Gene therapy: News digest for 7/31/16

Spinal Muscular Atrophy

The FDA has granted a breakthrough therapy designation to AVXS-101 (AveXis, Inc.) for the treatment of spinal muscular atrophy (SMA) type 1 in pediatric patients.

 Brain Cancer (Glioblastoma)

Kingston, Ontario, band and Canadian rock icons the Tragically Hip launched their 15-date summer tour in Victoria, BC, this past weekend, performing in support of their 14th studio album, Man Machine Poem, and starting on what for the group’s fans, the band members themselves and literally all of Canada will surely be an emotion-laden trip …
Researchers show a new strategy, based on targeting specific surface molecules, that eliminates most of the cancer cells in a mouse model of glioblastoma.

Blood Cancer

Spark, Pfizer receive US FDA Breakthrough Therapy status for SPK-9001 to treat haemophilia B

pharmabiz.comSpark Therapeutics and Pfizer Inc. announced that the US Food and Drug Administration (FDA) has granted breakthrough therapy designa…
Read more about Ziopharm Oncology’s Phase 1 adoptive cellular therapy study with CD33 CAR-T

Metabolic Disorders

“We are excited by the promise of Selecta’s immune modulating therapies to enhance gene therapies for rare and serious diseases, like MMA and OTC,” said Werner Cautreels, PhD, Chairman, CEO and President of Selecta Biosciences. “Selecta’s novel approach is important for addressing the immunogenicity related to the administration of gene therapy vectors, and our collaboration agreements with the NHGRI, MEE, and ICGEB are expected to enable the development of these novel treatments.” Selecta’s SVP-Rapamycin (SEL-110) demonstrated in animal models an ability to mitigate the formation of antibodies against gene therapy vectors and lessen inflammatory immune responses against transduced cells. By avoiding these undesired immune responses, SVP-Rapamycin (SEL-110) immunotherapy could have the potential to keep patients eligible for subsequent gene therapy doses, a feature not available with current gene therapies. SEL-212, the combination of SVP-Rapamycin (SEL-110) with pegsiticase, a uricase enzyme


Last week, The US National Institutes of Health (NIH) awarded $30 million to six research collaborations in annual funding to help advance science towards a cure for HIV.

Personalized Medicine
Read how researchers are using animal models to improve understanding and treatment outcomes in ALS with personalized medicine, gene therapy and biomarkers.

Clinical  Trial Mortality

Loss of lives in clinical trials has companies, and investors, proceeding with caution.


A new gene-editing technique with potential to revolutionize cancer treatment has U.S. and Chinese scientists in a race to test it on humans.


NF1: Neurofibromatosis 1 news digest for 7/30/16


Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1
 UAB Medical Genomics Laboratory Refines Its Genetic Testing Technology

UAB Medical Genomics Laboratory Refines Its Genetic Testing Technology

newswise.comThe Medical Genomics Laboratory at UAB is expanding its technological array with a new pane…


Genetic Makeup May Make Radiation Riskier for Pediatric Cancer Patients

Genetic Makeup May Make Radiation Riskier for Pediatric Cancer Patients

ucsf.eduGenetic vulnerabilities associated with childhood cancers may make children undergoing radiatio…


Childhood Cancer Research at UCSF to Transcend Tissue Types With Innovative Grant

Childhood Cancer Research at UCSF to Transcend Tissue Types With Innovative Grant

ucsf.eduResearchers at UCSF are leading a five-year, $10 million research project dedicated to pediatric cancer,…

Cancer causing genetic condition risk lower than previously thought

sciencedaily.comThe expected odds of children having a genetic condition which causes learning difficulties and tumors have been dramatically cut, than…


This baby was born free of cancer gene thanks to miracle doctors

This baby was born free of cancer gene thanks to miracle doctors is the “designer baby” who has been saved from cancer before even being born.

Optic Glioma and brain tumors

Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

7thspace.comOptic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mut…

Rare Disease: Vinblastine Controls Neurofibromatosis-1 with Optic Glioma

Wolters Kluwer Health

Wolters Kluwer Health

journals.lww.comBackground: One of the well-established methods used to determine endurance training intensity for patients in outpatient cardiac rehabilitation (C…
'She should have had a scan'

‘She should have had a scan’ Hooke had perfect handwriting before she broke her arm. It was an awkward fracture, about this time last year, right near the elbow. When the Timaru 8-ye…

Hearing Drug Therapy

Anticancer Drug Restores Hearing in Some Patients With Neurofibromatosis

oncologynurseadvisor.comDurable hearing response was achieved in more than one-third of patients with neur…

ADHD and Developmental Delay

Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms

7thspace.comCerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent rating…


Neurofibromatosis Treatment Market to Rise due to Growing Count of Drugs Under Clinical Trials |

medgadget.comThe growing count of drugs in clinical trials, poised to emerge as breakthrough treatment option…

New drug candidate developed against NF1 tumours

healthcanal.comBath researchers have worked with colleagues from the University of Michigan to design a pr…
Woman with no face says she is 'happy to be made this way'

Woman with no face says she is ‘happy to be made this way’ GRAPHIC CONTENT: Khadija Khatoon, from India, has severe distorted feature…
 Boy with tumours on his face rejects surgery to save his smile

Boy with tumours on his face rejects surgery to save his smile brave young boy in the US with a disfigured face has turned down the chance to have life…
Young Panguru girl's rare disorder sparks need for more awareness

Young Panguru girl’s rare disorder sparks need for more awareness

maoritelevision.comAt just two months old, Drew Perham was diagnosed with a rare condition called Neuro…
Boss refuses to fire employee with genetic disorder - Regional | The Star Online

Boss refuses to fire employee with genetic disorder – Regional | The Star Online JAYA: A customer in Singapore wanted a dishwasher suffering from a genetic …
Mother tumour ravaged her looks has life-changing surgery 

Mother tumour ravaged her looks has life-changing surgery Benhar, 39, from Casablanca, Morocco, has neurofibromatosis, a genetic condition wh
The teenage girl overjoyed to have her leg amputated

The teenage girl overjoyed to have her leg amputated Leigh, 14, from Cwmbran, Wales, was diagnosed with the genetic disorder neurofibromatosi…

Cardiovascular Disease

Researchers examine how neurofibromatosis causes premature cardiovascular disease

medicalxpress.comIt’s a fairly common genetic condition that can surface as a series of dark skin spots …


Dr. Michael Krauthammer on NF1 Mutations in Melanoma

Dr. Michael Krauthammer on NF1 Mutations in Melanoma

onclive.comMichael Krauthammer, MD, PhD, Associate Professor of Pathology, Yale School of Medicin…


Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics

Original Article

nature.comModern Pathology features diagnostic anatomic pathology and contains original scientific papers, selected short courses, appropriate special lectures, reviews, editorials, letters to the editor, and Academy News. In many…



Lauren Andreas Ager

Lauren Andreas Ager

chippewa.comSHAKOPEE, Minn. — Lauren Andreas Ager, 54, of Shakopee died Tuesday, Jan. 19, 2016, at University of Minnesota Medical Center, from peripheral n…

Cancer Risk Assessment

Neurofibromatosis — Best Data Yet on Risks for Cancer

medscape.comPatients with neurofibromatosis 1 have been reported to be at an increased risk for several malig…

Neurocutaneous Syndromes

60 Genetic Disorders Cause Skin And Nervous System Problems
ndtv.comThere are 60 genetic disorders that affect skin and nervous system in humans, researchers report.

Research Funding

DoD Neurofibromatosis Clinical Consortium Award – W81XWH-16-NFRP-CCA
open-grants.insidegov.comResearch this science and technology and other R&D cooperative agreement. See eligibility requirements, estimated fundi…

NF Research Centers

Physician-researcher struggles with challenging ‘Moonshot’ problem

Physician-researcher struggles with challenging ‘Moonshot’ problem

stljewishlight.comFor the past 25 years, Dr. David Gutmann has devoted his medical and research career to…
The UAB Mix - UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1

The UAB Mix – UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1

uab.eduOne major goal is the discovery of new genotype/phenotype correlations — how a particular muta…

Optimal play for a long view on AlphaCast

I am playing an EURUSD question on AlphaCast.  I made a heavy commitment early on.  I now feel that optimal play for prediction market profit maximization, if I have a view that I expect to hold for the life of the question, is to look at the lifespan of this question (in this case, to August 1st), and then titrate my view in over time.  I see the other players going long or short in time to the latest change in the market.  So if my view is short, wait for an uptick, short a small portion, and then wait for the next downtick/uptick for people to go long again, and short again, over the life of the question, until I’ve shorted my whole view.  This should get me the best price for the view over time, assuming that the rest of the crowd will always trade their expectations according the latest news.

I behave differently in market format versus survey format forecasting sites

In survey format I tried to cover every question including many I had no interest in, using an automated aggregation method.  I tried to get in at the very start of questions as much as possible and then have no choice but to stick to the end.  I comment a lot because there is less penalty for debate and the crowd in survey format tends to be much more social.

In market format I pick only those questions I have an edge in.  I tend to pick questions closer to expiry to gain quickly from misperceptions.  I only forecast questions that are in the middle of the probability range, say 25% to 75%.  I know that market format rewards making a smaller series of small corrections more greatly than making a single large correction and then waiting to expiry.  I cash out of questions frequently.  I comment little, out of experience not to give information away and not to try to mislead with excess information, because misleading can create enmity and cause people to want to take me down in trading.  Better quiet and incremental.

It stands to reason that if other participants are similar, these two kinds of markets should have qualitatively different response functions to changing information about a question.  I don’t know if this is true, but it’s something to think about.

Review of 대한민국 변호사: The Lawyers of The Great Republic Korea (** spoilers **)

I binge-watched the Korean TV series The Lawyers of The Great Republic Korea last week.  It is typical of the Korean romantic dramedy genre, with a love quadrangle consisting of two high-school friends who grow up to be an actress and a lawyer, a portfolio manager who marries and divorces the actress, and another lawyer who shacks up with and then abandons the lawyer, only to return.


Through a typical meet-cute process the abandoning lawyer defends the actress in post-divorce settlement hearings while the lawyer-friend-of-the-actress defends the portfolio manager.  Also, because this is  Korean love quadrangle, the abandoned lawyer is the plucky working-class girl with a heart of gold.  The portfolio manager is a rich cad with a scheming and toxic mother. The abandoning lawyer is eye candy who we expect to eventually hook up with the actress, which he kind of does in the end.  The plucky working class girl gets the rich portfolio manager after 16 hours of simmering.  The rich actress goes from being shut-in wife to sought-after star and of course works on a film-within-the-film entitled, winkingly, “Love Quadrangle”.

There are some semi-implausible timing issues in all of this.  The working class girl starts out as a coffee-serving clerk in the law firm of the abandoning lawyer, who eventually proposes that they move in together, which she accepts as a kind of marriage proposal.


Then after 2 years he leaves her for 6 years, with no notice but a phone call, to move to Los Angeles.  In retrospect it turns out that he had to go donate a kidney to his father blah blah blah and couldn’t tell her because he didn’t want to burden her blah blah blah.  We get to see the surgery scar on his otherwise athletically flawless stomach.  She waits for him 6 years without dating anybody else.  This seems both totally implausible and plausible for a girl with no self-confidence whatsoever and no other prospects.  This is indeed how she is painted in the beginning, to the extent that we don’t see why handsome lawyer guy would want to move in with her.  After 2 years, they are not intimate enough for him to share family problems with her.  So that doesn’t add up.  It’s just the story, very broadly written.

To support this somewhat contradictory story, when we first see plucky downtrodden working class girl, she is wearing pants and a haircut designed to kill all male desire.


Then, as the romantic plotline advances and she starts to gain credibility as a rival for the portfolio manager’s affections versus her friend the actress, her hairstyle subtly improves.





At the end of the series, in terms of looks, she is a match for the actress.


The actress, to be honest, has a slightly butch duenna cast to her looks, which makes the progression to romantic parity a little easier.


So this hairstyle progression is a little card trick played by the manufacturers of this confection.  The woman playing the ugly girl in real life started working as a model.


The glasses and the hairstyle are model-fugly.  Take off the glasses and comb the hair and voilà.  It’s a cheap trick but an effective one if you combine it with a bunch of other cheap tricks, which is how this kind of sausage gets made.

Fashion makes an appearance in the story but only slightly.  At one point the portfolio manager takes to wearing shorts, which is a provocative challenge to the perception of his corporate standing.  His chauffeur then starts wearing short-sleeve suits with short pants. They have fun with it.  I’m having a hard time finding screenshots of this.  This is the chauffeur:


This is the kind of suit he was rocking.  Note it’s not just short pants but short sleeves that make the look unique.  This kind of fashion weirdness always crops up in Korean TV series and counts as a viewer bonus feature:


In another scene, the actress goes to diss her toxic mother-in-law, and she’s all Gucci’d up, while her mother-in-law is sitting in a hotel restaurant with another plain rich girl that she wants to be Daughter In Law 2.0.


At the end, for various reasons, the actress strikes a deal with the portfolio manager which means that he has to repudiate the working class heroine for 3 years, to suffer for his personality defects.


So the working class heroine is abandoned by Boyfriend #2, without notice, and she goes into hibernation again for another year.  This is really the most implausible part of the story, that a woman who is capable of attracting heavy duty male suitors without effort would also be quite willing to sit out the bulk of her 20s waiting for guys who don’t show up.  The stretches of time involved render that implausible and make the story seem that much more contrived.  But the stretches of time I take to be allegorical, not real, and represent how long things seem to be in such interludes.  Or it could be that these timelines are realistic for that culture, which I doubt.

In the end they finally get together, culminating in a closing Big Screen Kiss.  (BSK for Hollywood insiders.)  He proposes marriage and she says No, let’s date for another 2 years to finish out the agreement with his ex, then marry.  Forever delaying.  She’ll be in her 40s before they settle down and have kids.  But whatever, no rush.


This kind of TV series is written to be broadly entertaining, inoffensive, PG-rated family fare.  There are adorable little kids that show up from time to time, the children of the chauffeur.


And they eat lots of noodles.  In this genre there is generally a lot of eating of salt-of-the-earth local foods and they drink lots of rice wine to lower inhibitions and get to the heart of the matter.


Certainly there are people who sit out their lives, incapable of getting involved.  I’m just not sure that this set of people could really interact in the ways described.  It brings it down from a possible 10 to an average rating of 7.0, which is what fans of this genre gave it.