 70 Belmont Ave. in Pointe-Claire.

Boutique 24 Thrift Shop is open every Thursday from 11:30 a.m. to 3:30 p.m. and the last Friday of each month from 6 to 9 p.m. at Union Church, Adair Hall, 24 Maple Ave. in Ste-Anne-de-Bellevue. Donations welcome. Call 514-713-5054.

Thrift Shops for NOVAoffer clothing for the whole family, footwear, books, household items, jewelry, etc. Thrift shop and used book shop,43 Ste-Anne St. in Ste-Anne-de-Bellevue. Call 514-457-1642.Thrift shopat 2750 St-Charles Blvd. in Kirkland. Call 514-697-6692.Furniture and Used Book Thrift Shop,449 Beaconsfield Blvd. in Beaconsfield. Call 514-694-8417.Boutique NOVA in Plaza Pointe-Claire.Boutique NOVA Hudson, 455 Main Rd. and a second new location 538 Main Rd. in Hudson. Call 450-202-6682.All are open from Tuesday to Sunday from 10 a.m. to 4 p.m. Donations welcome. Visitthriftshopsfornova.com.

The Teapot 50+ Centre, 2901 St-Joseph Blvd. in Lachine, needs volunteers to help out at their upcoming St. Pats Pub afternoon on March 18 from 10 a.m. to 4 p.m. Tasks include setting up the room, helping with food prep, serving and clean-up. This event provides members with the opportunity to socialize, celebrate and share a pint or two in a friendly, safe environment. Call 514-637-5627 or theresag@theteapot.org.

ABOVAS a non-profit organization that offers accompanied-transport for West Island residents going to medical appointments on the island of Montreal. If you need assistance and would like to use this service, or if you have a few hours to offer with access to a car and would like to volunteer, email info@abovas.com or call 514-694-3838, or visit abovas.com.

Volunteer West Islandmatches you with volunteer opportunities that suit your interests in the West Island. Visitcabvwi.org or call 514-457-5445, ext. 226. They are currently looking for the following:

Volunteer West Island is looking for Meals on Wheels volunteers for the Pierrefonds and Roxboro kitchens, two cooks for Pierrefonds as well as clean up help in Roxboro, Dorval and Ste-Anne-de-Bellevue. Ages 18+.

Volunteer West Island coordinates the Income tax assistance service offered at several West Island locations. We are looking for a receptionist for our Valois location, two half days per week for six weeks. Tasks include booking appointments and managing the flow of clients through the centre. 18 and up

The Low-Vision Self-Help Association, which meets the second Wednesday of each month in Beaconsfield, is looking for two volunteer drivers to bring members to the meeting, as well a volunteer to help with setting up the snack and the rooms tables & chairs. Ages 16+.

The Nova Adult Day Centre is always in need of volunteers to share time with a lovely group of adults through physical, sensory, reminiscence activities as well as music and song, dance, arts & craft, gaming, exercise, baking and pet therapy or any other topic that you would like to offer. The centre operates Tuesday to Friday from 9 a.m. to 2 p.m. Lunch provided. Minimum age: 18 years.

CROM, a rehabilitation centre for adults and children living with intellectual disabilities, autism spectrum disorders and/or physical disabilities, is looking for English or French speaking volunteers. They must be energetic, creative and fun and enjoy arts and crafts, games, homework help, to support parents with young children in their homes. Visits are 2 hours and can take place weekly or biweekly. Ages 18+.

Several West Island seniors residences are looking for friendly visitors for clients who have no family close by it makes a world of difference in their lives. Also needed are volunteers to help run the group activities with the recreation technician. Ages 16+.

West Island Citizen Advocacyis a Centraide/WICS community organization that matches those in need with volunteer advocates. Call 514-694-5850 or visit volunteerwica.com. They need:

A Dollard resident in her early 90s who loves plants would like to share some time with a female volunteer. She speaks Mauritian Creole and Hakka, as well as limited French. She is autonomous although has some trouble with mobility due to arthritis. She is very kind and enjoys socializing and would love to have a friendly visitor for a cup of coffee or tea. When weather is nice she would enjoy a walk to the nearby park or enjoy the fresh air in her backyard garden.

A Pointe-Claire lady in her 70s with some mobility problems would love the company of a female volunteer for some social support. She speaks French and English, loves swimming, dancing and using the treadmill. She has access to all these facilities but would love to be accompanied by someone. She is a very pleasant person to spend time with.

A friendly and sociable automotive engineer who lives in le-Bizardwould appreciate spending some time with a volunteer who can help him become more familiar with social media and using his computer. He is in his early 70, he speaks English and German, and he is very autonomous.

An English-speaking Pierrefonds lady in her late 70s would like a female volunteer to accompany her shopping this summer once a month. She is in a wheelchair but uses adapted taxi for transportation and the volunteer can accompany her in the taxi to and from the shop.

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West Island Community Calendar for the week of March 11 - Montreal Gazette

Dr. Leder, who more than 30 years ago became a co-holder of the first US patent on an animal, the OncoMouse, was 85 when he died Feb. 2 in his home in the Brookline part of Chestnut Hill of complications from Parkinsons disease.

In a tribute posted on a National Institutes of Health website, Dr. Michael M. Gottesman said Dr. Leder was among the worlds most accomplished molecular geneticists.

During Dr. Leders postdoctoral studies at the NIH in the early 1960s, he was recruited by Nirenberg to work on untangling the genetic code.

Their experiments definitively elucidated the triplet nature of the genetic code and culminated in its full deciphering helped set the stage for the revolution in molecular genetic research that Phil himself would continue to lead for the next three decades, wrote Gottesman, who is the NIHs deputy director for Intramural Research and chief of the Laboratory of Cell Biology at the Center for Cancer Research of the National Cancer Institute.

In a eulogy at Dr. Leders funeral, Dr. David Livingston, a Harvard geneticist, said he was brilliant, bold, very good-humored, and blessed with exceptional scientific insight and creativity.

Livingston, who had been Dr. Leders second research fellow at the NIH, added that early on, it became readily apparent that a natural eloquence infused his oral and written scientific discourse.

The groundbreaking research Dr. Leder and Nirenberg conducted came about in part because of the looming prospect of military service. Instead, he volunteered to serve in the US Public Health Service.

I got drafted, so I applied for a position in the Public Health Service, which supplied physicians and scientists to the National Institutes of Health in Bethesda, Dr. Leder said in a 2012 interview with a publication of the American Society for Biochemistry and Molecular Biology. A friend at NIH told me that I ought to meet Marshall Nirenberg because he was doing interesting experiments with the genetic code. Frankly, I didnt know anything about the genetic code. But I went to see Marshall, and he explained to me what he was doing and its importance.

Their research was in competition with work in another laboratory run by Severo Ochoa, a Nobel Prize-winner, and there was a mad race to the finish, Dr. Leder recalled.

I couldnt sleep for days at a time because of the excitement! I must admit it was very competitive; theres no question about that, he added. I would go to bed thinking about the next days experiments and then jump out of bed in the morning and rush to the laboratory. I stayed late at night. It was a lot of work but the intellectual excitement was enormous.

After about 18 years, Dr. Leder left the NIH at the outset of the 1980s to become founding chairman of Harvard Medical Schools department of genetics, where he stayed until 2008.

Working with Timothy Stewart in 1988, he was awarded the first patent on the OncoMouse, an animal genetically engineered to have a predisposition for cancer, which revolutionized the study and treatment of the disease, George Q. Daley, dean of the faculty of medicine at Harvard, said in a statement. Additionally, Phils research into Burkitts lymphoma was instrumental to understanding the origin of tumors with antibody-producing cells.

Dr. Leders many honors included the Albert Lasker Award for Basic Medical Research; the Heineken Prize from the Royal Netherlands Academy of Arts and Sciences; the US National Medal of Science; and the William Allan Medal from the American Society of Human Genetics.

For his many accomplishments, he was extremely modest. He really didnt like to talk about himself much, said his son Ben of Westwood. What he loved about science was the actual work, and thats what really motivated him.

Scientists such as Livingston, who worked with Dr. Leder early in their own careers, considered him a key mentor.

I shall miss Phil forever, Livingston said in his eulogy. Indeed, only rarely has a week passed when I havent thought of him. If the past is any prologue, my abiding hope will be that, when faced with a particularly potent scientific challenge, some of his mentoring magic will spontaneously take hold and point me in one of those special, Phil Leder-like directions.

Although Dr. Leders accomplishments were lasting, he began focusing more on family and subsequent generations as he neared and then entered his retirement years.

What a wonderful ride it has been, he wrote in 2001 for an anniversary report of his Harvard class. But I now see more clearly than ever before that whatever modest gift of knowledge my colleagues and I have been able to turn over to posterity, it has been poor by comparison to the thrill of seeing our grandchildren walk off into the future.

Born in Washington, D.C., on Nov. 19, 1934, Philip Leder grew up in Washington and in Arlington, Va., the only child of George Leder and Jacqueline Burke.

Dr. Leder graduated from Western High School in Washington and went to Harvard, from which he received a bachelors degree in 1956. He graduated from Harvard Medical School four years later.

In 1959, he married Aya Brudner. They had three children and worked together on research.

I continue to collaborate with my wife, Aya, in the remarkable field of molecular genetics, he wrote for the 40th anniversary report of his Harvard class. Lately, however, we find ourselves occasionally sneaking off to New Hampshire, where we have a second home, a canoe, snowshoes, and lots of opportunity to observe nature in real time.

A service has been held for Dr. Leder, who in addition to his wife, Aya, and son, Ben, leaves a daughter, Micki of Washington, D.C.; another son, Ethan of Bethesda, Md.; and eight grandchildren.

Ive discovered that great joy comes from grandchildren, Dr. Leder wrote 50 years after graduating from Harvard College.

Eight grandchildren, he added, can easily shrink a fairly successful career down to its appropriate proportions. In the next few years Ill retire from a life in genetics, which Ive loved, from the genetic code to the human genome. But I wont retire from those grandchildren, and I suspect that many of you feel exactly the same way.

Bryan Marquard can be reached at bryan.marquard@globe.com.

Continued here:
Dr. Philip Leder, Harvard researcher who illuminated the role of genetics in cancer, dies at 85 - The Boston Globe

Genetic variants that once protected ancient Arab nomads from the harsh desert environment may make modern Kuwaitis prone to metabolic disorders.

Modern-day Kuwaitis may suffer health problems thanks to genetic adaptations that once protected their Arab nomad ancestors from the harsh desert environment.Paulo Oliveira / Alamy Stock Photo Delving into the genetic history of a human population can help explain why some modern-day people have a greater propensity to certain diseases. One longstanding question is why Kuwaitis experience a high incidence of obesity and other metabolic syndromes.

Human genetic adaptation to extreme environments, such as high altitude and cold climates, has been increasingly explored in recent years, and I have always wondered about the adaptive trends in the desert-covered Arabian Gulf, says Muthukrishnan Eaaswarkhanth of the Dasman Diabetes Institute in Kuwait. We decided to explore adaptation in the Kuwaiti population using a genome-wide selection scanning technique, to see if we could find a stretch of DNA inherited from nomadic Arab ancestors that might explain contemporary health issues.

Eaaswarkhanth, with colleagues Fahd Al-Mulla and Thangavel Thanaraj, and co-workers in the US, analysed 662,750 genetic variants in 583 Kuwaitis. They searched for regions of the genome suggestive of positive selection over generations.

We used four different statistical methods to measure genetic variations that band together in a genome over time, and pinpointed differences both within the Kuwaiti population and compared with other global population groups, says Thanaraj.

Through this extensive analysis, the researchers identified a haplotype in Kuwaitis: a group of genetic variants that are conserved together as a sequence over time. This haplotype encompasses a single gene, TNKS, which has variations associated with metabolic disorders and high blood pressure.

In hunter-gatherer, nomadic populations, selecting for the TNKS haplotype provided a survival advantage, says Eaaswarkhanth. A rapid metabolic rate and higher blood pressure may have helped them survive extremely harsh environmental conditions and food scarcity in the Arabian Desert.

Crucially, the same DNA stretch becomes a killer during prosperous periods and under more sedentary lifestyles, leading to a modern-day population prone to obesity, diabetes, hypertension and cardiovascular disease.

Were extending this study to other Arabian Peninsula populations to fully understand the evolutionary story, says Al-Mulla. Further, we hope to conduct functional experiments that could help in disease diagnosis, management and prevention in the region.

More here:
Genetic adaptions can lose their benefit over time - Nature Middle East

Imagine computers taking over the world. This scenario has been the grounds for many movies such as The Terminator. The debate over whether AI is dangerous or not has been a popular topic since the birth of the technology. As Elon Musk cautioned at SXSW 2018, AI is far more dangerous than nukes.

The same can be said about CRISPR, the new genetic engineering tool with the potential to delay aging, cure cancer and forever change the human species for better or worse. While it has been slowly gaining traction in the media and was discovered as early as 1993, CRISPR remains widely unknown despite the magnitude of its potential.

In my work focusing on AI, carbon offsetting, blockchain and CRISPR, I'm seeking to understand the big problems that I believe we will tackle this century. I'm currently networking with promising biolabs in Japan to increase my CRISPR expertise, and I would like to share what I've learned.

Now is the time to start educating yourself about CRISPR, keeping an eye on the market and establishing yourself as an industry leader.

How have we already changed life itself?

We have been engineering life since the dawn of time through selective breeding, but after discovering DNA, scientists began to take the process to a whole new level.

In the 1960s and 70s, scientists used radiation to cause random mutations in the hopes of creating something useful by pure chance. Sometimes it worked. A famous 1994 example is the FLAVR SAVR tomato, which was given an extra gene to suppress the buildup of a rotting enzyme to increase its shelf life.

In 2016, the first baby was born using the three parent genetic technique for maternal infertility.

What is CRISPR?

CRISPR (clustered regularly interspaced short palindromic repeats) is part of bacteria's immune system against bacteriophages, viruses that inject their DNA and hijack bacterias genomes to act as factories.

When a bacterium survives this attack, it saves part of the genetic code of the virus to form a protein (e.g. Cas9), which in turn scans the bacterium's insides for virus DNA matching the sample. If it finds any, the virus DNA gets cut out, effectively repelling the attack. This DNA archive is what we call CRISPR.

Here's the game-changer: Scientists discovered that it is programmable. In other words, programming it will give us the ability to modify, add or remove DNA parts with relative ease. This has the potential to cut gene editing costs, reduce the time to conduct experiments and vastly lower the complexity of the process.

Its potential applications are not limited to genetic diseases, either. Being able to edit DNA is opening up research possibilities for fighting other diseases, including cancer. It has the potential to slow aging and extend our lifespan. It can alter our bodies, leading to talk that it could eventually give us superhuman powers.

Are ethical concerns warranted?

Just like GMOs, there is also a lot of controversy and ethical debate surrounding CRISPR. It is sometimes referred to as Pandora's box.

Every parent wants a healthy child, but once genetic modification becomes commonplace in reproduction, I predict it won't be long before purely aesthetic changes are requested. This could ultimately lead to a cliff between genetically enhanced and unenhanced humans, where designer babiesare considered superior.

We have come quite a long way since the initial discovery, but CRISPR is still in its infancy. As precise as Cas9 editing is, errors are being made. Should germinal genes be edited, these changes could potentially be passed on.

However, at this point, I do not believe the question is whether it is good or bad. We have already been altering human DNA and will continue to do so. In my opinion, improper regulations are only likely to incentivize less transparent research in a more dangerous environment.

What are some early stage best practices for industry leaders?

Progress is slow but steady. The topic is complex and is far less tangible than, say, blockchain. Investments will require very patient pockets, due to potential temporary bans on clinical research using CRISPR. But with the sheer magnitude of its potential, I believe there won't be any industry that won't be affected by it in the future.

If, like me, you're a business leader getting involved in this industry, there are a few best practices you can keep in mind. Should your regulator become too much of a roadblock for your project despite your best efforts to be transparent and compliant consider moving it to a different jurisdiction. I predict others will do the same if U.S. regulations become stricter and slow the process.

As with AI, it's important to apply necessary caution. Projects must be transparent and compliant with regulators. The danger, if regulators become too uncooperative, is that CRISPR projects will move to less regulated spaces. Avoid jurisdictions that turn a blind eye to riskier procedures and experiments.

I believe ethical concerns need to be addressed logically. We have already crossed many boundaries, and there will always be those who are willing to do what others are not. That's why it's in everyone's best interest to discuss ethical concerns and bring critical thinking as an active part of research and development.

Go here to see the original:
CRISPR: Its Potential And Concerns In The Genetic Engineering Field - Forbes

The rapid and frightening spread of the coronavirus has sparked a battle thats drawing on a host of emerging technologies. Government, industry and academic researchers are scrambling to improve our ability to diagnose, treat and contain a virus thats threatening to reach pandemic status.

This isnt the first time researchers have faced off against a dangerous member of this family of viruses. But it is the first time theyve done it with a toolbox that includes the gene-editing tool CRISPR and the emerging field of synthetic biology.

Indeed, weve known about coronaviruses for nearly 60 years. But for several decades, they attracted little attention, causing symptoms similar to the common cold.

That changed in 2003, when a deadly member of the coronavirus family, SARS-COV, spread to 29 countries, killing 774 people. Suddenly, a coronavirus found previously in animals had managed to jump to humans, where it killed nearly 10 percent of those infected. The virus sparked fear across the globe, but was brought under control within a year. Only a small number of cases have been reported since 2004.

Then in 2012 came MERS-COV. The virus emerged in Saudi Arabia, jumping from camels to humans. The virus has never caused a sustained outbreak, but with a mortality rate of35 percent, it has killed 858 people so far. Infections have been reported in 27 countries, with most in the Middle East. The virus is considered by the World Health Organization to be a potential epidemic threat.

Interestingly, neither of these previous coronavirus threats were stopped by a cure or a vaccine. MERS still lurks in the background, while SARS was contained by what amounts to old-school practices, according to a 2007 article in Harvard Magazine:

Ironically, in this age of high-tech medicine, the virus was eventually brought under control by public-health measures typically associated with the nineteenth centuryisolation of SARS patients themselves and quarantine of all their known and suspected contactsrather than a vaccine.

There currently is no cure for this new wave of coronavirus infections (the resulting disease is called Covid-19), even though some antiviral therapies are being tested and one experimental vaccine is ready for testing in humans. The virus genome has been sequenced and its genetic code may shed light on how the disease starts and spreads, as well as inform on potential pharmaceutical targets for drug development. The Covid-19 virus similarity to the SARS-COV may mean that cures developed for one strain may prove effective for the other. The Canadian company AbCellera plans to test its antibody technology, already tried against MERS-COV, to neutralize the Covid-19 viral bodies.

What is really encouraging is the level of international collaboration aimed to fight this health emergency. Funding bodies, scientific societies and scientific journals have signed a joint statement, agreeing to openly share research findings with the global research community as soon as they are available. The very quick information dissemination gave scientists around the globe several RNA sequences of the virus genome. And these sequences can be used to better understand the epidemiology and origins of the virus. Moreover, the advancements in DNA technology let research groups in academia and industry synthesize the viral genetic material to use in the two areas of focus: detection of virus and vaccine development.

One of the trickiest things about the coronavirus is its speculated transmission by asymptomatic patients. This increases the number of infections and makes containment measures less effective, spreading fears that the virus may establish a permanent presence in some areas. There are also fears that many incidents lie undetected, spreading the virus under the radar. As of March 9, the virus has infected more than 110,000 people, killing nearly 4,000, in 97 countries.

Several biotech companies have scrambled to provide kits and resources for early and reliable detection of the new coronavirus. Mammoth Bioscience, a San Francisco-based startup, is already working on a detection assay using their CRISPR technology. The DNA technology companies IDT and Genscript already distribute PCR-based kits for detection for research purposes. The Chinese companies BGI and Liferiver Biotech use the same PCR technology for the kits they provide to their countries health authorities.

The French-British biotech Novacyt announced the launch of a diagnostic kit for clinical use in middle February. The kit will also use quantitative-PCR, developed by their sister company Primerdesign. Its high specificity will reduce the analysis time to less than two hours. The companys CEO Graham Mullis told Reuters that each kit will cost around $6.50, and that they have already received more than 33,000 orders.

The only way to effectively control and even eliminate the outbreak is to develop a vaccine. Unfortunately, the new outbreak hasnt attracted the attention of the lead vaccine manufacturers. Non-profit organizations, such as the Coalition for Epidemic Preparedness Innovations (CEPI), have jumped in to fill the gap. But despite the emergency, a vaccine may be several years away from being available

The University of Queensland in Brisbane, Australia, announced that theyre working on a coronavirus vaccine which they hope to have ready within the next few months. The molecular clamp approach the Australian researchers have developed allows is designed to boost the immune system response and work against several viral infections. GlaxoSmithKline has offered is adjuvant technology adjuvants are added to vaccines to boost their efficiency to speed up the process.

The Cambridge, MA-based Moderna uses a different approach to make vaccines. Their mRNA technology is modular and very adaptable to use for a new disease or when the epitope (the vaccines target) mutates. The company says its vaccine is ready for human trials.

The Covid-19 outbreak has rightly gained the attention of health authorities and the media. If the virus were to reach countries with weaker healthcare systems than Chinas, the number of deaths will rise significantly and containment will be even harder. Moreover, the long incubation time of the disease, combined with the asymptomatic spread, make quarantine and isolation measures less effective. The biggest risk is for the new coronavirus to become endemic in certain areas, where the disease is never truly extinct and displays seasonal outbreaks. We dont want the Covid-19 to become a new flu.

The health authorities of 2020, the biotech industry, and the society in general are better prepared for a coronavirus outbreak than a few years ago. The situation is less risky than MERS and SARS, though the new virus is harder to contain. This outbreak offers a chance for everyone to become more aware of viral infections, the appropriate precautions and get vaccinated according to the official recommendations. And keep in mind that the best way to stay informed is through official sources, such as the WHO and the CDC.

As for the biotech industry, are they playing their part? The answer is a partial yes; there are several companies that immediately scrambled to help the situation. But the big players within the field could be doing more.

Kostas Vavitsas, PhD, is a Senior Research Associate at the University of Athens, Greece. He is also a steering committee member of EUSynBioS. Follow him on Twitter @konvavitsas

Originally posted here:
Fighting the coronavirus outbreak with genetic sequencing, CRISPR and synthetic biology - Genetic Literacy Project

"I walked into the geneticist's office, and she, with tears in her eyes, asked me how Riana's walking was doing, and she told me that (she) would lose her mobility, that she's been diagnosed with a really rare gene disorder: KCNB1," Francisco said.

"I think I blacked out after that. Nothing registered, literally."

Later, Francisco said she would remember being relieved that they knew what the problem was. Later still, even that small comfort would evaporate, as she realized how little was known about her daughter's newly-named disorder.

Renzo Guerrini is a professor of neuroscience at the University of Florence, Italy, and a leading expert in the study of epilepsy.

Reached by phone in Florence, he said KCNB1 is caused by a genetic mutation, and can be considered a spectrum disorder meaning that symptoms exist on a spectrum and can be more or less severe, depending on the person.

However, there are some common symptoms among the 70 patient-cases he's studied.

"All patients have developmental delay, and about 85 per cent also have epilepsy," he said.

In Riana Faith's case, she's also limited in how she can communicate. While she speaks a few words here and there, like asking for "bubbles" to play with, or demanding a "kiss" from mom, she also relies on a tablet-talker to help express herself. For instance, if asked what colour red was, she could point to a red object. But when asked what colour a red object was, she would say purple. With the tablet, she could press a button that would say "red" for her.

"That's a major feature which has been underlined,"Guerrini said. "About 50 per cent do not develop any language. They are non-verbal," he said, adding that all cases have a major language impairment of some kind.

Riana Faith is also extremely active. On a recent day home from school due to teacher strikes, the six-year-old bounced around the room, her attention careening from toys, to pens, to yogurt and whatever else she could grasp in the space of a few minutes.

She also loves to sing. Her mother calls her "the most patriotic girl ever" because she always tries to hum/sing along with "O Canada."

Ironically, some of the only time Riana Faith focuses is with the music blaring, the TV on in the background, while bouncing up and down dancing with her toy guitar and singing "we're gonna rock, rock, rock, rock, rock, and roll. Repetitively ..." Francisco said.

"I'm constantly apologizing."

As far as treatment is concerned, Guerrini said there isn't any specific treatment established for a KCNB1 diagnoses. Doctors have only known about the genetic mutation for about six years, and there isn't enough information to reach definitive conclusions.

"For example, in a centre like ours, which is one of the main centres in (Italy), we have seen seven cases," he said.

Likewise, Francisco says there are less than five cases in Canada, and she hasn't come across anyone focusing on KCNB1 research here.

So, while her doctors can try to treat symptoms, such as assigning medication for different types of seizures, there is no way to directly treat the disorder.

"And there's no indication that the behavioural problems, the language problems, can benefit from any specific program or type of approach," Guerrini said.

His recommendation for people with rare gene disorders is to take advantage of the internet, "start a club" where people with the diagnoses can share information, and get the word out about their struggle.

As someone struggling for answers, Francisco says she's already gone that route. Her daughter's story is posted to KCNB1.org, a website that tries to shed light on the disorder.

It was there the mother found comfort in reading stories from people with like experiences. For instance, other parents of children diagnosed with KCNB1 have said a complete loss of mobility may not be inevitable.

It was also in the KCNB1 community that she learned about an upcoming conference in Chicago, where Faith can get time with doctors specializing in her rare condition.

Francisco is hoping to raise $2,500 to cover the trip. You can click hereto be taken to her GoFundMe page.

Riana Faith might have everything she needs to be happy bubbles, some Splash'N Boots (a musical duo), maybe a pudding, if mom says it's OK. She's even been given a wish fund from the Guelph Wish Fund for Children, says executive director Sharon Rice.

But it's her mother who really stands to benefit from the Chicago trip.

"That's the thing, I don't want anyone to feel sorry for her. She is a very happy child. There's nothing I won't do for this kid," Francisco said.

"(In Chicago,) they're going to see our children, one-on-one. That, for me, I need."

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Mother of Guelph girl with 'rare' genetic mutation looks for help, and hope - GuelphMercury.com

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Magns Andersen

CEO of deCODE Genetics Kri Stefnsson (shown above) intends to screen the entire Icelandic population for COVID-19, of which there have been 60 confirmed cases at the time of this writing.

While almost all of these cases come from three flights returning from Italy and Austria, with the arrivals put in quarantine while testing is underway, the virus has unfortunately found its way into the general population.

Kris desire to screen the general population was not without controversy, as both the Data Protection Authority and the Scientific Ethics Committee initially believed Kri required a special permit in order to conduct the screening. However, Frttablai now reports that both bodies have reversed their position on the matter, as the screening is considered clinical work; not a scientific study.

In fact, a statement from deCODE emphasises that peoples personal data will not be permanently recorded nor put in the companys general knowledge bank. Rather, the purpose of the screening is meant to inform those who have symptoms whether or not they have COVID-19, in conjunction with the Directorate of Health, in order to assist already ongoing efforts.

This screening is expected to go forward within the next week.

Symptoms of COVID-19 include dry cough, fever, and aches in the bones. If you are worried you may have COVID-19, have been to any of the high-risk areas or in contact with anyone who has within the last 14 days, you are urged to call 1700 from an Icelandic phone number or +354 544 4113 from any other phone, where a health care professional will give you further information and guidance.

To prevent transmission or contact with the virus, the cardinal rule is to wash your hands frequently before eating and after touching common surfaces, and avoid touching your face. If you must sneeze or cough, do so into the crook of your elbow or into a tissue. It also naturally follows that you should avoid contact with sick people.

The Directorate of Health in fact has extensive information in English on COVID-19, including a handy FAQ.

Related

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From Iceland COVID-19 In Iceland: deCODE Genetics Will Screen General Population For Virus - Reykjavk Grapevine

Pupils' genetic data do not predict their educational outcomes with sufficient accuracy and shouldnt be used to design a genetically personalised curriculum or tailor teaching, according to a new University of Bristol study. The findings, which compared the genetic scores of 3,500 pupils with their exam results, are published in the journal eLife today [10 March].

Despite some claims that differences in pupils' genetic data could be used to 'personalise' their education or identify those who are likely to struggle or thrive at school, few studies have investigated how accurately genetic measures known as polygenic scores (which combine information from all genetic material across the entire genome) can predict future educational performance better than other measures of student aptitude.

To measure whether genetic data could predict a pupils achievement, researchers from the Bristol Medical School and the MRC Integrative Epidemiology Unit took genetic and educational data from 3,500 children in Bristols Children of the 90s study. They compared pupils polygenic scores with their educational exam results at ages 7, 11, 14 and 16.

Their analysis showed that while the genetic scores modestly predicted educational achievement at each age, these predictions were little better than using standard information known to predict educational outcomes, such as achievement at younger ages, parents educational attainment or family socioeconomic position.

Dr Tim Morris, the studys lead author and Senior Researcher Associate from Bristol Medical School, said: Our analysis shows that some pupils with a low polygenic score are very high performers at age 16. Some of those who would be predicted from their genes to be in the bottom 5% are actually in the top 5% of performers. This contradicts the notion that it is possible to accurately predict how well any one child will perform in education from their DNA.

At the population level, researchers found that children with higher polygenic scores, on average, had higher exam scores than those with lower polygenic scores. They add that polygenic scores can be informative for identifying group level differences, but they currently have no practical use for predicting individual educational performance or for personalised education.

Dr Morris added: Educational achievement is incredibly complex and influenced by a large range of factors including parental characteristics, family environment, personality, intelligence, genetics, teachers, peers and schools, and - often overlooked - chance or random events. This complexity will make it perhaps irresolvably difficult to accurately predict how well any one pupil will do from their DNA.

The best piece of information we currently have for predicting how well a pupil will perform is how well they did in school earlier in childhood. Where we don't know this, such as at the start of schooling, we can make better predictions about a pupils future educational performance by knowing how educated their parents are than by knowing their DNA.

The researchers conclude that genes are insufficient for reliably predicting educational achievement at an individual level. The study was funded by the Economic & Social Research Council [ESRC], the Medical Research Council [MRC] and the Wellcome Trust.

Paper

Can education be personalised using pupils genetic data? by Tim T Morris, Neil M Davies, and George Davey Smith in eLife

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March: Predicting educational achievement | News and features - University of Bristol

Institutes participating in the partnership include the Stanford University School of Medicine, the Fred Hutchinson Cancer Research Center, and Parker Institute for Cancer Immunotherapy.

The Cocoon platform is a closed automated cell therapy manufacturing platform enabling decentralized process development. A transportable cassette that internalizes all of the media, agents, and consumables used in the process is attached inside and the Cocoon closes and begins processing.

Each Cocoon develops therapy for one patient, therefore the technology is patient-scale, and the process can be scaled with many Cocoons, attached on Cocoon trees operating at the same time.

Under the agreement, Lonzas experts will work collaboratively with research teams of the partners to transfer some of their existing cell-based immunotherapies, which are in pre-clinical phase, to the Cocoon bioprocessing system.

Subsequently, the process development will be shared between the partners facilities and Lonzas R&D site in Shady Grove (MD), US.

Once these therapies enter the clinic, whether manufacturing is at the institutes or elsewhere, the Cocoon platform will enable this, Eytan Abraham, head of personalized medicine at Lonza, told us.

Asked about the potential immunotherapies examined, Abraham said that they target a combination of hematological malignancies, solid malignancies, and processes that use non-viral delivery of the gene of interest.

Use of the Cocoon technology can potentially benefit the organizations development projects in several ways, including increased process control, reductions in costs, manpower, time and space requirements, as well as offering superior scalability thereby enabling treatment of larger patient populations.

Further than that, Lonza expects the partnerships to help assess the technology and evaluate the platforms potential to manufacture a range of cell therapies comparable to those manufactured through other processes currently available.

Through these collaborations we are both showcasing the Cocoon advantages and capabilities, but also learning what is needed for decentralized based manufacturing of the next wave of patient scale cell therapies, Abraham told us.

He added that, accordingly, the company will continue to evolve the system to answer these needs, whether they increase cell numbers, improve in-process analytics, integration of additional technologies, such as magnetic cell separation and electroporation, or scaling technologies.

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Lonza partners with three institutes on Cocoon system - BioPharma-Reporter.com

The field of genomics has made fantastic progress in the fields of biomedical research and clinical development. This is good news for patients and excellent news for investors, as the field of genomics is expected to pay large dividends in finance in the coming decade.

Despite being a relatively new field in the space of biology research, genomics has made massive advances in science and medicine in the past few years. Research into the human genome has led to the development of personalized medicine, changing the clinical landscape for cancer treatment and rare genetic diseases, in particular. The cost associated with mapping one genome has dramatically dropped in a very short space of time, costing millions of dollars and years of effort at the start to now costing in the hundreds of dollars per sequence that is delivered in a matter of days. This has allowed worldwide entry into this space, and an explosion of new discoveries and advances.

The global genomics market size is expected to reach USD 31.1 billion by 2027, registering a CAGR of 7.7% over the forecast period, according to a new report by Grand View Research, Inc. Significant changes in disease management processes along with advancements in genomics and personalized medicine are expected to propel the market.

Grand View Research is a U.S.-based market research and consulting company, providing syndicated as well as customized research reports and consulting services. Headquartered in San Francisco, the companys analysts and consultants report in-depth analysis on 46 industries across 25 major countries worldwide. With the help of an interactive market intelligence platform, Grand View Research helps Fortune 500 companies and renowned academic institutes understand the global and regional business environment.

The report that was recently published makes several suggestions as to what is anticipated to be leading this growth. The consumables and reagents deliverable segment is expected to register the highest growth rate, owing to high costs and volume associated with reagents needed for sequencing. This field is filled by companies that service actual research companies, and oftentimes are the main operating costs of lab testing.

The computational services deliverable segment is also set to expand at a considerable CAGR from 20202027 owing to the increasing demand for computational sequence alignment and analysis among molecular biologists. Interpreting sequencing data is a somewhat complicated process, and software and people capable of interpreting the results are at an ever-increasing demand in this space.

In terms of investment into future research and development for predictive biomarkers targeted toward diagnosis and patient monitoring, substantial investments by biotechnology and pharmaceutical companies have contributed significantly to the revenue generated by the biomarker discovery application segment. Clinical trials using genomics sequencing have oftentimes been wildly successful, driving more and more disease-based research to consider its use for new treatment strategies, as well as a search for biomarkers at a breakneck speed.

The success of use of genomic sequencing is a worldwide affair, and the Asian Pacific region is a potentially lucrative market for genomics, and is anticipated to expand at the highest CAGR of 9.1%. Regionally, genomics is being used everywhere, particularly in North America and Europe, but also in Asia, South America, the Middle East, and Africa.

Key companies in the genomics market tend to be located in the United States or Europe, and the largest players include 23andMe; F. Hoffmann-La Roche Ltd.; BGI; Myriad Genetics Inc.; Danaher.; Pacific Biosciences; Illumina; Agilent Technologies; Thermo Fisher Scientific, Inc.; Foundation Medicine; Oxford Nanopore Technologies; and Bio-Rad Laboratories.

Of these companies, an increasing pool of market innovators mostly from 23andMe, Oxford Nanopore Technologies, and Veritas Genetics (each having launched breakthrough genomic technologies in recent years) are also contributing toward market development. 23andMe in particular has expertise in developing direct-to-consumer genomic tests targeted toward disease prognosis and has received FDA approval for its commercialization.

MinION, a sequencing device from Oxford Nanopore Technologies, is witnessing significant traction owing to its ability to sequence any fragment length of DNA in real time. In the same field, Veritas Genetics is offering an affordable solution for a complete readout of a genomic sequence. A few years ago, it was only possible to procure this information if ordered by a doctor, but now these tests can be taken by anyone curious about their DNA and costs approximately USD 1,000. Veritas Genetics has also begun the commercialization of this technique for newborns genomic sequencing applications in China.

Genomic sequencing and biomarker identification is hardly the only source of income in the field of genomics. Other deliverables besides products and services include functional genomics in basic laboratory research and aspects of costs associated; the study of epigenetics and computer data analysis associated with large data sets; and genomics end-use, in clinical and research laboratories, academic and government institutes, hospitals and clinics, and of course pharmaceutical and biotechnology companies.

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Genomics Research Market Worth to Exceed $31 Billion by 2027 - Clinical OMICs News

Collaboration to focus on improving outcomes, increasing patient satisfaction and reducing costs

CHICAGO, March 5, 2020 /PRNewswire/ -- ImmersiveTouch has announced a collaboration with HP that strives to unleash the power of personalized medicine by providing the missing link between medical imaging and real-time surgery. This collaboration will pair ImmersiveTouch clinical software with HP hardware to create better healthcare outcomes at reduced costs. The companies will jointly showcase their technologies at the annual HIMSS conference in Booth 1541 from March 10th-12th.

ImmersiveTouch is revolutionizing personalized care by designing technology that more accurately simulates each patient's specific anatomy in 360 VR. Surgeons can feed traditional CT and MRI scans into ImmersiveTouch software, strap on virtual reality headsets, and then virtually fly through simulations of muscles, bones and blood vessels, exploring the specific dimensions of the disease they must attack from every angle. ImmersiveTouch continually strives towards increased patient satisfaction and improved surgical planning, and away from longer procedure times, sub-optimal patient outcomes and readmissions.

From radiology to surgery, the companies plan to combine their clinical software and hardware expertise to market products and solutions that can be customized to the needs of an individual patient. In the near-term, the collaboration will focus on promoting ImmersiveTouch software powered by HP's Reverb Pro VR headsets and connected to HP Jet Fusion 3D printers.

"ImmersiveTouch and HP together will shift the paradigm for high quality virtual reality experiences in healthcare," said Jay Banerjee, COO of ImmersiveTouch. "We are immersing surgeons to train and rehearse for mission-critical situations. The industry is poised to enter a new era of personalized care."

ImmersiveTouch has been installed in over 100 hospitals globally and is proud to facilitate personalized care through its technological innovation.

Recently at MetroHealth Hospital in Cleveland, a neurosurgeon was able to confirm his suspicion from the initial radiological report after reviewing the case with ImmersiveTouch. After the immersive planning session, the surgeon altered his surgical approach and was more accurately prepared.

In the spirit of the HIMSSmission to "realize the full health potential of every human, everywhere", ImmersiveTouch will invite one of its pioneer enterprise customers, Dr. Shafiq Rab, CIO of Rush Hospital, to speak on the HIMSS panel session titled "3D Print & VR: Improving Surgical Outcomes & Informed Consent".

About ImmersiveTouch Inc.

ImmersiveTouch strives to strengthen human life and unleash the power of personalized care by providing the missing link between medical imaging and real-time surgery. ImmersiveTouch is using the latest advancements in computer vision,artificial intelligenceand AR/VR to develop FDA cleared medical technology. The company provides a fullsoftware suite for surgical planning, surgery skills training, and informed patient consent. http://www.immersivetouch.com

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ImmersiveTouch Partners with HP on Virtual Reality and 3D Printing for Personalized Health Care Solutions - Yahoo Finance

Dublin, March 10, 2020 (GLOBE NEWSWIRE) -- The "Biomarkers Market Size, Share & Trends Analysis Report by Type (Safety, Efficacy, Validation), by Application (Diagnostic, Drug Development, Personalized Medicine), by Disease, and Segment Forecasts, 2020-2027" report has been added to ResearchAndMarkets.com's offering.

The global biomarkers market size is expected to reach over USD 129.4 billion by 2027. It is anticipated to exhibiting a CAGR of 13.7%, during the forecast period. Factors, such as increasing collaborations and funds for R&D activities, rising consumer awareness, a widening patient base, and technological advancements collectively augmenting market growth.

The drug discovery segment contributed the highest revenue in 2019. Pharmaceutical companies focus on extensive R&D initiatives for the development of targeted therapeutics. Coordinated strategic efforts on biomarker development remain a searing trend among drug manufacturers, academic research institutions, commercial R&D organizations, non-profitable health foundations, and federal government biomedical regulatory and research agencies.

North America continued to lead the biomarkers market in 2019, driven by an amplifying demand for personalized medicines, high disease prevalence, and proactive government initiatives. It is expected to maintain its lead over the forecast period. Asia Pacific is positioned to witness the fastest CAGR, over the forecast period, spearheaded by India.

Some key market players include Abbott, Roche, Qiagen, Siemens Healthcare, Thermo Fisher Scientific, Bio-Rad Laboratories, Johnson & Johnson Services, Agilent Technologies, and Epigenomics. The players are developing novel kits and therapies and drugs to target population in the areas with high unmet clinical needs.

Further key findings from the study suggest:

Key Topics Covered

Chapter 1 Methodology and Scope

Chapter 2. Executive Summary

Chapter 3. Biomarkers Market Variables, Trends & Scope3.1. Biomarkers Market Lineage Outlook3.1.1. Clinical Diagnostics Market Outlook3.2. Penetration & Growth Prospect Mapping3.3. Regulatory Framework3.3.1. Reimbursement Framework3.3.2. Standards & Compliances3.4. Market Dynamics3.4.1. Market Driver Analysis3.4.1.1. Increasing Prevalence of Chronic Diseases3.4.1.2. Technological Advancements3.4.1.3. Funding for Biomarkers3.4.2. Market Restraint Analysis3.4.2.1. Reimbursement Policies3.5. Biomarkers Market Analysis Tools3.5.1. Industry Analysis - Porter's3.5.2. PESTEL Analysis3.5.3. Major Deals & Strategic Alliances Analysis

Chapter 4. Biomarkers Market - Competitive Analysis4.1. Recent Developments & Impact Analysis, by Key Market Participants4.2. Company/Competition Categorization (Key Innovators, Market Leaders, Emerging Players)4.3. Vendor Landscape4.3.1. List of Key Distributors and Channel Partners4.3.2. Key Company Market Share Analysis, 20194.4. Public Companies4.4.1. Company Market Position Analysis (Revenue, Geographic Presence, Product Portfolio, Key Serviceable Industries, Key Alliances)4.4.2. Company Market Share4.4.3. Competitive Dashboard Analysis4.4.4. Market Differentiators4.4.5. Synergy Analysis: Major Deals & Strategic Alliances4.5. Private Companies4.5.1. List of Key Emerging Companies4.5.2. Regional Network Map4.5.3. Company Market Position Analysis (Geographic Presence, Product Portfolio, Key Alliance, Industry Experience)

Chapter 5. Biomarkers Market: Type Estimates & Trend Analysis5.1. Definitions & Scope5.2. Type Market Share Analysis, 2019 & 20275.3. Biomarkers Market, by Type, 2015 to 20275.4. Market Size & Forecasts and Trend Analyses, 2015 to 2027 for the following:5.4.1. Safety5.4.2. Efficacy5.4.3. Validation

Chapter 6. Biomarkers Market: Application Estimates & Trend Analysis6.1. Definitions & Scope6.2. Application Market Share Analysis, 2019 & 20276.3. Biomarkers Market, by Application, 2015 to 20276.4. Market Size & Forecasts and Trend Analyses, 2015 to 2027 for the following:6.4.1. Diagnostics6.4.2. Drug Development6.4.3. Personalized Medicine

Chapter 7. Biomarkers Market: Disease Estimates & Trend Analysis7.1. Definitions & Scope7.2. Disease Market Share Analysis, 2019 & 20277.3. Biomarkers Market, by Disease, 2015 to 20277.4. Market Size & Forecasts and Trend Analyses, 2015 to 2027 for the following:7.4.1. Cancer7.4.2. Cardiovascular Disease7.4.3. Neurological Disease7.4.4. Immunological Disease7.4.5. Others7.5. Disease Market, by Type, 2015-2027:7.5.1. Cancer7.5.2. Cardiovascular Diseases7.5.3. Neurological Disease7.5.4. Imunological Disease7.5.5. Others

Chapter 8 Biomarkers Market: Regional Estimates & Trend Analysis8.1 Biomarkers Market: Regional Movement Analysis, 2019 & 20278.2 Biomarkers Market: Leading Players, 20198.3 SWOT Analysis, by Factor (Political & Legal, Economic and Technological)8.4 North America8.5 Europe8.6 Asia-Pacific8.7 Latin America8.8 MEA

Chapter 9 Competitive Landscape9.1 Strategy Framework9.2 Heat Map Analysis of Private Companies9.3 F-Hoffman La Roche Ltd.9.4 Abbott9.5 Epigenomics AG9.6 General Electric Company9.7 Johnson & Johnson9.8 Thermo Fisher Scientific Inc.9.9 Bio-Rad Laboratories Inc.9.10 Siemens Healthcare Private Limited9.11 Qiagen

For more information about this report visit https://www.researchandmarkets.com/r/1r1wle

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Global Biomarkers Market Outlook, 2020-2027 - Featuring Profiles of Key Players Abbott, Roche, Qiagen, Siemens Healthcare, Thermo Fisher Scientific,...

All the news you need to know this Wednesday morning.

A man who led police on a car chase said he told his chauffeur to keep driving because he was having sex in the backseat with a woman who was not his wife.

Maurice Sines, from Britain, was in his 405,000 (about $800,000) Rolls Royce Phantom with "a bird in the back" when police approached the vehicle, a UK court has heard.

He argued that he didn't want to get caught because he'd just rekindled his relationship with his wife.

But CCTV proved Sines' recollection of the incident was completely false. Video footage showed him getting into the car and he confessed to driving while disqualified.

Judge Robert Fraser told Guildford Crown Court he had given "what was clearly and utterly a false account", The Mirror reports.

The chase started after a golf tournament in Surrey in May 2018.

The 57-year-old has been slapped with an eight-month sentence -- suspended for two years, as well as a two-year driving ban and a three-month tagged curfew.

He was also ordered to pay a 5,000 penalty and 4,200 in court costs.

The Climate Council's Summer of Crisis report says climate change fanned the unprecedented impacts of Australia's recent bushfire crisis.

Former Fire and Rescue NSW Commissioner Greg Mullins said the bushfires produced more greenhouse gases than Australia typically emits in a year.

"The data contained in this new report confirms what we all suspected," he said in a statement.

"The bushfire season was the worst on record for NSW in terms of the scale of the bushfires, the number of properties lost and the amount of area burned. Climate change fuelled the unprecedented fires."

Politics

Now That The Bushfires Are Out, It's Time To Discuss What Caused Them

For the first time in eight months, all the NSW fires are out. Now, a ground-breaking report has ruled climate change was a massive factor in the extreme fire conditions that devastated Australia this summer.

More than 2400 NSW homes were destroyed over the summer, almost ten times more than the previous worst season for bushfire property damage which was in 2013.

About 5.4 million hectares of land were also scorched, which is equivalent to more than six per cent of NSW's total land area.

The report also found the bushfires have taken a huge economic toll on Australia, with the tourism sector predicted to have lost more than $4 billion.

Doctors in Britain claim a man from London is the second person to be cured of HIV, ever.

BBC News reports Adam Castillejo has been free of the virus for more than 30 months after stopping anti-retroviral therapy.

According to the Lancet HIV journal, he was not cured by HIV drugs but instead by a stem-cell treatment he received for an unrelated cancer diagnosis.

It is understood donors of those particular stem cells have a very uncommon gene that gives them protection against HIV -- that protection has now been passed on toCastillejo, 40.

Timothy Brown became the first person to be reportedly cured of HIV in 2011, three and a half years after having similar treatment.

Stem-cell transplants are believed to stop the virus from replicating inside the body by replacing the patient's own immune cells with donor ones.

Hobart could become the first Australian city to ban single-use plastic packaging on takeaway food.

According to The Mercury, new laws to ban this type of packaging will be enforced by the City of Hobart from next year.

The move comes after the city banned petroleum-based plastic containers and utensils as part of the City of Hobart's zero-waste strategy last year.

The new law will apply to plastic cups, lids, utensils, straws and condiment sachets with the council expecting the introduction to result in a600-tonne annual reduction in single-use plastics to landfill.

City of Hobart council is pleading for the State Government to take the initiative statewide.

Dutch prosecutors have made explosive claims that Russian spies interfered in the MH17 investigation and were behind a disinformation campaign.

Defendant Oleg Pulatov has applied to take away the legal anonymity of several threatened witnesses, who still fear for their lives both in Ukraine and abroad.

Prosecutors said those fears are legitimate as separatists have put areas of Ukraine "under a rule of violence", while Russian spies have recently been accused of murders in the UK, Germany, Turkey, and Bulgaria.

World

Judge Says Downing Of MH17 'Almost Incomprehensible' As Murder Trial Begins

A Dutch judge described as almost incomprehensible the 2014 shooting down of a Malaysian airliner that killed all 298 passengers and crew on board, as the trial of three fugitive Russians and a Ukrainian began on Monday.

They added Australian Federal Police case files were leaked on a Russian-linked website as part of the disinformation campaign. Only parts of the police report were released selectively to spread disinformation.

Australian Jon O'Brien, whose son died in the attack, said: "It's a bit embarrassing on one level if it wasn't so offensive and had such malicious intent."

"That (the disinformation campaign) is not helpful for the next of kin, I don't think it assists their grieving and ability to follow the trial and know what the facts are,"Australian police officer David Nelson added.

Kale chips might look like a healthy snack but experts warn vegetable crisps are packed with salt and Australians should watch out.

Heart Foundation dietitian Sian Armstrong said while they might look healthy, they contain "alarming" amounts of salt.

"They might be found in the health aisle or say 'organic' or something but this doesn't always mean they're actually a healthy option," she told AAP.

A George Institute survey released on Wednesday revealed some veggie chips -- like kale or legume-based crisps -- had 26 times more salt than less-salty veggie chips.

Armstrong said the rule of thumb is 120 milligrams of sodium per 100 grams are the best products and under 400 milligrams is okay but anything above is unhealthy.

"Most Australians are consuming double the amount of salt than they should be," she said. "A lot of the time, you can't even taste it. Things don't even taste that salty at all."

David Warner told teammates he'd reflected on how to be a better member of the squad in his first meeting with Australian players after the ball-tampering ban last year.

Warner and Steve Smith's comebacks are a key subject of an eight-part documentary labelled The Test, will be released on Amazon on Thursday.

The pair's first meeting back with the team -- in Dubai last March -- is shown in detail, which proved a key component for their returns in both the World Cup and Ashes.

In the meeting, Smith confessed to teammates he at times felt like walking away from the game during his year-long suspension.

Warner also said he'd completed plenty of self-reflection in his time away, but believed he was returning to a different team than the one he left in South Africa a year earlier.

"In the last 12 months I have had a lot of reflecting to do," Warner said in the Dubai meeting.

"With cricket and what happened in the past and getting better as a team person as well.

"From looking the outside in, you can see the whole team... we have grown a lot."

And you're all caught up on 10 daily.

With AAP.

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Brekky Wrap: Businessman Failed To Pull Over In Police Chase Because He Was 'Having Sex In The Back Seat' - 10 daily

Henry Ford Health System plans to rapidly expand its life-extending precision medicine program in Detroit after the Jeffries family pledged $25 million to create a specialized center.

The $25 million donation, provided by developer Chris Jeffries and his wife, Lisa, is the largest single gift from individuals in Henry Ford's 105-year history and one of the largest in the nation for a precision medicine program, Henry Ford officials said.

"We are incredibly grateful to Lisa and Chris Jeffries for their generosity," Wright Lassiter III, president and CEO of Henry Ford Health System, said in a statement. "We are experiencing a momentous era in medicine, a radical shift from the traditional approach to cancer care. This gift will help us consolidate and advance our collective efforts to create unprecedented access to advanced, highly personalized treatments for our patients and members."

But in the past three months, precision medicine or precision health, as neurosurgeon Steven Kalkanis, M.D., CEO of the Henry Ford Medical Group, likes to call it is now available for a whole host of new treatments besides those for cancer.

"Hot off the press. There have been animal studies and now clinical studies, only in the last several months, where precision health is ready for prime time and for human beings," said Kalkanis, who also is Henry Ford's chief academic officer.

Over the past decade, precision medicine has been evolving as a new type of medical care that initially focused on treating patients with various forms of cancer, including brain, lung, colon and pancreatic. It works like this: By analyzing patients' own molecular profile and the genetic mutations of their tumors, doctors are able to use the information to develop personalized treatments that could be more effective than standard care.

Doctors are now using precision medicine approaches to treat many other conditions, including cystic fibrosis, asthma, depression, heart disease, autoimmune diseases and multiple sclerosis, Kalkanis said.

"We have a whole era opening up to treat a host of other chronic diseases, using precision medicine to identify patients' molecular profiles, but potentially using existing drugs for everything from asthma to high blood pressure to depression," Kalkanis said. "However, the majority (of precision medicine) is still about designing a tailored drug regimen for individual patients."

Kalkanis said patients with some chronic conditions will one day soon be able to take a blood test and have their molecular profile entered into a database of existing drugs that may be able to match to an existing drug or to new ones being created in real time.

"We have found, in one of our clinical trials, that a (patient had a) rare type of brain cancer with a mutation impacting glucose levels. We used an existing diabetes drug and the patient went into remission," Kalkanis said.

Why the Jeffries donated

Chris Jeffries' father, Gerald was diagnosed with a highly malignant brain tumor in 2001.

Treated initially by neuro-oncologist Tom Mikkelsen and later Kalkanis and the Hermelin Brain Tumor Center team, Gerald was given only nine to 11 months to live, but using a precision medicine approach, he lived another five years until he died in December 2006.

"That meant so much to us. It's impossible to describe," Chris Jeffries said in a statement. Lisa Jeffries also lost her stepfather to cancer.

A native of Flint, Chris Jeffries is co-founder of Millennium Partners, a real estate development company that specializes in mixed-use, urban living and entertainment centers in Boston; San Francisco; Miami; Washington D.C.; Los Angeles; and New York.

Last year, the Jeffries donated $33 million to the University of Michigan Law School, where Chris was a 1974 graduate. The donation is earmarked for student support, including scholarships and other forms of financial aid, summer funding programs, and debt management. It was the largest private donation to the law school in its history, UM said.

Kalkanis said Gerald Jeffries was one of the first cohorts of patients in Henry Ford's personalized medicine program long before it was called precision medicine, in the early 2000s.

"He was enrolled in a clinical trial at Henry Ford 10 to 15 years ago and treated with a novel drug based on his unique cancer characteristics," Kalkanis said. "Because of that, he lived way beyond his life expectancy. The family was very supportive of our program and especially wanted to provide this same hope to others once they learned of the enhanced capability of precision medicine."

Since Gerald Jeffries was treated and Henry Ford developed its precision medicine approach, Kalkanis said there have been a number of patients who have outlived their prognoses. He said doctors can now give patients and families more hope than ever.

"We went through the precision medicine protocol, based on his own unique biomarkers and using a novel drug," he said. "Today these tests have become much more accessible. (For instance), a decade ago, it cost $5,000 (for testing). Now it costs several hundred for the tests" that can lead to the novel, personalized treatment.

Henry Ford's precision medicine program

For years, Henry Ford has been at the forefront of the precision medicine revolution, making world-class, targeted cancer treatments available at its national destination referral center, the Henry Ford Cancer Institute, officials said.

"By analyzing genetic and non-genetic factors, we can gain a better understanding of how a disease forms, progresses and can be treated in a specific patient," Mikkelsen, who is Henry Ford's medical director of the Precision Medicine Program and Clinical Trials Office, said in a statement.

"As of now, we can check for more than 500 genomic markers, which helps us understand the pattern of changes in a patient's tumor cells that influence how cancer grows and spreads," Mikkelsen said. "I'm confident this gift will lead to advancements that provide hope for patients with even the most complex diagnoses."

Kalkanis said the $25 million donation, which is expected to be received over the next several years, will enable Henry Ford to do a number of things.

"It takes investment to build out our biodepository with tissue samples, test them, look for biomarkers and see if (patients are) eligible for certain drugs," Kalkanis said. "We need to design our lab platform that is FDA-approved and recruit the best and brightest scientists and clinicians (specializing in) other cancer types."

Based on the current projection of about four to five chronic diseases and about 10 subspecialties that can be addressed by precision medicine, Kalkanis estimated Henry Ford will recruit two to three scientists and clinicians each year for the next few years.

"We are launching the search process for key researchers and working with the lab and pathology group for tests this calendar year," he said. "We should be up and running over the next year."

Adnan Munkarah, M.D., Henry Ford's executive vice president and chief clinical officer, said taking research in the lab and translating it to patient care is a standard process at Henry Ford.

"(It) is a critical element to help us treat many of the most challenging conditions our patients face," Munkarah said in a statement. "Translational research is bench-to-bedside, meaning it allows patients to benefit from discoveries in real time. That is an essential part of our history and commitment to medicine and academics not only offering the latest innovations in medicine, but also playing a leading role in their development."

Precision medicine is an approach to patient care that allows doctors to select treatments most likely to help patients based on a genetic understanding of their disease.

"The support of our donors is the fuel behind our clinical innovations and the breakthroughs that are improving people's lives," Mary Jane Vogt, Henry Ford's senior vice president and chief development officer, said in a statement. "It is remarkable to work with donors who believe in a better tomorrow and the power of a unified approach to medicine."

The Jeffrieses said they believe Henry Ford will achieve transformational advancements in cancer treatment using precision medicine and personalized treatments.

"The team at Henry Ford is second to none," said Chris Jeffries. "We believe this gift will lead to other families having more time together, as I had with my father. Defeating cancer requires a concerted effort from everyone and we hope to make as big an impact on that goal as possible."

Read more:
Henry Ford to expand precision medicine program with help of $25 million donation - ModernHealthcare.com

Updated: May 25, 2018:

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Excerpt from:
Collaborative Review of Scientific Evidence Announced By FDA - JD Supra

CHAPEL HILL Scientists at the UNC School of Medicine and colleagues created a new computational tool called H-MAGMA to study the genetic underpinnings of nine brain disorders, including the identification of new genes associated with each disorder.

The research,published inNature Neuroscience, revealed that genes associated with psychiatric disorders are typically expressed early in life, highlighting the likelihood of this early period of life as critical in the development of psychiatric illnesses. The researchers also discovered that neurodegenerative disorder-associated genes are expressed later in life. Lastly, the scientists linked these disorder-associated genes to specific brain cell types.

By using H-MAGMA, we were able to link non-coding variants to their target genes, a challenge that had previously limited scientists ability to derive biologically meaningful hypotheses from genome-wide association studies of brain disorders, said study senior authorHyejung Won, PhD, assistant professor of genetics at the UNC School of Medicine and member of the UNC Neuroscience Center. Additionally, we uncovered important biology underlying the genetics of brain disorders, and we think these molecular mechanisms could serve as potential targets for treatment.

Hyejung Won, PhD UNC photo)

Brain disorders such as schizophrenia and Alzheimers disease are among the most burdensome disorders worldwide. But there are few treatment options, largely due to our limited understanding of their genetics and neurobiological mechanisms. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture related to many health conditions, including brain-related disorders. GWAS is a technique that allows researchers to compare genetic sequences of individuals with a particular trait such as a disorder to control subjects. Researchers do this by analyzing the genetic sequences of thousands of people.

To date, we know of hundreds of genomic regions associated with a persons risk of developing a disorder, Won said. However, understanding how those genetic variants impact health remained a challenge because the majority of the variants are located in regions of the genome that do not make proteins. They are called non-coding genetic variants. Thus, their specific roles have not been clearly defined.

Prior research suggested that while non-coding variants might not directly encode proteins, they can interact with and regulate gene expression. That is, these variants help regulate how genes create proteins, even though these variants do not directly lead to or code for the creation of proteins.

Given the importance of non-coding variants, and that they make up a large proportion of GWAS findings, we sought to link them to the genes they interact with, using a map of chromatin interaction in the human brain, Won said. Chromatin is the tightly packed structure of DNA and proteins inside cells, folded in the nucleus in a way to maintain normal human health.

Won and colleagues used this map to identify genes and biological principles underlying nine different brain disorders, including psychiatric conditions such as schizophrenia, autism, depression, and bipolar disorder; and neurodegenerative disorders such as Alzheimers, Parkinsons, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Using the computational tool H-MAGMA, Won and colleagues could link non-coding variants to their interacting genes the genes already implicated in previous GWAS findings.

Another important question in brain disorders is to identify cellular etiology the cells involved in the root cause of disease. This is especially critical as the brain is a complex organ with many different cell types that may act differently in response to treatment. In the attempt of finding critical cell types for each brain disorder, the researchers found that genes associated with psychiatric disorders are highly expressed in glutamatergic neurons, whereas genes associated with neurodegenerative disorders are highly expressed in glia, further demonstrating how the two disorder clusters diverge from each other.

Moreover, we classified biological processes central to the disorders, Won said. From this analysis, we found that the generation of new brain cells, transcriptional regulation, and immune response as being essential to many brain disorders.

Won and colleagues also generated a list of shared genes across psychiatric disorders to describe common biological principles that link psychiatric disorders.

Amongst the shared genes, we once again identified the brains early developmental process as being critical and upper layer neurons as being the fundamental cell-types involved, Won said We unveiled the molecular mechanism that underscores how one gene can affect two or more psychiatric diseases.

H-MAGMA is publicly available so that the tool can be widely applicable and available to the genetics and neuroscience community to help expand research, with the ultimate goal of helping people who suffer with brain-related conditions.

The National Institute of Mental Health, the Brain and Behavior Research Foundation, and the Simons Foundation Autism Research Initiative funded this research.

Other authors were Nancy Sey, Benxia Hu, Won Mah, Harper Fauni, Jessica McAfee, all from UNC-Chapel Hill, and Prashanth Rajarajan, Kristen Brennand, and Schahram Akbarian from Mount Sinai Health System.

(C) UNC-Chapel Hill

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New UNC computational tool boosts understanding of genetic disorders affecting the brain - WRAL Tech Wire

SAN FRANCISCO, March 10, 2020 /PRNewswire/ --Invitae Corporation(NYSE: NVTA), a leading medical genetics company, today announced it has entered into definitive agreements to acquire YouScript, a privately held clinical decision support and analytics platform, and Genelex, a privately held pharmacogenetic testing company, to bring best-in-class pharmacogenetic testing, and robust, integrated clinical decision support to Invitae. Pharmacogenetic testing evaluates genetic variations that can impact how an individual responds to prescription medication.

"Adding pharmacogenetics to Invitae's services enables us to offer greater value to our existing customers and helps us expand into new customer types and clinical areas," said Sean George, co-founder and chief executive officer of Invitae. "Despite its broad utility, the incorporation of pharmacogenetic information into routine medical care has been slow. We believe that Invitae's business model and technological capabilities, combined with an offering designed for ease of use in supporting clinical care, can accelerate the use of pharmacogenetic information. This is an exciting next step in our mission to bring comprehensive genetic information into mainstream medical care."

Pharmacogenetic variants with medical implications are very common. For example, a cross-sectional study of more than 7.7 million U.S. veterans published in 2019 found that 99% of individuals in the Veteran Health Administration system carry at least one actionable pharmacogenetic variant. Furthermore, over half of the individuals had been prescribed a drug for which deciding to use the drug or determining the proper dosage would be affected by relevant pharmacogenetic information.1 Routine pharmacogenetic testing can provide clinicians with information to improve treatment and reduce the possibility of adverse events, particularly for patients with complex medication regimens or co-existing conditions.

"Pharmacogenetic information becomes clinically actionable when the complex web of multifactor interactions, including drug-drug and drug-gene, is used to characterize risk and benefit," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Simply detecting pharmacogenetic variation is not nearly enough to make the information clinically useful. Combining Genelex testing with clinical decision support in the EMR using YouScript software enables clinicians to easily navigate this information when making prescription choices at the point of care."

YouScript offers an innovative clinical decision support tool for healthcare providers that can assist in patient medication management at the point of care. The software pairs a patient's pharmacogenetic profile with published drug and gene interaction information to assess the risk for adverse drug events and possible side effects. Clinicians receive information, alerts, and possible medication alternatives in real-time through a clear and concise interactive interface to help optimize medication choice to improve patient care. YouScript is integrated with major electronic medical record (EMR) systems, including Epic, Cerner, and Allscripts.

In addition to providing clinical support at the patient level, health systems can use YouScript at population scale to identify patient populations at highest risk for adverse events. The software identifies those patients who are most likely to benefit from pharmacogenetic testing based on their drug regimen. The utilization of YouScript's software, in combination with Genelex pharmacogenetic testing, has been shown to reduce adverse events, costs and hospital readmissions in peer-reviewed published studies.

"Our clinical decision support tool is focused on giving clinicians the most comprehensive, evidence-based information in an actionable, easy-to-use format. This enables the safest, most informed decision for their patient in real time, within the workflow," said Kristine Ashcraft, chief executive officer of YouScript. "Joining forces with Genelex and Invitae will allow us to help a larger number of clinicians use genetics not just for the few but as a routine practice for all their patients."

Genelex offers pharmacogenetic testing that analyzes the genes that are important for understanding variation in how people metabolize and respond differently to prescription medications. The testing process includes pharmacist review, patient- and clinician-facing reports, as well as access to clinical decision support for the treating provider.

"Accelerating the use of genetic information to inform treatment choices is essential for realizing the power of genetics in mainstream medicine," said Chris Howlett, chief executive officer of Genelex."The combination of Genelex's expertise in pharmacogenetics, YouScript's advanced clinical decision support and Invitae's expertise in delivering genetic information that is affordable and accessible at scale enables us to help more clinicians and their patients benefit from genetics-informed treatment choice."

Under the definitive agreements, Invitae will acquire YouScript for approximately $79.3 million, subject to certain adjustments, consisting of $25 million in cash and the remaining in Invitae common stock (based upon a trailing average trading price as of the agreement date), and Invitae will acquire Genelex for approximately $20.7 million in upfront shares of Invitae common stock (based upon a trailing average trading price as of the agreement date) plus additional shares of Invitae common stock in the event that certain milestones are achieved. The acquisitions are expected to close in the coming weeks, pending customary closing conditions. The acquisitions are not expected to materially change previously shared guidance on revenue and volume for 2020.

Conference Call and Webcast Details

Management will host a conference call and webcast today at 2:00 p.m. Pacific / 5:00 p.m. Eastern to discuss the acquisitions. The dial-in numbers for the conference call are (866) 393-4306 for domestic callers and (734) 385-2616 for international callers, and the reservation number for both is 4663118. Following prepared remarks, management will respond to questions from investors and analysts, subject to time limitations.

The live webcast of the call and slide deck may be accessed by visiting the investors section of the company's website atir.invitae.com. A replay of the webcast and conference call will be available shortly after the conclusion of the call and will be archived on the company's website.

About InvitaeInvitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

About YouScriptYouScript enables faster, more proactive personalized medication management to reduce avoidable adverse drug events. YouScript is a trusted partner to value-based healthcare organizations, providers, and payers who want to bend the healthcare cost curve with the power of precision medicine. Partners include Clover Health, Group Health of South-Central Wisconsin, Highmark BCBS, and TELUS Health. YouScript's technology synthesizes the evidence impacting drug response, including pharmacogenetic testing, to support doctors and pharmacists at the point of care. YouScript is the only clinically validated system that shows improved outcomes, reduced costs and high patient and provider satisfaction. YouScript is successfully integrated into the clinical workflow of Epic, Cerner, Allscripts, GraneRx and other leading healthcare technology providers. For more information about YouScript, please visit:www.youscript.com.

YouScript has not been reviewed or approved by the United States Food and Drug Administration and cannot be used to diagnose or treat any disease or other health condition.

About GenelexGenelex is one of the longest-standing laboratories in the United States, specializing in pharmacogenetics testing and was one of the first clinical laboratories to provide pharmacogenetic testing and interpretation as the creator of the patented, proprietary and powerful YouScript Personalized Prescribing System. Genelex pharmacogenetic tests reveal natural variations that determine how the body processes commonly prescribed medications.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the potential benefits of the proposed acquisitions; the expected timing of the closing of the proposed acquisitions; the capabilities and benefits of YouScript and/or Genelex technology; the company's ability to integrate and expand the use of YouScript and/or Genelex technology and the impact thereof; and the company's business strategy, and its beliefs regarding the ways in which the proposed acquisitions will contribute to that strategy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the parties' ability to satisfy the conditions precedent to the consummation of the proposed transactions, including the parties' ability to close the proposed acquisitions; the occurrence of any event that could give rise to the termination of one or both acquisition agreements; unanticipated difficulties or expenditures relating to the proposed transactions; the risk that expected benefits of the proposed transactions may not be achieved in a timely manner, or at all; the risk that the YouScript and/or Genelex technology may not be efficiently or successfully integrated into, or otherwise scale with, the company's platform; the company's history of losses; the company's ability to compete; the company's ability to manage growth effectively; the company's ability to use rapidly changing genetic data and technology to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31 , 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Source: Invitae Corporation

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://invitae.com

Continued here:
Invitae to Acquire YouScript and Genelex to Make it Easier to Use Pharmacogenetic Information at the Point of Care - PRNewswire

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When it comes to applying genomic sequencing in diagnostic medicine, increasing evidence is demonstrating that whole exome sequencing (WES) can sometimes fall short. This is a particular issue when analyzing large segments of DNA from patients and can adversely impact a physician's diagnosis.An alternative to WES is the utilization of a smaller, more targeted genetic test that analyzes a specific panel of genes known to be associated with a certain pathology. These tests are less of a financial burden on healthcare systems and patients and can offer highly accurate results. Targeted NGS is enabling this testing approach, and we're seeing increased adoption of NGS in the clinical diagnostics space.

But what barriers still exist to the full implementation of NGS, and how can we remove them? Technology Networks recently spoke with Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, to learn more.Molly Campbell (MC): How is genome sequencing currently utilized in the oncology diagnostics space? What are its limitations?Luca Quagliata (LQ): Sequencing of DNA and RNA is currently used in routine molecular testing for two purposes. Firstly, they are used with the aim of supporting a diagnostic decision, i.e. differential diagnosis (such as PIDGFA mutation status in gastrointestinal stromal cancer. More commonly, they are adopted to complement a pathology report by adding information related to a clinically relevant genomic variant (e.g. mutations in the EGFR gene) that are directly associated with any specific approved drug treatment (for example, BRAF inhibitors for V600E BRAF mutated melanoma patients).Some of the major limitations of genomic testing are related to quality of the starting material for testing (generally known as pre-analytic issues, e.g. tissue fixation), the ability of a given sequencing method to generate usable results (not every sequencing approach is born equal), the capability of interpreting the results (e.g. is the observed genomic variant a pathogenic alteration or is simply benign?) and finally the economic aspect. Who should pay for the test?MC: Why does WES commonly fail to adequately analyze large segments of DNA?LQ: As above mentioned, not all sequencing methods are born equal, WES can be performed using a variety of library preparation kits, possibly leading to substantially different results.1 Unfortunately, no universally accepted standard has been established for WES, especially for oncology applications.Generally, one of the most common issue is related to the sequencing depth, also known as coverage. High coverage allows to gain higher confidence in the generated results, as the genomic examined regions are analyzed multiple times, thus increasing the robustness of the data. However, high coverage comes at the cost of increasing sequencing price. Plus, even in the absence of any financial constraints, increasing coverage indefinitely is simply not possible due to technical limitations, i.e. the input material will define the maximal reachable coverage.

Furthermore, it is well established that, in certain situations, even pushing the coverage a 100-fold higher does not generate any tangible benefit in terms of data analysis output. Finally, a variety of alignment and calling algorithms can be deployed to identify large DNA segments rearrangements. Once again, no standard is strictly defined, thus the varying ability of different algorithms will greatly impact the final result. To conclude, while robust approaches are in place for single nucleotide variants (SNV) or multiple nucleotide variants (MNP), as well as insertions and deletions (INDEL), this is not the case when applying WES to study large DNA segments. Nowadays, microarray-based investigations are very popular for assessment of large genomic rearrangements.MC: Why is a targeted test more suitable in the diagnostics space?LQ: Targeted NGS is most commonly used for routine diagnostics because:

MC: NGS is becoming increasingly easier for patients to access and costs are rapidly declining. In your opinion, will we reach a stage where a genetic test is as common as, say, having a blood test when you visit your healthcare provider?LQ: While the price of NGS, meaning reagents related costs to perform the test, is undoubtedly going down, one should not forget that the largest fraction of NGS cost is generated by the human labor necessary to carry out the analysis. Thus, any technological approach that will reduce human intervention in the process will be the most effective in compressing the overall sequencing cost to enable true democratization of NGS.At Thermo Fisher Scientific, we recently made a significant step in this direction with the launch of the Ion Torrent Genexus System, the first research NGS solution that automates the entire specimen to report workflow in a single day with only two touch points.Having said that, there is no doubt that sequencing will eventually become as common as performing a classical blood check. The question is, rather, when will it happen?

In my opinion, that will largely depend not exclusively on the reduction of the overall NGS cost, but rather our ability to expand our understanding of the genomic variants clinical implications. As for now, only a limited fraction of variants can be clearly classified and associated with either a clinical condition or a drug treatment benefit. In my view, it is rather a matter of knowledge than merely a problem of costs. We use blood testing not only because it is easy and cheap, but because we can generate valuable and meaningful information through it.MC: The number of individuals undergoing direct-to-consumer genetic testing at home is on the rise. In your opinion, what impact is this having on the use of genetic testing in the clinical spaceLQ: Direct-to-consumer (DTC) genetic testing is an interesting recent phenomenon that in my view poses several questions, mainly regarding the quality of the results it provides. Several regulatory agencies have expressed concerns and are now acting with the aim of monitoring this market. In this initial and still immature phase of DTC, I strongly advocate for the implementation of a regulatory framework that should be considered not a barrier to wide genomic testing access but rather a safeguard.Should that framework be implemented, then DTC market expansion will have a positive effect on the use of genetic testing in the clinical space, as an audience of genetic-educated patients will also inevitably push physicians toward the adoption of genomics in medicine.

Should the DTC genetic market be given complete freedom, I am concerned that it would negatively impact genetic testing in the clinical space, as people might be easily convinced that managing this kind of data is simplistic, and thus the value of a controlled and professionally regulated testing approach will lose value. I think of this in relation to the "Dr Google self-medication" phenomenon.MC: What challenges still exist in the use of NGS in diagnostics?LQ: Overall NGS data generation and interpretation is still perceived as being extremely complex. Furthermore, while we are witnessing an increase in policy coverage for NGS testing, reimbursement remains a practical issue as well as NGS results being restricted to very specific indications. Finally, limited medical education and awareness regarding the value of genetic testing remains high in the healthcare community, with a substantial knowledge gap between physicians working at large academic centres and those working in the community setting. It will take a shared collective effort to remove the above-mentioned barriers to allow broad adoption of NGS in routine diagnostics. No single company, as large as it could be, can achieve such results.

We at Thermo Fisher Scientific are on the front-line supporting precision medicine through partnering with a variety of major stakeholders in the field, from patient advocacy groups to medical associations and Pharma.

Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, was speaking to Molly Campbell, Science Writer, Technology Networks.References:

1. Clinical Exome Studies Have Inconsistent Coverage, Clinical Chemistry, Volume 66, Issue 1, January 2020, Pages 199206.

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Removing the Barriers to Broad Adoption of NGS in Diagnostics - Technology Networks

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

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Rapid genetic testing becomes available to Calgary medical community - CTV News

Jennifer Cook has dealt with migraine headaches and nosebleeds since she was in junior high school, but it wasnt until much later in life, after two small strokes in her 40s, that she discovered these seemingly disconnected ailments including strange, little red dots on her hands and face were all symptoms of a genetic disorder running rampant through three generations of her family.

We all started to connect the dots, said Cook, 48, of Sacramento, referring to about a decade ago, when her father was the first in the family diagnosed with hereditary hemorrhagic telangiectasia, or HHT, a little-known disorder causing malformed blood vessels that can affect the skin and other organs. Since then, her aunt, sister, two of her brothers and two of her daughters also have been diagnosed.

It was so shocking to find out, said her daughter Nina Murphy-Cook, 23, also of Sacramento, who was diagnosed four years ago. Bloody noses, headaches and strokes in really young people. Literally, we had no idea. We all got those little red spots on the skin. My mom just called them Irish moles and said it was just something our family gets.

Cook and her daughter, now patients at Stanford Health Cares recently designatedHHT Center of Excellence, are under the care of a multidisciplinary team of specialists that includes interventional radiologists, neurosurgeons, pulmonologists, otolaryngologists, hematologists, gastroenterologists and a genetic counselor. The team members diagnose, prevent and, if necessary, treat the disparate problems that can result from this often undiagnosed and misdiagnosed disease.

If people get diagnosed and treated, they can have a normal life expectancy with this disease, said Edda Spiekerkoetter, MD, associate professor of pulmonary and critical care medicine and director of the Stanford HHT center. Otherwise, theyre susceptible to chronic, dangerous illnesses without even knowing there are treatments that can prevent them from happening. Key to solving this problem is better educating the public, including doctors, on how to recognize the symptoms. Shes educating primary care physicians, otolaryngologists and dentists, in particular, to serve as frontline screeners: They can keep an eye out for the hallmark red dots, called teleangiectasia, in the oral cavity and on lips and ask about nosebleeds, which are extremely common in patients.

HHTcauses abnormal connections, called arteriovenous malformations, to develop between arteries and veins. They can cause all sorts of problems. These deformed vessels growmost commonly in the nose, lungs, brain, gut and liver andcan cause brain bleeds, nosebleeds, strokes, gastrointestinal bleeding and heart failure. Themalformationsgrow in place of smaller vessels called capillaries, which normally connect arteries and veins. Capillaries are responsible for oxygen uptake into the blood and filter small particles circulating in the blood. Bypassing the capillary bed, these larger, malformed vessels allow small blood clots, bacteria and air bubbles to circulate throughout the body unfiltered. This can lead to strokes or a reduction of oxygen in the blood, which can lead to shortness of breath and exhaustion.

To prevent complications from these deformed vessels in the lungs, you need an interventional radiologist to step in; to prevent brain bleeds, you need a neurosurgeon;abdominal bleeds and anemia can be controlled by a gastroenterologist and hematologist; andotolaryngologists can help prevent severe nosebleeds, Spiekerkoetter said. While HHT is rare affecting an estimated 1 in 5,000 people 90% of cases go undiagnosed, Spiekerkoetter said. Patients often dont get diagnosed until after a serious event, such as a stroke.

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Patients turn to Stanford's center of excellence for treatment of hereditary hemorrhagic telangiectasia - Stanford Medical Center Report