Category Archives: Gene Medicine

Joselin Linder and members of the DeMoe family of North Dakota both lost genetic lotteries: They carry harmful inherited mutations that will impair, and likely curtail, their lives.

But the respective protagonists of "The Family Gene" and "The Inheritance" are far more than victims. At some sacrifice to their time, comfort and even health, they have become contributors to cutting-edge genomic medicine a field whose inevitable advances will benefit future generations.

Linder's mutation is exceedingly rare. In fact, it exists only in her family. Its marker is a heart murmur, often barely detectable. Its pre-eminent symptom is leakage of lymphatic fluid into the lungs and other body cavities, resulting in swollen limbs, damaged organs, breathing problems and eventual starvation. The gene, located on an X chromosome, expresses less virulently in women because they carry a second, nonlethal X chromosome that may temper its effects.

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The DeMoes of North Dakota are plagued by early-onset Alzheimer's disease a rare variation of the growing health scourge. Alzheimer's affects as many as 36 million people worldwide and about 5.3 million in the United States, but early-onset Alzheimer's represents just 1 percent of cases. It arises from three genetic mutations and typically presents between ages 30 and 50.

In rural Colombia, one extended family wrestling with this highly heritable dementia calls it "the curse." But for Alzheimer's researchers, the malady represents a scientific windfall an opportunity to test preventive drugs on a population known to be headed for illness.

"The Family Gene" and "The Inheritance," while concerned with explicating the relevant science, also share an unusual emotional intimacy. That intimacy takes different forms. Linder's memoir is a personal tale of loss, illness, ethical dilemmas and emotional fallout. Some of the details are harrowing. But Linder tells her story in a smart, wry voice devoid of self-pity.

"The Inheritance" is more straightforward in style, but ultimately no less involving. A model of immersion journalism, it is especially notable for its specificity and author Niki Kapsambelis' empathy. The DeMoes laid bare their lives, and Kapsambelis repays their candor with a warts-and-all portrait softened by fondness and respect.

"The Family Gene" begins with Linder's discovery of the severity of her father's illness. Dr. William I. Linder was himself a physician. But he would spend years, baffled and increasingly terrified, in a struggle with a nameless disease that could be neither diagnosed nor successfully treated.

At one point, the widow of William Linder's uncle notes that her husband had suffered similar symptoms on his way to a horrific death. Joselin Linder's great-grandmother, Mae, though longer-lived, had also experienced the disease's characteristic swelling. The family history pointed to a genetic link.

Linder uses gentle humor to distance herself, and the reader, from the grim reality of her father's condition. "We were not a family who routinely dealt with catastrophe," she writes. "We lived in Ohio." Recounting a story of a neighbor's disaster, she writes: "It's where we excelled: watching lightning strike other people's houses."

Eventually, the family makes a fortunate connection with Dr. Christine "Kricket" Seidman, a Boston-area genetic researcher with a specialty in cardiology. She recommends screening every family member for the telltale heart murmur. Out of 41 of Mae's descendants, 13 apparently have the murmur, forecasting health troubles ahead. Linder is one of them.

During her father's illness, she tries to maintain "a semblance of normalcy," attending Tufts University, finding her first serious boyfriend. But she soon swerves off course, abandoning her studies, acting out with drugs and men. "The idea of tempering my emotions, seeking any kind of balance at all, just seemed incomprehensible," she writes.

Then her medical and insurance woes begin. Months after her father's death, Linder discovers that her platelets are "alarmingly low," a condition that Seidman diagnoses as anemia. Meanwhile, her family doctor apparently has reported her heart murmur to a medical database, saddling Linder with a pre-existing condition. For a decade, in those pre-Obamacare years, she is unable to buy health insurance a problem solved only by marriage to a man with employer-based insurance.

Meanwhile, more relatives are stricken, the men succumbing "faster and in more devastating ways" than the women. One day, Linder's ankles swell up. Later, she discovers that she has a blocked portal vein, another symptom. Procedures to clear it ultimately fail.

But there are breakthroughs to cheer: A postdoctoral fellow in the Seidman lab maps the variant gene. Technology can now detect it and keep it from being passed to the next generation. Seidman develops a hypothesis about the disease mechanism, which implicates an improperly functioning liver. There is as yet no cure nor even a name for the disease. But Linder, while postponing childbearing, resolves to enjoy her life as best she can.

Like "The Family Gene," "The Inheritance" is partly about the impact a genetic disease has on entire families even relatives who are not afflicted. At the center of Kapsambelis' narrative are two remarkably courageous women: Gail DeMoe and her daughter Karla.

Gail's husband, Galen "Moe" DeMoe, is "a hard drinker, a harder worker, and one of the best-liked men in the oil fields" of Tioga, N.D. Gail, with her "ribald sense of humor," is an even more popular figure. The couple has six children and a household filled with noise and laughter.

But, by 1973, Moe's forgetfulness and confusion are sufficiently worrisome that Gail takes him to a neurologist, who makes the Alzheimer's diagnosis. Over time, his temper turns violent; his children fear him and regard him as abusive. Gail blames his rages on the disease, saying she remembers a different man. But as his belligerence worsens, she finally sends him to a state mental hospital. He dies in a nursing home.

Carrying a gene associated with early-onset Alzheimer's is a guarantee of disaster: Everyone who has it will develop the disease, and so will approximately half that person's offspring. Moe's family, however, is particularly unfortunate: Of his six children, only Karla has been spared.

Kapsambelis tells the extended family's story in pointillist detail, perhaps too much so for some readers. A DeMoe family tree helps keep the relationships straight, while a generous array of photographs underlines the poignancy of their fate.

"The Inheritance" is equally concerned with the history of Alzheimer's research. Dr. Francisco Lopera, who spent years traveling the dangerous back roads of Colombia to investigate the disease, emerges as an especially sympathetic figure. Kapsambelis is also a fan of the University of Pittsburgh's Dr. Bill Klunk, a pioneer of brain imaging.

The case of Dr. Pearson "Trey" Sunderland III, chief of geriatric psychiatry at the National Institute of Mental Health, is more complicated. For all his brilliance and personal charm, Sunderland was compromised by a consulting relationship with the pharmaceutical company Pfizer, manufacturer of Aricept. Sunderland promoted the Alzheimer's drug without disclosing the extent of his financial ties to Pfizer, and eventually pleaded guilty to a criminal conflict of interest.

Kapsambelis carefully lays out the somewhat arcane internecine disputes within the field between, for instance, those who attribute Alzheimer's primarily to amyloid plaques and those who fault tau tangles.

She notes that early intervention is the holy grail of Alzheimer's research which is why families like the DeMoes, who carry an autosomal dominant gene mutation, are so important. The DeMoes, who worked with both NIMH and Pitt, are now part of the Dominantly Inherited Alzheimer's Network, a major international study aimed at finding drugs to prevent or halt the disease.

Most won't benefit directly from the study, and traveling to Pittsburgh for batteries of tests has at times strained their health. But the DeMoes remain highly motivated. "If their bodies could help science ferret out an answer," Kapsambelis writes, "they might save their children."

The younger DeMoes Gail's grandchildren and their cousins have faced difficult decisions about whether to submit to genetic testing, and whether to have children. Relatives already diagnosed have lost not just memory and jobs, but all but their most steadfast friends. Their caregivers sometimes have had to resort to deception to move them to nursing homes. "No matter what decisions you make, you never feel good about them," Karla says.

To both the Linders and the DeMoes, medical genetics offers the possibility of a reprieve. "We now understand the gene and its impact on our bodies," Linder writes. "For us, this means hope, and the chance to change our fate."

The DeMoes, too, are waiting, as clinical trials of potential Alzheimer's drugs proceed. "Tragedy would intertwine with their blessings," Kapsambelis writes, "until they found the thread that would lead them out of the labyrinth."

Julia M. Klein was a finalist for the 2016 National Book Critics Circle's Nona Balakian Citation for Excellence in Reviewing.

'The Family Gene' | By Joselin Linder, Ecco, 261 pages, $28.99

'The Inheritance' | By Niki Kapsambelis, Simon & Schuster, 344 pages, $26

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'For us, this means hope': Exploring the promise of genomic medicine - Chicago Tribune

A natural system for silencing genes that appears to be a way the bodys genetic material defends itself from unwanted changes is helping develop resistant crops but has not yet translated into many clinical therapies, said a 2006 Nobel Prize for Medicine recipient.

Dr. Andrew Fire, of Stanford University, was the first G. Lombard Kelly Lecturer on Thursday at the Medical College of Georgia at Augusta University. He shared the 2006 Nobel Prizein Physiology or Medicine for discovering the mechanism of RNA interference. Short pieces of double-stranded RNA (molecules that transmit genetic material) coded to a particular gene can block that gene from creating a protein, silencing that gene.

Fire first published on RNA interference in 1998, and in the years since then, RNA interference has attracted a lot of attention from both research and clinical standpoints from researchers who want to use it to target particular genes. The system, which might be a way for cells to defend against things such as viruses that attempt to assert themselves into the genome the total genetic material could also be one of the reasons why many early gene therapy trials failed.

What researchers hoped were very intelligent, scientific ways of manipulating these systems turned out to be manipulations that were recognized by the organisms as often unwanted information trying to make itself heard, Fire said. The organisms then responded to that. And those mechanisms are very interesting and exciting and one of those mechanisms is RNA interference.

Fires work was in nematode worms and it turns out that it it is much more difficult to get RNA into mammalian or human cells because it gets degraded in the body.

Its been critical to do any of those applications to develop ways of encapsulating and protecting the RNA in order to get a biological effect, he said.

While his lab has not done that work, others have made impressive progress in achieving that, Fire said. For instance, one company is in Phase III clinical trials using a RNA interference drug to combat defective amyloid protein production in the liver that causes fibril tangles to form in organs, where even blocking a significant percentage has a big clinical effect. Such applications might be more realistic for therapies than say something such as cancer, Fire said.

In some of those cases a modest effect can be quite beneficial, he said. That is something that is challenging with cancer because if you have a modest effect on cancer, generally the cancer just evolves to match that.

RNA interference might be useful for more precisely characterizing what genes are active in a tumor, for instance, and points toward ways to more precisely attack it, Fire said. It could also be helpful in moving toward more personalized medicine, he said.

In agriculture, however, RNA interference is proving to be more successful in creating genetically modified organisms that, for instance, could be more resistant to pathogens or extreme conditions, Fire said. That work predates the discovery of the precise mechanisms of RNA interference, he said, but it is still a useful tool for helping to create those organisms.

Some of those strains or species will be useful for mitigating what are really substantial problems in crops, in mitigating hunger, Fire said. So there is a benefit to this in agriculture.

Reach Tom Corwin at (706) 823-3213or tom.corwin@augustachronicle.com.

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Nobel Prize winner discusses gene therapy at AU - The Augusta Chronicle

ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by a team of researchers from institutions around the world, including Baylor College of Medicine, Baylor Genetics and Texas Childrens Hospital, appears in Nature Genetics.

We were reviewing the genomic data, the analysis of all the genes, of six patients who share similar clinical features, but did not find any of the already known disease-associated genes to be involved, said co-first author Dr. Xia Wang, assistant professor of molecular and human genetics at Baylor. Instead, we found that the patients carry novel mutations, not previously described by other researchers, in the ABL1 gene, a gene that until now had been seen to undergo genetic changes in cancer cells.

The genetic changes involving the ABL1 gene in cancer cells consist in the ABL gene fusing with another gene, the BCR gene, in chromosome 22, which is then called the Philadelphia chromosome. This change occurs only in cancer cells, specifically leukemia or blood cancer cells, and not in the other cells of the body. On the other hand, the novel mutations in ABL1 discovered here are different from those described for the Philadelphia chromosome and are present in all the cells of the body at birth.

The new mutations of ABL1 and the similar clinical features are inherited together, which made us think that the gene mutations could be good candidates to explain the patients clinical features, Wang said.

The patients clinical characteristics include heart defects and dilation or widening of the aortic artery, which can predispose to rupture of the aorta, a life-threatening condition, as well as skeletal conditions, such as joint problems and particular facial features, among others.

From studying the clinical and genomic information of immediate relatives of affected individuals, the researchers learned that in some of the patients the ABL1 mutation is de novo or new it is present only in the patient, but not in the parents, said co-senior author Dr. Yaping Yang, associate professor of molecular and human genetics and senior laboratory director of Baylor Genetics. In some of the families, the ABL1 mutation is present in several generations.

Providing answers for families

One of the families in our study has four generations affected with this disorder, said co-senior author Dr. Christian Schaaf, assistant professor of molecular and human genetics at Baylor. Some of the members of the family had been given a diagnosis of Marfan syndrome, a classic genetic disorder that shares clinical similarities with the condition we were studying. They received that diagnosis on the basis of their skeletal features, but more importantly based on the dilation of the aortic arch, which predisposes to rupture of the aorta. Interestingly, it was only a clinical diagnosis; they did not have a genetic diagnosis of Marfan syndrome, which is caused by mutations in a different gene, called FBN1. The condition looked like Marfan syndrome, but it was not.

The scientists think that the findings of this research would help this family in several ways.

By uncovering the genetic cause of this condition we can provide this family with specific clinical considerations, Schaaf said. Family members have been going through testing to determine whether their aorta is dilating, but now we have a genetic test that would let them know who is at risk. Those who carry the mutation in ABL1 are at risk and need routine testing of their aortas; but those that dont carry the mutation are not at the same risk. We know that the ABL1 mutation is dominant having the mutation in one of the two copies of the gene is enough for the individual to have the condition. It means that a person having the mutation has a 50 percent chance of passing it to his or her children.

Interestingly, according to the information we have, there is no history of cancer in these families, Schaaf said. Vice versa, patients with cancer associated with the Philadelphia chromosome are not at increased risk for heart disease or aortic dilation, because in their case the mutation is limited to the cancer cells.

The power of an unbiased comprehensive approach to study the genetic causes of diseases

This is a rare condition, Yang said. By the end of this study we had sequenced the genes of 7,000 patients, most of whom have developmental problems. We found seven patients who carry a disease-causing mutation in ABL1. Six patients were included in the publication; the seventh patient was not included due to lack of interest in participating in this research.

The discovery that ABL1 also is associated with human developmental disorders would not have surfaced had the researchers taken a targeted approach to determine the genetic cause of their patients condition.

If instead of looking at all the genes in the genome we had looked only at genes we know are involved in cardiac and skeletal conditions, features associated with this syndrome, we would have never seen that ABL1, a gene that until now had only been linked to cancer, is involved in this condition, Schaaf said. Taking the unbiased approach often times pays off.

ABL1 is an important gene that has been studied extensively in cancer; I noted more than 1,500 papers in a PUBMED search. However, this is the first time inherited mutations have been identified and connected to a newly described specific syndrome unrelated to cancer, said co-author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. This work illustrates the wonderful collaborative synergy between clinical, clinical diagnostic and basic scientists here at Baylor.

Although this finding was a complete surprise, the extensive prior research on ABL1 changes and function in cancer should accelerate the research by geneticists to understand this new disorder, said co-author Dr. Sharon Plon professor of pediatrics - oncology and molecular and human genetics at Baylor and director of the Cancer Genetics Clinical and Research Programs at Texas Children's Hospital.

A full list of the authors of this study and their affiliations as well as the financial support for this project can be found here.

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Gene ABL1 implicated in cancer, developmental disorder - Baylor College of Medicine News (press release)

What happened

Shares of gene-editing pioneer Editas Medicine (NASDAQ:EDIT) rose over 17% today before settling near gains of 5% in the last hour of trading, after the company announced a strategic research-and-development collaboration with Allergan (NYSE:AGN). The pair will team up to advance and develop Editas' lead drug candidate, taking aim at a rare group of eye diseases collectively called Leber Congenital Amaurosis, or LCA. The rare inherited disease is detected at (or within months after) birth and can cause severe loss of vision or blindness.

Allergan, already a leader in treating and developing novel treatments for eye diseases, will also have exclusive access to license up to five of the gene-editing platform's ocular programs. Editas Medicine will receive $90 million up front, plus potential milestones and royalty payments. Of course, it's worth pointing out that even the lead program has yet to enter clinical trials.

Image source: Getty Images.

The partnership announcement specifically mentioned LCA10, which is one of 18 recognized types of LCA. Each type of the disease affects a different single gene, an important consideration for early gene-editing therapeutic candidates. That's because it will be easier to treat diseases with simpler genetic mutations affecting one gene (such as Friedreich's ataxia, sickle-cell anemia, and LCA) than it will be to treat diseases with more complex genetic influences (such as heart disease).

More specifically, there are good reasons for the company to initially focus on diseases affecting vision. CRISPR, the gene-editing technology used by Editas Medicine, has been shown in the past 18 months to restore sight in blind lab animals. Those external studies did not achieve very high efficiency rates and focused on diseases other than LCA, but there are encouraging similarities.

In the short term, given the early-stage nature of the technology and the company's pipeline, investors should focus more on the financial aspects of the deal. The $90 million up-front payment will provide a nice boost to the balance sheet, which showed $185 million in cash at the end of 2016. Plus, investors could expect additional up-front payments should Allergan license programs aside from LCA10.

It's also important to note that Allergan will be responsible for all expenses related to the development and commercialization of each program licensed, unless Editas Medicine exercises its option to co-develop and co-market up to two of the programs licensed by its new partner. That will allow the gene-editing pioneer to avoid significant clinical, regulatory, and marketing expenses while developing and commercializing its platform.

This may not be a blockbuster deal for investors, but there could be more deals on the way, now that the company's technology platform is no longer operating under the fog of uncertainty caused by a recently settled legal dispute. Either way, Allergan is a deep-pocketed and experienced partner that can shield Editas Medicine from development risks as the latter prepares to bring a CRISPR therapeutic into the clinic for the first time.

Maxx Chatsko has no position in any stocks mentioned. The Motley Fool has no position in any of the stocks mentioned. The Motley Fool has a disclosure policy.

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Here's Why Editas Medicine Gained as Much as 17.2% Today - Motley Fool

Dr. Val Gene Iven goes over some medical issues with Marcus Smart, an OSU basketball star from 2012-14. [PHOTO BY BRUCE WATERFIELD, OKLAHOMA STATE UNIVERSITY]

Val Gene Iven grew up in Pond Creek, north of Enid, then graduated from OSU and the OU Health Sciences. In 1993, he became the team doctor for University of Tennessee athletics. In 2007, Iven returned to OSU in the same role. Iven's brother, Van Shea, was the longtime Channel 4 sports reporter who now is on staff with the Oklahoma Secondary School Activities Association.

I was born in Enid. I'd have had to be born at the house if I was born in Pond Creek.

Growing up in Pond Creek, small-town values, to me those are the best days of my life. Just because the community, your work ethic, growing up on a farm, school system, everybody in town knew you. Can't beat that.

I thought at a pretty early age I wanted to be a doctor. Probably somewhere in the junior high years. I loved the farm life but had terrible allergies, just couldn't be around wheat dust. I could be on the tractor, but the wheat dust just ate me up. So I kind of thought, I want to be a doctor. Had a great role model in Enid, my pediatrician, Dr. (Robert) Shuttee. Went to college, and that's the route I went and never wavered.

Got my M.D. from OU Health Sciences Center. Stayed there, did my residency there in family medicine. Then stayed there and did a fellowship in primary care sports medicine. I was the first fellow that they had in primary care sports medicine.

I thought I wanted to go into medicine and probably thought early on, I just liked kids, maybe going into pediatrics. But I loved sports. Grew up around sports. Tried to combine the two worlds.

Right out of my fellowship, '93, there were a couple of openings at Division I, Tennessee and Florida. Interviewed with both. Tennessee, got the call back from them first. Didn't know anybody at Knoxville or anybody affiliated with the university. I remember telling mom and dad, I'm going to go do this for two or three years and I'll be back. Dad reminded me of that when I came back 13 years later.

This job is a lot that you don't learn in med school. There's just so much nowadays, from the NCAA, from the Big 12. It's much more than just being a physician. From all the things we do in regards to training, from rehabilitation, from nutrition, the whole world of drug testing. All of the people that you have to communicate with nowadays, in regards to coaches and administrators and families. So it's grown so much over the years, it's just a full-time job.

The opportunity brought me back to Stillwater. I had kept in contact with people. And Dr. (Mark) Pascale, our orthopedist, called and said the team physician, Dr. Ken Smith, who had replaced Dr. (Donald) Cooper, decided he was just going to fulfill a role in the student health center and they were looking for somebody full time. It was just an opportunity I couldn't pass up. Your folks are back in Oklahoma. My grandmother at the time was nearing 100. Kids having the opportunity to be around their grandparents. Being back at your alma mater.

Great opportunity in the SEC, meet those people. Now back at your alma mater for 10 years. I've just been blessed.

I missed most of Coach (Eddie) Sutton. But yeah, we've had unprecedented times now, in regards to the run we've had in football, in particular. When I first got back in '07, we were in the process of building. I remember (growing up) sitting in the end zone, wasn't bowled in. Dad and I would drive over on a Saturday, just for the game, drive back. Just wasn't near the world it is now, game day or facilities. So we've come a million miles.

Van Shea is six years younger. Mom thought she was pretty clever with our names. Dad's name is Gene. So she started with Val Gene. She'd heard there was a Val Gene's restaurant. I think that was part of it. And once she came up with Val Gene, she couldn't go with Frank. So she had to come up with something. And we've both been called each other's names.

I'm completely just Van Shea's brother. Anywhere I go, anybody I'm introduced to, it's all, Oh, your Van Shea's brother. And I'm proud of that.

Pond Creek is our roots. That's your family. That's what you're always going to remember and go back to in life in regards to kind of where you got your values and knowing people. I credit a lot of things I've learned through the years, dating back to my days from grade school and high school in Pond Creek.

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Collected Wisdom: Dr. Val Gene Iven combines love of sports with ... - NewsOK.com

Viable Editing

One of the most fascinating and promising developments in genetics is the CRISPR genome editing technique. Basically, CRISPR is a mechanism by which geneticists can treat disease by either disrupting genetic code by splicing in a mutation or repairing genes by splicing out mutations and replacing them with healthy code.

Researchers in China at the Third Affiliated Hospital of Guangzhou Medical University have successfully edited genetic mutations in viable human embryos for the first time. Typically, to avoid ethical concerns, researchers opt to use non-viable embryos that could not possibly develop into a child.

Previous research using these non-viable embryos has not produced promising results. The very first attempt to repair genes in any human embryos used these abnormal embryos. The study ended with abysmal results, with fewer than ten percent of cells being repaired. Another study published last year also had a low rate of success, showing that the technique still has a long way to gobefore becoming a reliablemedical tool.

However, after experiencing similar results with using the abnormal embryos again, the scientists decided to see if they would fare better with viable embryos. The team collected immature eggs from donors undergoing IVF treatment. Under normal circumstances, these cells would be discarded, as they are less likely to successfully develop. The eggs were matured and fertilized with sperm from men carrying hereditary diseases.

While the results of this round of study were not perfect, they were much more promising than the previous studies done with the non-viable embryos. The team used six embryos, three of which had the mutation that causes favism (a disease leading to red blood cell breakdown in response to certain stimuli), and the other three had the mutation that results in a blood disease called beta-thalassemia.

The researchers were able to correct two of the favism embryos. In the other, the mutation was turned off, as not all of the cells were corrected. This means that the mutation was effectively shut down, but not eliminated. It created what is called a mosaic. In the other set, the mutation was fully corrected in one of the embryos and only some cells were corrected in the other two.

These results are not perfect, but experts still do find potential in them. It does look more promising than previous papers, says Fredrik Lanner of the Karolinska Institute. However, they do understand that results from a test of only six embryos are far from definitive.

Gene editing with CRISPR truly has the possibility to revolutionize medicine. Just looking at the development in terms of disease treatment, and not the other more ethically murky possible applications, it is an extremely exciting achievement.

Not only could CRISPR help eradicate hereditarydisease, but it is also a tool that could help fight against diseases like malaria. There is a long road ahead for both the scientific and ethical aspects of the tech. Still, the possible benefits are too great to give up now.

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The First Results of Gene Editing in Normal Embryos Have Been Released - Futurism

A growing and increasingly longer-living global population makes healthcare one of the most attractive sectors for investors, but I thinkthat genetic research, robotic surgery, and marijuana legalization could be the industry's biggest money-making opportunities. If so, then Illumina Corp.(NASDAQ:ILMN), Intuitive Surgical (NASDAQ:ISRG), and GW Pharmaceuticals (NASDAQ:GWPH) could be smart stocks to buy.

Researchers are increasingly finding that disease is caused by genetic abnormalities, and often, those discoveries are being made using machines and disposable supplies sold by gene-sequencing giant Illumina Corp.

IMAGE SOURCE: GETTY IMAGES.

Illumina is the largest manufacturer of systems used to sequence genetic code, and it's launching new machines this year that could make gene sequencing quicker and cheaper.

There are more than 7,500 of Illumina's machines installed at customers already, and increasing spending on DNA-driven research projects globally, such as precision medicine initiatives in China and the United States, should provide significant revenue and profit tailwinds for years, if not decades.

The company's machines can cost $1 million, or more, but the company really benefits from the ongoing sale of consumables necessary for these machines to operate. As more machines are deployed, revenue for consumables is growing, and since consumables offer more attractive profit margins, that's fueling earnings growth. Since 2011, Illumina's sales and profit have grown by compounded annual rates of 18% and 21%, respectively.

Although the boom-and-bust nature of research budgets means there will be some quarters that are better than other quarters, I believe Illumina's unlikely to lose its dominant position in this market, and if I'm right, then a trend over time toward medicine that aims to correct genetic abnormalities will provide significant opportunities for Illumina to reward investors. The company's newest machines could accelerate that trend, because they could eventually help lower the cost of sequencing genomes from $1,000 today to $100. The NovaSeq 6000, which costs about $1 million, began shipping this quarter.

Good news! Surgery is getting increasingly more precise, and that's reducing recovery times and improving patient outcomes.

At the forefront of this trend is robotics, and when it comes to robotic surgery, there's no better pure-play stock to buy than Intuitive Surgical.

Using research pioneered by DARPA for use on the battlefield, Intuitive Surgical pioneered the development of sophisticated machines that allow surgeons to control robotic arms when performing many surgeries, including prostate and gynecological procedures. Advances in these robotic systems should significantly expand their use in more procedures in the coming decades.

Today, there are almost 4,000 of Intuitive Surgical's da Vinci robotic systems installed at hospitals, and similar to Illumina, the high cost of these machines is only part of the reason I think Intuitive Surgical's going to be a big, long-term winner.

A da Vinci system can cost a hospital $1.5 million, but the average amount spent on replacement instruments and accessories used in operations is especially lucrative. According to management, every da Vinci procedure can produce up to $3,500 in instrument and accessory revenue. That's a lot of margin-friendly revenue when you consider that over 4 million procedures have been performed with these systems, including 750,000 last year alone. Instrument and accessory revenue totaled $1.4 billion, or about 70% of sales, in 2016.

SOURCE: INTUITIVE SURGICAL.

As robotic surgery systems improve, surgeons become more comfortable with them, and as use expands into new areas, such as colorectal surgery and hernia repair, it wouldn't surprise me if Intuitive Surgical's sales and profit march considerably higher over the coming decade.

Overwhelmingly, Americans view on medical marijuana has shifted positive, and as a result, over two dozen U.S. states have passed pro-medical marijuana laws that break down barriers to access.

IMAGE SOURCE: GETTY IMAGES.

While no one knows how a new administration in Washington, D.C. may affect marijuana momentum in the short term, the long-term potential for marijuana to gain ground as a viable alternative medicine is big.

GW Pharmaceuticals could be the drugmaker best positioned to profit from a widespread embrace of medical cannabis. The company's been working on marijuana-based medicines since the 1990s, and it could soon launch its first marijuana derived drug in America.

Last year, GW Pharmaceuticals reported trial results from three separate studies showing that a purified formulation of cannabidiol, or CBD, can reduce the number of seizures experienced monthly by patients with tough-to-treat forms of childhood-onset epilepsy. Specifically, GW Pharmaceuticals showed that patients receiving its Epidiolex experienced about 40% fewer seizures than they did before beginning treatment.

The positive efficacy, plus a safety profile that doesn't seem to be raising eyebrows, suggests that Epidiolex could become an important new drug used by doctors to treat patients who don't respond well to existing epilepsy medications. GW Pharmaceuticals estimates that up to one-third of the 2.2 million epilepsy patients living in the U.S. aren't responding adequately to existing medication.

If the FDA green-lights Epidiolex (management plans to submit an application to the regulator soon), then it can be prescribed by doctors nationwide, regardless of whether medical-marijuana laws have been passed in the doctor's state. That's potentially a huge advantage over medical dispensaries, which only market products without the FDA's blessing in states that have passed laws that are friendly to medical marijuana.

GW Pharmaceuticals isn't stopping its marijuana research with epilepsy, either. The company's studying marijuana cannabinoids in other indications, and while results in the past haven't panned out nearly as well as in epilepsy trials, that doesn't mean programs evaluating it in schizophrenia and autism won't bear fruit.

Because I believe that most Americans will continue supporting access to medical marijuana, and that improving perceptions will remove the stigma associated with its use, the future could prove to be very bright for GW Pharmaceuticals shareholders.

Todd Campbell has no position in any stocks mentioned.His clients may have positions in the companies mentioned.The Motley Fool owns shares of and recommends Illumina and Intuitive Surgical. The Motley Fool has a disclosure policy.

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3 Huge Healthcare Trends and How to Invest in Them (Hint: One Is Marijuana) - Motley Fool

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the Group on Human Molecular Genetics of the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes the Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a wide group of experts of the Center for Genomic Regulation (CRG) and the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation -p.Q638*- located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston," says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective -says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome."

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease."

"All these clinical doubts -continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them."

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective" concluded the researcher.

Crowdfunding: when society supports scientific research

The members of the Group of Human Molecular Genetics of the University of Barcelona and the CRG are currently in contact with the team of Professor Schaaf and three families of patients diagnosed with Schaaf-Yang syndrome in the Iberian Peninsula.

In December 2026, the first author of the study published in Scientific Reports, Roser Urreitzi, researcher of CIBERER and lecturer at the UB, coordinated the meeting between the experts and the affected families. The meeting took place at the Faculty of Biology of the University of Barcelona and was a new encouragement for the collaboration of researchers and affected families in future projects with the participation of the UB, CRG and CIBERER Biobank, in Valencia. This cooperation has also allowed the three patients to be examined by the same clinical expert: the pediatrician Dr Anna M. Cueto, assistant doctor and clinical geneticist at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron in Barcelona. This is clearly a new progress in the field of ultra-minority diseases.

Continued here:
Gene that causes rare disorder, Opitz C syndrome, identified - Science Daily

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March 10, 2017 From left to right, the experts Susana Balcells, Daniel Grinberg and Roser Urreizti at the Faculty of Biology of the University of Barcelona

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and 60 people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discovering the genetic bases of this syndrome which, so far, has no treatment, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a wide group of experts of the Center for Genomic Regulation (CRG) and the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation p.Q638 located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston," says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome."

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease."

"All these clinical doubts continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them."

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective," concluded the researcher.

Explore further: Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome

More information: Roser Urreizti et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes, Scientific Reports (2017). DOI: 10.1038/srep44138

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Researchers find a gene that causes Opitz C syndrome - Medical Xpress