‘This is unbelievable’ Shock as Spanish tourist backlash hits Canary Islands – Express.co.uk

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In the first anti-tourism incident on the Canary Islands, chairs have been attacked on the beaches of Playa del Ingles and Maspalomas, which are popular among tourists visiting the holiday hotspot.

Authorities in the Canary Islands have condemned the events of Barcelona and Mallorca where anti-tourism protesters have campaigned against people enjoying their holidays.

The president of the Spanish Federation of Associations of Travel Agencies (FEAAV), Rafael Gallego, said: Tourism-phobia has been worrying us since last summer, when the problem began.

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I never thought I would have to defend tourism, this is unbelievable

Mariano Rajoy

Back then, the Vice-President and Councillor of Tourism of the Balearic Islands, Biel Barcel, made statements on this matter and the FEAAV warned him of the danger of its demonstrations.

Stickers with anti-tourism messages have been stuck on hundreds of cars in Mallorca, with messages such as tourism kills Mallorca.

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Other messages read: Have you ever thought that this car shouldnt be here when you have seen one of the 100,000 rental cars that we have in Mallorca? Today is the day.

Spanish prime minister Mariano Rajoy has condemned protestors, warning them the tourism trade is essential to the countrys prosperity.

He said: I never thought I would have to defend tourism, this is unbelievable.

Mr Rajoy said tourism creates jobs for 2.5 million people, which is around 13 per cent of Spanish overall employment and contributes a lot to the economy in Spain.

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Anti-tourism protesters have campaigned against city breakers and cruise ships this summer in Barcelona and Venice, while films have emerged of rental bikes and tour bikes having their tyres violently slashed.

Mr Rajoy has blamed extremists for the anti-tourism protests and called for good judgement to isolate the protestors.

He said: We move forward and better when we walk together.

An anti-tourism march is planned in Mallorca for August 17 against the 75.6 million tourists who visit Spain each year.

The Canary Islands, which boasts 160 miles of beaches, attracts around nine million tourists annually.

Rafael Gallego, the chairman of the Spanish Association of Travel Agents, said: This tourismophobia has been worrying us since last summer.

In 2016 we noted graffiti and there was an aggression with a glass against tourists who were on an excursion, so we alerted that the situation could radicalise, which is what we have seen.

Read more here:

'This is unbelievable' Shock as Spanish tourist backlash hits Canary Islands - Express.co.uk

The 10 Best Private Islands in the WorldAnd Where to Find Them – HarpersBAZAAR.com

Tom Marchant is the co-founder of luxury travel company and trip planner, Black Tomato, which delivers luxe experiences around the world via inspiring itineraries and access to the globe's up-and-coming, remote destinations. Marchant's finger on the pulse of travel trends and the world's best in hotels, restaurants, destinations and honeymoons is unique and incomparableand he's sharing his expertise and curated lists of where to visit, stay, eat and more with BAZAAR.com.

While there are more island getaways and resorts than can be counted, having a private island at your disposal is (naturally) one of the most decadent and undeniably exclusive experience in existence. Remote, uncharted, unfettered and in many instances, inaccessible, these natural wonders can be the ultimate way to reset in style. Going off the grid has great implications for mental and physical well-being; and whether youre seeking a villa or suiteor an entire island all to yourselfthese are the very best private islands on which to unwind, rejuvenate and explore.

Take a note from Proust, who notably said, "The real voyage of discovery consists not in seeking new landscapes, but in having new eyes." On your very own retreat, you are bound to see dazzling flora and fauna (much of which is unique to these islands' isolated ecosystems) and taste and feel vibrant community cultures. Here, the top ten private islands on Earthand where to find them.

1 North Island: Seychelles

For something truly extravagant, look no further than North Island, where Prince William and The Duchess of Cambridge honeymooned. An exclusive and secluded paradise, this five hundred acre island is a sanctuary that has garnered Seychelles a reputation as the Galapagos of the Indian Ocean. With accommodations for just a few lucky travelers, the island is utterly tranquil and privateso much so that you likely won't see another guest throughout your stay.

Fly in by helicopter, landing discreetly at the on-site helipad, and check out the stunning white-sand beaches that line the east and west side of the island, with a library, spa, gym and 'round-the-clock in-villa spa treatments at your disposal. What makes this gem truly shine is the islands utterly bespoke and discreet serviceincluding a no menu policy. Here, the chef meets with each guest and creates inspiring meals based on their specific tastes and preferences, complemented with wine from their extensive cellar. The dedicated staff will set up a candlelight dinner anywhere, be it the Island Piazza, in-villa or by moonlight at one of the many secluded beach spots dotting the island. Renting out the entire island gives you exclusive access to its 11 villas, replete with giant terraces with sweeping ocean views, private butlers and island buggies. The crown jewel here is Villa 11, the 8,000 square foot and totally isolated villa with an oversized bath made for two and the best views on the island. It doesnt get much more glamorous than this.

Rates from $442,000 (for the entire island) for 7 nights. BOOK

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2 The Brando: French Polynesia

The Brando is truly worlds awayset on the otherworldly private island of Tetiaroaand a must for those seeking incredible flora and fauna in a secluded, authentic Polynesian setting. This stunning resort plays host to manta rays, sea turtles, exotic birds, tropical fish and each of its exclusive villas are positioned on heavenly white sand beaches. The ideal union of relaxation and exploration, check out the surrounding wildlife and lush setting by cycle, kayak, snorkel, paddle board, take a dip in Mermaid Bay or lounge at the beach and pool. Expect unforgettable sunsets, best spent in tree-top seating areas with cocktails, for unparalleled views across palm canopies.

All The Brando's villas are incredible and spacious (the smallest being 1,033 square feet) and designed to enhance the serenity of the island's natural surroundings. The Brandos ethos is inspiring: offer out of this world, authentic luxury and soul-enriching experiences in an environmentally sustainable and culturally rich way. The Brandos commitment to preserving and protecting the wondrous beauty and biodiversity of Tetiaroa expands to Polynesian culture itself, with its unique hospitality and traditions taking center stage at this magnificent spot. This is the ultimate private island, from feasting on fresh fruits grown in the islands orchards, enjoying shellfish prepared by a Michelin-starred chef, or indulging in a native spa treatment high up in the treescape, it will be hard to leave this slice of heaven. Expert Tip: Fly in by private air charter.

Rates from $3,066 per villa per night. BOOK

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3 Miavana: Madagascar

Madagascar is off the grid and home to an unbelievable 80% of extraordinary endemic greenery and plant-life found nowhere else on Earth. A stay at the heavenly Miavana, set to the dramatic backdrop of the Nosy Ankao archipelago, means experiencing truly unchartered territory. Miavana is an ideal private island escape thats set in over 37,000 acres of protected marine territory. Only 14 private villas comprise the island's accommodations, and a stay at this luxurious eco-lodge is right out of a Robinson Crusoe reverie.

Miavana is wild and isolated. A stay here will ignite the explorer in you, with days spent delving into lush tropical rainforests teeming with lemurs and watching turtles nest on pristine white beaches. So remote its only accessible by helicopter, this stunning lodge is the perfect starting point to explore the wealth of azure blue bays, beaches and hidden lagoons. The magic comes to life with activities like scuba diving, snorkeling from your villa and whale and dolphin watching excursions. If you want to unwind, theres no finer place to do it than at their world class spa. Accommodations are unparalleled here, and you dont sacrifice luxury for off the grid exploration. Miavana oozes elegance with award-winning architecture that seamlessly integrates barefoot luxury with European renaissance. Every secluded villa boasts private pools, ocean views and direct private access to the beach.

Rates from $2,500 per night, all inclusive. BOOK

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4 Petit St Vincent: Grenadines

If your goal is to fully disconnect on an exceptional private island, Petit St. Vincent is a must. Petit St. Vincent sits peacefully 40 miles south of St Vincent in the Grenadines and is accessible by private plane and boat. Once here, you will discover a deliberate absence of TV and internet in the cottages to encourage unfettered immersion in all the wonders the island has to offer. Unique to this haven is a flagpole system outside each villa, where attentive butlers will come by for room service, cocktails, to book a massage or anything travelers desire. Villas here are tastefully decorated with plush beds, loungers, indoor and outdoor dining areas, sun decks and some even have beachfront gardens.

In a nod to heritage, villas here are constructed with local materials to discreetly blend into the landscape and are replete with panoramic views of the ocean. The islands on-site PADI diving instructor will get you ready for a deep plunge into the abyss, and the property has a private boat thats perfect for nearby island-hopping or a champagne picnic on a deserted beach. Unwind at Petit St Vincents stimulating treetop luxury spa with therapeutic massages and facials and for yogis, beachside morning sessions are a great way to start the day. Lauded for top notch service, fresh local cuisine and utter seclusion, this is truly one of the best island getaways out there.

Rates from $1,100 per day; includes 3 gourmet meals, butler service and use of all non-motorized water sports and island facilities. BOOK

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5 Tagomago Island: Spain

Secluded, private islands in the Mediterranean arent a common site, but the ultra-luxurious and secluded Tagomago hits all the high notes. Just a 10-minute helicopter ride from the bustle of Ibiza to a private helipad, this setting could not seem more far flung from the Ibiza scene. Perfect for those who want to party on Ibiza and then unwind in utter seclusion, this epic hilltop estate is surrounded by turquoise blue waters and skies and a completely isolated, private beach. Severe, rocky cliffs are home to an extravagant, elegantly appointed 5 bedroom villa, with dramatic terraces and views of the Mediterranean Sea from all angles, and best experienced poolside.

You can even (safely) see Ibiza from a distanceand relax while doing it. Take a walk down the bucolic country paths, nature reserve and bird sanctuary on site. Theres even your very own private beach club with a full restaurant and bar at your disposal. Rest assured, you wont be on your ownthe property comes complete with a full staff including an Island Manager, private chef, kitchen staff, housekeeping, butlers, and even a captain for tender. Tagomago is perfect for underwater exploration of the Mediterranean, with deep cliffs and coves teeming with barracudas, exotic fish and even sharks. We'll admit, it's hard to figure out what this property doesnt havebecause at your disposal is a Mangusta yacht, 2 boats and a helicopter for easy transfer to and from Ibiza.

Rates from $218,000 for seven nights; all inclusive and sleeps up to 10 guests. BOOK

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6 Mnemba Island Lodge: Zanzibar

If the goal is to get lost amid unpretentious beachfront luxury, head to Mnemba Island, picturesquely situated on the pristine Indian Ocean. A place that was made for romance, envisage fragrant sea breezes stirring canopied beds in your beachside Banda. Flanked by white coral sloping into the turquoise Indian Ocean, the 11 secluded Bandas are a perfect place to stare off into the distance in the privacy of your own beach sala and plush Zanzibari sun bed.

Bandas are delicately composed with soft natural fabrics, traditional woodcarvings, magnificent stone showers and all with the quite necessary luxury of a personal butler. Sea kayaking in this island paradise is a must, and diving doesnt get any better than the fully stocked PADI dive center, where you will uncover marvels like giant turtles, vibrant tropical fish, and prehistoric giant turtles. The food here is fresh and fun with locally sourced fruit, fish, lobsters, crabs and prawns arriving every morning. Take a long walk on the beach and return to an amorous candlelit dinner on the beach as the sun sets in all its glory.

Rates from $1,270 per person; includes 3 meals, select spirits wine and beer, water sports and transfers. BOOK

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7 Four Seasons Maldives: Voavah, Baa Atoll

If you want to, literally, have it all then hard stop at The Four Seasons Private Island in the Maldives, the first exclusive-use UNESCO retreat. The supremely luxurious Voavah island has all the Four Seasons luxuries one expects, but this property takes all inclusive to the next level, with access to a 7 bedroom luxury resort, a 92-foot mega yacht and multiple poolsall in a maritime area that is inaccessible to anyone else. The Beach House is stellar, set up with a formal dining room, library, gym and pool deck.

The food here is locally sourced, exceptional and chefs will cater to your every whim. The on-site yacht, Voavah Summer, is a perfect base to deep dive into the Maldives and meet some of the robust population of manta rays who call it home. This private island escape is truly best in class as can be seen with the expertly curated staff that includes an on-site doctor, Beach House Maitre D, therapist and yogi, yacht captain and, of course, diving and snorkeling instructors.

Rates from $46,360 per night; all inclusive, accommodating up to 22 guests. BOOK

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8 Orpheus Island: Australia

Seemingly out of a Jurassic Park set, Orpheus Island is the most secluded island in the Great Barrier Reef and home to a protected, densely forested national park that houses dazzling wildlife like echidnas, bandicoots, vibrant tree frogs, ospreys and sea eagles. Renting out the island ensures the utmost privacy. Here, guided scuba and snorkeling excursions in the coral reefs surrounding the island happen via the resorts custom-built dive boat.

Rooms, suites and villas all face the mesmerizing Hazard Bay beach and can accommodate up to 42 guests, making this an idyllic corporate retreat for those in the know. The chef prepares a fresh, daily-changing selection of contemporary, locally-sourced, freshly-caught seasonal fare paired with some of the regions most inventive and stunning local wines. Pro tip: take your dinner under starlight on the islands private jetty or set sail to a secluded bay. Its absolutely worth a visit to the day spa, and splurge on the 3-hour long Sacred Spa Journey, a restorative must. For added serenity, ask for the massage portion to be performed on the beach. Pure bliss.

Rates from $189,605 for seven nights, all inclusive, exclusive use of the island. BOOK

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9 Calala Island: Nicaragua

Unknown to most, The Caribbean side of Nicaragua is less developed and offers a quieter, more unspoiled coastline to relish. Enter Calalathis exceptional private island is nestled in the undiscovered part of Nicaraguas Caribbean Coast. This is one of the best properties in the entire country, so much so that it's worth scooping up all four suites.

Calala embodies discreet, Caribbean charm with furnishings designed by leading architect, Matthew Falkiner, using the finest handcrafted furniture from the local craftsmen. The Caribbean is not often associated with fine dining, but thats not the case here. Calala takes its food seriously with Executive Chef, Tom Morrell, leading the charge. This is the place to unwind, disconnect and take in a cocktail on any of the beaches that encompass the entire island. Service here is out of this world, with a team of 25 Calala-lalas (aka staff) for a maximum of 10 guests. A staff member for every 2-3 guests? Thats quite a ratio.

Rates by request. BOOK

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10 Amanwana: Indonesia

Amanwana is set in a dreamscape on the protected nature and marine reserve of Moyo Island. Just east of Bali, the island is surrounded by breathtaking turquoise waters and untouched reefs, making it the perfect set backdrop for diving and snorkeling. This is the private island for unheard-of nature excursions, and several starkly contrasting environments, from the savannah to tropical jungle and waterfalls. Amazing animal spotting abounds, with wild boar, macaque monkeys, sea eagles, osprey and indigenous Rusa Deer.

20 luxurious tents comprise Amanwana with a few options: beach-front tents steps from the ocean, or secluded tents deep in the jungle canopy. For the best of both worlds, book part of your stay in each. Tents are uber-luxurious (think glamping) and all come air conditioned for when it gets too balmy. Since youre already there, book an excursion on the Amanikan luxury cruiser to Komodo Island and keep your eyes peeled for the mythical Komodo dragon.

Rates from $550 per night for two people. BOOK

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The 10 Best Private Islands in the WorldAnd Where to Find Them - HarpersBAZAAR.com

Why the Faroe Islands want independence from Denmark – The Economist

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*" h&l;=v{|nX:t.c4A}lIYM%Y~Zvo]kC"*5I8_9uxgYuF.&=mxC@*3|o>({A(CL[]@K.In91$D-!/ 8!E|I`3 q@t{WU]~"S== Yd8A@|&v-K%If;pfPKqgWOlnP1$xwoTpa^Or?H _n|R9pz.0{#sSstR/r{%iedD(&"PbQ3w|qDp1-L/a0Si9*-Ft'Q^+`T v,hZa/). h LhpV8Sp84xs ^Q-KJS{Dxqe`?~? =: zrphiiD >)Bp1&8e9Y{A"+Qt -#>q/fMQ M,e4e$:,e5Q8oZ(Nq>N $TFe8exZ?]nFZ@K"#+,Iz(i_a3K*L7 Aq3W~-/ m%[ISY~TJO. ;*>20*]'s ,rUHqf2EF0}gBc+FvgJy*Q"U/#AP=Q?3J7E,3E~k*GHf=N|(iZeEB*'o}M=AO?Fsgr[6yc8zz#nZ;6lb l@tEao(8n@S6[7lW^LyE"3m/Y{Ji3=3Hi6CYv!- DfiV l*U2,f C8? l3rR KxLe%+*1PUrT_/&c<9fm-rx)Z"EFM+hg(d4MzRoU 1,{ TGmUeaniX08Ahap;E'Z'kiiU_Zum|=~.nSpwFlxUB3)Mk#p3ZY[5B[gu~#-2'>t2w$;H2z)n.HIS(SQ~1* Ee*V{m D`Wc`/zS?51BQ;_b`Onv-ZU"qnx"54ioUF(]EN ;gZL;whfe3:1x+L,,M~]KcXD6VFi=i]<1L;de u,3@k.oUNtM/A%?4Lq GlN01&Q&}Ehh]{NfaZU"dj

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Why the Faroe Islands want independence from Denmark - The Economist

Davis Islands neighbors may see relaxed golf cart rules | WFLA.com – WFLA

TAMPA, Fla. (WFLA) Visit Davis Islands in Tampa and you will see people puttering all over the place, on golf carts. Odd thing is, they are illegal on public roads. That could soon change on the island.

Neighbors are circulating a petition to designate the island a golf cart community.

Theyre hoping city council votes to make golf carts legal.

For the most part, Tampa police look the other way when they see them.

Harold Moore is the driving force behind a plan to make them legal.

We have too many speeders, so I think that this can be used as a traffic calming device, said Moore.

He sees a number of benefits.

Were so laid back. Ive lived here 39 years and I bought this cart about two months ago and the first tour that we took around the island, I said, there are things that Ive never noticed before, said Moore.

Making the island a golf cart community would relax some of the rules about required equipment.

You dont want underage kids driving the golf carts, but other than that, I dont know why its such a big deal, said Tampa Mayor Bob Buckhorn.

He lives on Davis Islands and has a golf cart.

You dont want these golf carts on Bayshore or Dale Mabry or the interstate, but certainly on the back roads of Davis Islands, its an easy way to move around and a lot of people do it, said Buckhorn.

Theyre quiet, dont pollute, are cheaper than a car and make parking easier near island businesses.

People have a tendency to be friendlier. They wave at one another. It just really adds to the ambiance of living here, said Moore.

A recent survey shows island residents favor them

There are a lot of people on the island that like their golf carts, that bought them specifically to use them on Davis Islands, said Mayor Buckhorn.

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Davis Islands neighbors may see relaxed golf cart rules | WFLA.com - WFLA

Day 4: Virgin Islands upset Brazil, historic Puerto Rico, Argentina qualifies – FIBA

10/08/2017

News

24 Yolanda Jones (PUR) - 5 Pamela Rosado (PUR) - Cuba v Puerto Rico, 2017 FIBA Women's AmeriCup 2017 (ARG), Buenos Aires(ARG), Group Phase, 9 August 2017

BUENOS AIRES (FIBA Womens AmeriCup) On the fourth day of competition, Virgin Islands shocked the continent to claim an overtime win over Brazil. Paraguay continued its magical run in the championship with an overtime win over Mexico, Puerto Rico got one step closer to the Semi-Finals after a historic first-time win over Cuba, and Argentina extended to a 3-0 record and qualified to the Semi-Finals.

Te perdiste la cuarta jornada de la #AmeriCupFemenino2017?

No te preocupes, aqu te presentamos un resumen con los resultados del da. pic.twitter.com/HlMS9SDV59

Overtime was needed for Paraguay to capture its second win of the FIBA Womens Championship over Mexico 73-67. The game was even, both teams led by monstrous performances from their offensive main weapons, for Paraguay it was Paola Ferrari who added 25 points, while Jacqueline Luna led the way for Mexico with a 24-point and 16-rebound double-double. Neither team could pull away and after 40 minutes of play, overtime was needed to determine a winner. The appeared the figure of Ferrari who led her team to a 9-2 performance in the additional 5 minutes to claim the win.

Qu partido! Paraguay necesit de TE para sellar la victoria frente a Mxico . Revive los mejores momentos del encuentro! pic.twitter.com/4znuX79lI0

In a major upset, Virgin Islands handed undefeated Brazil its first loss at the FIBA Womens AmeriCup with a 67-60 overtime win. From the get-go, the team coached by Wilo Colon matched up with the more experienced Brazil. With huge performances from Natalie Day and Imani Tate, who combined for 38 of their teams point, the Caribbean team came from behind and forced overtime. Brazil couldnt believe what was happening and the Virgin Islands grew in confidence, to produce a 9-2 overtime and claimed the shocking upset against the South American Champions.

Missed Virgin Islands' huge upset over Brazil ? We've got you covered! Here are the best moments of the game! #AmeriCupWomen2017 pic.twitter.com/MJh17Cdho8

Puerto Rico made history by claiming its first ever win over Cuba 70-67, and took a step closer to the Semi-Final qualification. Both teams had a slow start, but that all changed in the second quarter when with great energy Puerto Rico took control of the scoreboard with a 26-12 quarter. The second half saw Cuba start to chip away from the difference with great moments from Anisleidy Galindo, who had 20 of Cubas points. With less than a minute to go the difference was of three-points, Puerto Rico held the ball for time to expire and took the significant win. Pamela Rosado put on the Super Woman cape for Puerto Rico and produced 17 points for the Boricuas.

Revive lo que fue la primera victoria histrica de @fbpur sobre Cuba ! Aqu lo mejor del encuentro en el #AmeriCupFemenino2017! pic.twitter.com/J5l0zwxOhd

Argentina extended its record to 3-0 with a 70-47 win over Colombia. The Argentinians captured a slight lead from the get-go, and never relinquished the advantage. With 15 assists and taking advantage of Colombias 19 turnovers the home team kept adding to the difference. Colombia couldnt answer back and the Argentine secured the win and the qualification to the Semi-Finals. With 16 points and 6 rebounds, Melisa Gretter led the way for the Argentine win.

A semifinales el anfitrin! @cabboficial vence a @Fecolcesto y poncha as su boleto a la prxima fase.

https://t.co/C0uHc4wBFS pic.twitter.com/IcZQBX8u1c

Tomorrow on the last day of the FIBA Womens AmeriCup Group Phase the four Semi-Finals will be determined when Canada faces Paraguay, Mexico takes on Cuba, Venezuela faces Colombia and Argentina faces South American rivals Brazil.

The top-three teams from the FIBA Womens AmeriCup 2017 will qualify to the FIBA Womens Basketball World Cup 2018 in Spain.

FIBA

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Day 4: Virgin Islands upset Brazil, historic Puerto Rico, Argentina qualifies - FIBA

Genetic risk factors for autism may affect family size – Spectrum

Download PDF Age effect: Men and women at genetic risk for autism tend to become parents relatively late in life.

Ghislain & Marie David de Lossy / iStock

People who carry risk factors for autism but do not have the condition tend to have fewer children and have them later in life than do people at lower risk, according to a new study1.

The study of more than 90,000 people focuses on common genetic variants, which occur in at least 1 percent of the population. Certain combinations of these variants are thought to increase the risk of autism.

The study suggests that variants linked to autism also affect whether and when people have children. For instance, having variants that lead to social difficulties might make it hard to find a mate.

It is clear that the brain is an important reproductive organ, says lead researcher Kri Stefnsson, founder of deCODE Genetics in Iceland.

The findings,published 13 June in Nature Communications, may help to explain why autism is more prevalent among children who have older parents. Previous studies have suggested that sperm from older fathers is more prone to spontaneous mutations that boost autism risk. The new work supports another explanation: that people with common genetic variants tied to autism delay parenthood.

Delaying parenthood limits the number of children a person can have, decreasing his likelihood of transmitting his genes. This places the genetic variants linked to autism under negative selection a process that might eliminate those variants over the course of evolution.

However, the fact that autism traits remain in the population suggests other evolutionary forces may be at play.

This is a soundly done study and a careful analysis, says Matthew Keller, an evolutionary geneticist at University of Colorado Boulder, who was not involved in the study. I think within the next 10 years we are going to have a very good idea of what types of evolutionary forces were responsible for the genetic variation [in] these traits.

Most common variants do not increase the risk for autism, and those that do contribute only a modest risk. Stefnsson and his colleagues homed in on a set of variants seen more frequently in people with autism than in those without the condition. They identified these variants in the Psychiatric Genomics Consortium, an international database of whole-genome data from thousands of people with autism or other neurological conditions.

The researchers then looked for the same set of variants in the deCODE database, which contains whole-genome sequences from more than 150,000 Icelanders. They assigned each individual in the database a polygenic risk score for autism based on the variants he or she carries.

The researchers then focused on the genomes of more than 90,000 Icelanders age 45 or older who do not have an autism diagnosis. They found that individuals with relatively high polygenic risk scores but no autism diagnosis have slightly fewer children and have them later in life than people with lower scores.

People who carry these genetic variants might display some intermediate phenotype that might affect the number of children they have or [their] ability to have a partner, says Niamh Mullins, a graduate student in Cathryn Lewis lab at Kings College London, who collaborated with the deCODE team on the study.

The researchers also found that people who do not have autism but carry large deletions or duplications of DNA called copy number variations (CNVs) associated with the condition have fewer children than do those who lack these CNVs. The effect is strong enough to suggest that CNVs that confer a significant risk of autism are under greater negative selection than variants that affect a single DNA base.

Why genetic variants tied to autism have persisted in the general population is a topic of debate. They may have conferred certain advantages, says Anne Goriely, associate professor of human genetics at the University of Oxford in the United Kingdom, who was not involved in the study. For instance, the variants may help an individual focus on detail, which might result in survival benefits for her or her children.

It may also simply take time, perhaps thousands of years, for harmful genetic variants tied to autism to disappear from the population. The new findings support this notion, but only look at a snapshot in time the present when evolutionary forces may be quite different than they were in the past.

Over the next decade, as more whole-genome sequences become available, Keller says, researchers may develop statistical methods sophisticated enough to decipher the evolutionary forces that shaped the traits associated with autism.

See more here:

Genetic risk factors for autism may affect family size - Spectrum

Trump’s political antics push consumers’ health care costs higher – MSNBC


MSNBC
Trump's political antics push consumers' health care costs higher
MSNBC
At a press briefing a few weeks ago, White House Press Secretary Sarah Huckabee Sanders said there's all kinds of evidence that the Affordable Care Act is facing a collapse. To prove her point, Donald Trump's principal spokesperson told reporters, ...
Study says uncertain future of health care will spike premium costsChristian Science Monitor
Trump's 'mixed signals' on health care could lead to big premium increases, study findsThe Week Magazine
Uncertainty over Trump's health-care policies driving double-digit insurance price hikesCNBC

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Trump's political antics push consumers' health care costs higher - MSNBC

Trump steps up attacks on McConnell for failure on health-care reform – Washington Post

(Jenny Starrs/The Washington Post)

President Trump stepped up his criticism of Senate Majority Leader Mitch McConnell on Thursday for not muscling through a health-care bill, escalating an extraordinary fight with a key leader of his own party.

Can you believe that Mitch McConnell, who has screamed Repeal & Replace for 7 years, couldnt get it done, Trump wrote on Twitter. Must Repeal & Replace ObamaCare!

Trumps morning tweet was his second in 24 hours targeting McConnell for remarks the Kentucky Republican made earlier in the week suggesting that Trumps lack of political experience had led toexcessive expectations for passing major legislation.

[Trump takes issue with McConnells accusation that he had excessive expectations for Congress]

Trump has remained bitter about the failure of congressional Republicans to pass a bill overhauling the Affordable Care Act, a pledge the party has made since 2010 and a marquee campaign promise for Trump.

The sparring with McConnell was the latest sign of increasingly strained relations between Trump and Republicans in Congress, who have had few victories since January despite the GOPs control of the White House and both the House and Senate.

Since the collapse of a health-care bill, Trump has belittled GOP senators as looking like fools and suggested they change the chambers rules to make it easier to pass bills.

The presidents attacks on a leader popular among Senate Republicans comes as lawmakers are poised to try to tackle other shared but challenging priorities in the fall, including a tax overhaul. They also are faced with trying to craft a budget and raise the nations debt ceiling.

Discerning a particular strategy or goal from these tweets is hard, said Doug Heye, a Republican consultant and former Capitol Hill staffer. It just doesnt help enact any part of his agenda, and it sends a further troubling sign to Capitol Hill Republicans already wary of the White House.

Heye said that with Trumps job approval numbers declining among the Republican base, now is the time to build support within the party.

White House aides said Trump has a general frustration with McConnell that extends beyond the health-care debate.

You can see the presidents tweets, White House press secretary Sarah Huckabee Sanders told reporters Thursday. Obviously theres some frustration. I dont have anything more to add.

Barry Bennett, an adviser to Trump during last years campaign, said the president was speaking to a Republican Party that has become a firmly anti-Washington party.

It may not be a winning tactic, but its certainly a winning message, Bennett said.

McConnell, to this point, has been one of the most steadfast supporters of Trumps agenda in Congress, and at least publicly, Trump has enjoyed a smoother relationship with McConnell than House Speaker Paul D. Ryan (R-Wis.) and other GOP congressional leaders.

In April, McConnell orchestrated the confirmation of Trumps Supreme Court pick, Neil M. Gorsuch, changing the Senate rules so that Democrats could not block the nomination. The Gorsuch confirmation remains Trumps largest victory on Capitol Hill to date.

McConnells wife, Elaine Chao, another prominent Washington figure, also serves in Trumps Cabinet as transportation secretary.

In his remarks Monday to the Rotary Club of Florence, Ky., McConnell said, Our new president had of course not been in this line of work before. He added: I think he had excessive expectations about how quickly things happen in the democratic process.

[Can this marriage be saved? Relationship between Trump, Senate GOP hits new skids.]

McConnell said people think Congress is underperforming partly because artificial deadlines, unrelated to the reality of the complexity of legislating, may not have been fully understood.

Sanders confirmed that Trump and McConnell spoke by phone Wednesday, a conversation in which Trump made clear he wants to continue to press for passage of a health-care bill. The call was first reported by the New York Times.

The same day, while on a 17-day working vacation at his private golf club in Bedminster, N.J., Trump took his first shot at McConnell on Twitter.

Senator Mitch McConnell said I had excessive expectations, but I dont think so, the president wrote. After 7 years of hearing Repeal & Replace, why not done?

Earlier Wednesday, Dan Scavino Jr., the White House social media director, also went after McConnell on Twitter.

More excuses, wrote Scavino, an outspoken Trump loyalist. @SenateMajLdr must have needed another 4 years in addition to the 7 years to repeal and replace Obamacare.....

Sean Hannity, a Fox News host often sympathetic to Trump, also weighed in following McConnells remarks, writing on Twitter: @SenateMajLdr No Senator, YOU are a WEAK, SPINELESS leader who does not keep his word and you need to Retire!

In another sign of frayed relations between Trump and Republican senators, one of the presidents largest political benefactors is providing a $300,000 contribution to a super PAC that aims to unseat Sen. Jeff Flake (R-Ariz), who has been critical of the president.

Politico first reported that Robert Mercer, a hedge fund billionaire heavily involved in Trumps political ascendancy, is making a donation to a group supporting former Arizona state senator Kelli Ward, who is challenging Flake in a Republican primary next year.

Flake has been on a book tour promoting Conscience of a Conservative, in which he argues that the GOP is in denial about the Trump presidency.

Despite the public criticism, Trump and McConnell are in frequent contact, usually by telephone, to discuss legislative strategy, aides said. The last time they met in person was July 19, when Trump hosted Republican senators at the White House and implored them to continue working to repeal and replace the Affordable Care Act.

Privately, senior GOP congressional aides across Capitol Hill have said its Trump and his team not McConnell who deserve the blame for the collapse of the GOPs health-care plan. The aides gripe that Trump seriously damaged relationships with key Republican senators over the course of the months-long debacle.

Trump has singled out certain senators either via Twitter or by placing them next to him during staged White House meetings to make it look like hes squeezing them a visual that often leads to awkward still photos of the senators facial reactions.

At one point this summer, Trump was flanked at a White House meeting by Sens. Susan Collins (R-Maine) and Lisa Murkowski (R-Alaska), who both voted against the health-care measure. At the mid-July meeting, it was Sen. Dean Heller (R-Nev.) seated next to Trump. The president called him out with cameras rolling for wavering on the health-care bill.

Look, he wants to remain a senator, doesnt he? Trump said as Heller laughed uncomfortably.

Heller ultimately voted for the bill, but the exchange with Trump is a scene that Democratic aides have vowed will appear prominently in future campaign attack ads against the senator, who is the most vulnerable GOP incumbent facing reelection next year.

Trumps long-standing feud with Sen. John McCain (R-Ariz.) hasnt helped the overall dynamic either. The senator voted against the health-care plan in a closely-watched late night vote even after Trump made a direct last-minute appeal by phone.

The pair have been at loggerheads on several occasions since Trump two years ago criticized the senator for being captured during the Vietnam War and refused to apologize despite a national outcry.

In addition to criticizing Trump and McConnell for the contours of the health-care debate, McCain this week has blasted the presidents comments on North Koreas nuclear ambitions in interviews with Arizona radio stations.

On Thursday, he also released legislation that would implement a new military strategy in Afghanistan a proposed amendment to the annual defense policy bill that McCain said he unveiled in the absence of a new coherent strategy from Trump.

Sen. Ron Johnson (R-Wis.), who has had a contentious relationship with McConnell, said Thursday that he was sympathetic to Trump in the wake of the health-care bills failure.

President Trump is at his desk with a pen ready to sign what Congress was going to send him and we didnt, Johnson said during an interview on CNN. And I completely feel his frustration. Im every bit as frustrated.

Asked whether he thought taking aim at McConnell on Twitter was the right tactic, Johnson demurred.

Ill let this president speak for himself and his tactics, he said.

Trumps social media firestorm marks his first concerted attacks against McConnell. Throughout the 2016 campaign, while other GOP lawmakers wavered in their support of the GOP nominee, McConnell never did. He criticized some of Trumps more outlandish statements, but it was usually muted compared with other Republicans, and McConnell preferred to deliver his critiques in private.

So when Trump lashed out at fellow Republicans, it was directed mostly at Ryan and McCain, who frequently criticized Trump in public. Trump even threatened to support primary opponents running against Ryan and McCain last year.

Behind the scenes during the campaign, McConnell served almost as a tutor to Trump on the key issue of handling the Supreme Court vacancy after the February 2016 death of Justice Antonin Scalia.

At McConnells urging, Trump released lists of more than 20 potential nominees, names that were culled by Trumps advisers from discussions with the Federalist Society, the conservative group focused on judicial matters that is close to McConnell.

Trumps handling of the court vacancy helped rally evangelical conservatives to his side, a key factor in his narrow victory last fall over Democrat Hillary Clinton.

However, inside the White House, Trump has a collection of advisers who have had antagonistic relationships with McConnell and Senate GOP leadership.

Stephen K. Bannon, Trumps chief strategist, came from Breitbart, where his news organization regularly antagonized McConnells leadership team. Stephen Miller, chief policy adviser to Trump, was not considered an ally to the Senate leaders staff when Miller was a top adviser to Jeff Sessions in the Senate.

Moreover, one of Trumps top legislative affairs advisers is Paul Teller, who served as Sen. Ted Cruzs top aide during a period when the Texas Republican accused McConnell of lying about trade legislation.

And Mick Mulvaney, Trumps budget director, was a constant critic of the Senate during his three terms in the House, regularly opposing fiscal compromise deals that McConnell brokered with the Obama White House.

Phil Rucker and Kelsey Snell contributed to this report.

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Trump steps up attacks on McConnell for failure on health-care reform - Washington Post

Employers to spend about $10000 on health care for each worker – CNBC

Source: National Business Group on Health

Marcotte said that the cost can vary depending on where the treatment is administered (i.e., a hospital or doctor's office or even in the home). The survey shows that 44 percent of companies plan to combat pharma costs in part by better managing where patients receive those high-price medicines.

Employers also increasingly have been offer high-deductible plans as a way to control costs. The study shows that by next year, 90 percent of large companies will offer this option.

Under these plans sometimes called consumer-driven health plans in industry lingo employees can put away tax-deductible savings in a health savings account, or HSA. For 2017, contribution limits are $3,400 for individual coverage and $6,750 for family plans. An extra $1,000 is allowed for people age 55 or older.

HSA balances can carry over from year to year, and withdrawals are tax-free as long as they go toward qualified medical expenses.

The survey also says that without such various cost-cutting measures being implemented by employers, overall costs would increase by 6.6 percent next year instead of the anticipated 5 percent.

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Employers to spend about $10000 on health care for each worker - CNBC

Government, Healthcare Most Important Problems in US – Gallup

Story Highlights

WASHINGTON, D.C. -- Americans cited the U.S. government itself as the most important problem facing the U.S. this month (20%). This is down five percentage points from June, but still elevated amid the tension between the Trump White House and Congress.

What do you think is the most important problem facing this country today? [open ended]

Issues mentioned by 4% or more of respondents

The "government" category of responses includes many mentions of President Donald Trump, specifically, as the country's top problem, as well the Democratic Party, government gridlock and politics in general.

These findings are from an Aug. 2-6 Gallup poll.

Mentions of racism/race relations as the most important problem were at 7% this month, up from 4% in July. Yet mentions about the economy continued to drop, at only 6% in August. Immigration, a contentious issue throughout the presidential campaign and into the Trump presidency, held at 7%.

Before the latest escalation in souring relations between the U.S. and North Korea on Tuesday, 4% of Americans named North Korea as the most important problem. The war of words between Trump and North Korea's leader Kim Jong Un has been ratcheting up with North Korea recently declaring it has the capability to attack the U.S. and threatening to attack U.S. military installations on Guam. Trump on Tuesday warned the nation that these threats could be met with U.S. "fire and fury."

Government as the most important problem may be down from June, but mentions of it are still higher than was true for much of 2016. The highest percent mentioning government in the past five years was in October 2013 during the partial shutdown of the federal government. Factors that may have an impact on this choice include the Senate failing to pass a bill to repeal and replace the Affordable Care Act (ACA) and Congress passing sanctions against Russia over meddling in the 2016 presidential election.

Democrats (27%) are more likely than Republicans (15%) to say the government is the nation's top problem, however both figures are down slightly from 31% and 24% in June, respectively.

Healthcare Remains Significant Problem in Past Month

Seventeen percent of Americans this month identify healthcare as the most important problem, essentially unchanged from 16% last month. With the Republican ACA replacement plan dead, at least for the moment, along with reports of healthcare premiums rising, it is clear that healthcare remains on Americans' minds.

Mentions of healthcare have been generally higher in the past four months than at the start of Trump's term, except for a dip to 7% in June. That temporary drop occurred in the time between the House passing an ACA repeal bill and the beginning of Senate work on repeal legislation.

Republicans and Democrats are nearly tied in their citation of healthcare being the most important problem, with 21% of the GOP mentioning it and 19% of Democrats.

Bottom Line

So far this year, the U.S. government has consistently been top of mind when Americans are asked to name the most important problem in the U.S. The economy in general, which was the dominant concern during the Great Recession and its aftermath, remains far lower ranked today.

Healthcare may recede as a top problem if it falls out of the news because of Congress' reluctance to continue with Obamacare repeal legislation in the near term. On the other hand, if rising premiums continue, and the doomsday scenarios Trump is predicting come to pass, healthcare could remain as a most important problem. With discussions about tax reform looming on the congressional agenda, taxes, now at 2%, may rise as a most important problem in the next month or two. Military action with North Korea, or an intensification of words with the U.S., may vault that situation higher as well.

Advanced Analytics Predict business outcomes and build a data-driven culture to shape your company's future.

Results for this Gallup poll are based on telephone interviews conducted Aug. 2-6, 2017, with a random sample of 1,017 adults, aged 18 and older, living in all 50 U.S. states and the District of Columbia. For results based on the total sample of national adults, the margin of sampling error is 4 percentage points at the 95% confidence level. All reported margins of sampling error include computed design effects for weighting.

Each sample of national adults includes a minimum quota of 70% cellphone respondents and 30% landline respondents, with additional minimum quotas by time zone within region. Landline and cellular telephone numbers are selected using random-digit-dial methods.

View survey methodology, complete question responses and trends.

Learn more about how the Gallup Poll Social Series works.

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Government, Healthcare Most Important Problems in US - Gallup

Medical Society of Delaware Tests Blockchain to Improve Healthcare Access – CoinDesk

A medical organization in the U.S.that datesback hundreds of yearsis embarking on a blockchain pilot.

The Medical Society of Delaware,first formed in 1776, has revealed it willbuild a proof-of-concept focusing on the pre-authorization process for care providers and medical insurers. By improving the efficiency of that step, the society said it hopes care can be delivered more quickly.

As a further benefit, the trial will also create a chain of patient records that can be accessed by insurers and medical care providers.

Partnering on theproject ishealthcare tech startup Medscient, which itself leverages technology developed by blockchain-focused startup Symbiont.

Andrew Dahlke, vice president of the Medical Society of Delaware, said in a statement:

"We are confident that this proof-of-concept will not only address this particular pain point, but will lay the groundwork for streamlining other healthcare administrative issues as well."

Those involved with the project are due to make a presentation at theMedicaid Enterprise Systems Conference, to be held later this month in Baltimore,Maryland.

The newscomes shortly after Delaware became the first U.S. state to pass a law allowing the use of blockchain to create and store business records, including stock ledgers an effort that wasfirst unveiledin 2016.

Medical files image via Shutterstock

The leader in blockchain news, CoinDesk is an independent media outlet that strives for the highest journalistic standards and abides by a strict set of editorial policies. Have breaking news or a story tip to send to our journalists? Contact us at [emailprotected].

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Medical Society of Delaware Tests Blockchain to Improve Healthcare Access - CoinDesk

Letters: Don’t oversimplify health care – The Advocate

In his Aug. 4 letter to The Advocate, Stanford Bardwell makes quite clear his opinion we should each mostly look after our own health care and pay for what we can afford, supplementing personal savings with major-medical insurance for catastrophes. This concept worked fairly well for a brief period in our history. People with low-paying or no jobs may have lacked adequate care because they couldnt afford it, but that is still the case for many today.

Here are just two of the many reasons a return to such a system would not work today:

1. Medical inflation. I suggest anybody who has been to the doctor, had lab tests, taken prescription drugs or received medical care for any number of conditions take out the bills and look at the totals stated. For the sake of argument, lets assume the charges bear some semblance to the actual cost of the services. Do you honestly believe most people could easily pay these bills, in full, from savings or any other liquid assets?

Kudos to Lloyd Ray for his letter of July 24 on solving the health care debate in Congress.

2. Changes in services ordered. Go to a doctor for something he or she cannot immediately treat. Note the number of expensive tests, specialist referrals and ancillary treatments physicians now order. This was not always the case not by a long shot, and not least because many of these options simply did not exist. Do you believe all these extras are essential? Do you believe most people could afford to pay to pay for these, even if the costs were more reasonable? At what level should major-medical insurance kick in?

Bardwell is a well-respected and successful person. His letter reflects a disturbing lack compassion for those less privileged. Comparing easy health care access to opioid addiction is appalling. Attacking Hillary and the last administration with unfounded conspiratorial allegations about the ACA is ridiculous. The ACA was a compromise neither Clinton nor Obama would have proposed.

Our current health care system is expensive, irrational, inefficient, ineffective and inequitable. The ACA provides for more coverage, but it does little to address any of these issues. Mr. Bardwell presents a simple solution, but as Einstein is credited with saying, Things should be made as simple as possible, but no simpler. Mr. Bardwells letter does not meet that test.

We live in neither a third-world nor a let them eat cake country, and we should all hope we never do.

Stephen Winham

retired state budget director

St. Francisville

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Letters: Don't oversimplify health care - The Advocate

Letter: Profits should not drive health care – Auburn Citizen

I am a father, husband and board-certified clinical psychiatrist at St. Josephs Hospital in Syracuse and medical director of CPEP (Comprehensive Psychiatric Emergency Program).

I strongly believe health care is a right for all. It should be available without a cost burden as a healthy person is a productive person. Also, health care is not a commodity like an iPhone but essential to our wellness as a society. Yet the United States is the only industrialized country where health care is a commodity where people make profits on the back of sickness. Health care coverage for millions of Americans continues to be up in the air with little focus on long term solutions, as seen in "Bipartisan experts urge next steps on health care push" (auburnpub.com, 8/7/2017).

The president and many Republicans continue their obsession with getting rid of Affordable Care Act (ACA) despite polling and activism that shows the public prefer improving and expanding coverage. All parties seem to agree that the ACA in its current form is not affordable for many businesses and individuals. I continue to see working class people at my clinical practice who are suffering under this system. Often their employers cannot afford these health care costs. Medications are unaffordable and appointments are skipped. Emergency room care drives expenses up. Meanwhile, health insurance CEO salaries continue in the millions on the backs of those who are helping society.

We need to follow the most efficient model for administering healthcare: improved, expanded Medicare for all. Traditional Medicare has 2-percent administrative costs, as compared to private insurance company which can be as high as 12 percent and are profit oriented. Profits should not be the driving force to health care. It allows disparity of care and brings immeasurable hardship to the needy. Senators like Kirsten Gillibrand and others are supporting Medicare for all. There are 116 co-sponsors for the bill in the U.S. House of Representatives. In New York, we are one state senator away from passing the New York Health Act, which would also provide universal coverage using the improved Medicare model. State Sen. Valesky is a co-sponsor, along with 30 other senators, and deserves praise. Our businesses and our patients demand that we cover everyone without wasting money. Let U.S. Rep. John Katko and state Sens. John DeFrancisco, Patty Richie and Pam Helming know they need to act now to support improved and expanded Medicare.

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Letter: Profits should not drive health care - Auburn Citizen

UVA School of Medicine Using Grant to Research Rare Genetic Disorder – NBC 29 News

CHARLOTTESVILLE, Va. (WVIR) -

The University of Virginia School of Medicine is using a $50,000 donation to further research for an unnamed, rare genetic disorder.The money comes from the Bow Foundation which works to help people affected by the disease.

Right now the disease is fairly new; it was only discovered in the past year and has only 50 known patients.The disorder has mainly been targeting children, and can cause seizures, severe development delays, and movement disorders.

"By making the cells that we're making from the first patients, we'll then be able to compare those cells with other researchers and really broaden the research in this field. In a way that wouldn't be possible without this initial funding, Mike McConnell, UVA professor and researcher, said.

The school says they still know very little about this disease, but the funding is a step in the right direction.

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UVA School of Medicine Using Grant to Research Rare Genetic Disorder - NBC 29 News

Researchers link genes and motor skills development – Medical Xpress

August 10, 2017 Topography of the primary motor cortex, on an outline drawing of the human brain. Different body parts are represented by distinct areas, lined up along a fold called the central sulcus. Credit: public domain

Genes for many may be widely associated with determining certain traits and characteristics. Now a study co-led by John H. Martin of The CUNY School of Medicine at The City College of New York is demonstrating that they could also influence neural motor skills. This could lead to new insights in the treatment of motor skills impairments such as Cerebral Palsy.

Martin and his collaborators from Cincinnati Children's Hospital Medical Center, Yutaka Yoshida and Zirong Gu, found that the lost function of two genes prevent infant laboratory mice from developing motor skills as they mature into adults. The cause is neural circuits between the brain's motor cortex region and the spinal cord that did not properly reorganize in mice as they matured. These circuits are part of the cortical spinal network, which coordinates the activation of muscles in limbs.

The mice were bred to lack molecular signaling from the Bax/Bak genetic pathway. Through a variety of experiments, the researchers demonstrated how Bax/Bak's downstream molecular targets are vital to developing appropriately sophisticated connections between the motor cortex, spinal circuits and opposing extensor/flexor muscle groups in the animals.

"If mutations in the Bax/Bak pathway are found in human patients with developmental motor disabilities, these findings could be very translational and lead to possible medical applications," said Yoshida, Martin's co-lead author.

Martin said it is believed that neuronal activity and movement experiences regulate the formation and function of motor circuits as an animal or person matures. "We show that the Bax/Bak pathway is important for this process. This finding may help us better understand the underlying biological mechanisms of motor development," noted.

The team's goal is for future studies to determine whether disruptions in Bax/Bak pathway are implicated in some people with skilled motor disabilities and whether it also regulates reorganization of other circuits in the mammalian central nervous system.

The study was published in the journal Neuron.

Explore further: Study suggests genetic reason for impaired skilled movements

Journal reference: Neuron

Provided by: City College of New York

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Researchers link genes and motor skills development - Medical Xpress

Fearing stigmatization, patient’s father seeks retraction of paper on rare genetic mutation – Retraction Watch (blog)

The father of a boy with a rare genetic mutation has accused a scientist of exploiting his child by proclaiming the defect a genetic syndrome and naming it after herself.

At an impasse with scientists investigating, publicizing, and interpreting his sons condition, the father seems willing to use any leverage he can muster to remove the syndrome entry in an online genetic disease database. Based solely on an email he obtained from the database director, the father became convinced that if the paper underpinning the entry were retracted, the syndrome would go down with it. So earlier this year, he withdrew his consent and asked the journal that published the paper for a retraction, based on improper patient consent. He has also threatened to lob accusations of research misconduct at the papers last author.

Marc Pieterse, of The Netherlands, is the father of Vincent, a teenager who has a mutation in the RPS23 gene that has only been found in one other person, so far. In March, an international team of researchers published a paper on Vincents RPS23 mutation in the American Journal of Human Genetics (AJHG), linking it to defective ribosomes, organelles involved in protein synthesis.

One of the scientists Pieterse engaged several years ago is Alyson MacInnes, a rare disease researcher at the University of Amsterdams Academic Medical Center. She is last author of the AJHG paper and the person whose name is now connected to an entry in the Online Mendelian Inheritance in Man (OMIM) database. MacInnes told Retraction Watch that, contrary to what Pieterse claims, she played no direct role in naming the syndrome; OMIM confirmed this account.

The OMIM entry for MacInnes Syndrome, which links the RPS23 mutation with a collection of features that resemble Vincents hearing loss, issues with the hands was created on March 29, weeks after the paper was published. Pieterse said he was shocked when he found it in April as he was browsing the database.

Pieterse told us he feels used and fears that the designation will stigmatize his sons mutation. A syndrome is a disease, he said. Now, he wants the database entry either changed he prefers the umbrella term ribosomopathy, which is used in the paper or taken down.

Believing MacInnes submitted Vincents condition for consideration, Pieterse demanded she find a way to remove it. When she didnt respond, he went directly to AJHG and OMIM to get the paper and syndrome entry removed.

So far, nothing has worked.

A campaign begins

The Pieterses found out about Vincents mutation after a long diagnostic odyssey that ultimately resorted to sequencing all the protein-coding regions of Vincents genome. In 2015, the Journal of the American Medical Association published a news feature on Vincents diagnosis, saying it heralded a new era of clinical genomics.

Marc is a former telecommunications engineer and entrepreneur who has shifted his focus to raising his four children. He told Retraction Watch that although hes not a scientist, in the years since receiving Vincents diagnosis he has committed himself to advocating for further study of the mutation and has even co-authored a paper on RPS23. Marc claims he played a role in connecting MacInnes, Baserga, and several other European scientists, who eventually published the AJHG paper together.

When Pieterse found the OMIM entry for MacInnes syndrome, he believed that MacInnes had created it to boost her career. He told us that after he found it, he tried asking her to take it down. However, their relationship had at that point already suffered a communication breakdown and he didnt hear back. This further upset him and he began a campaign to bring down the entry by any means possible.

But MacInnes told us she had nothing to do with either the OMIM entrys creation or its naming:

I did not submit this paper to OMIM or in any way initiate this entry as a syndrome. This was independently picked up by OMIM and registered as such; apparently such registrations are made upon their decision only.

OMIM director Ada Hamosh confirmed this to Retraction Watch:

Dr. Macinnes did not ask for this to be named after herself and did not bring it to our attention.

We are dealing with this gene-phenotype relationship exactly as we would any other. We did this because this is what we do.

Hamosh, a geneticist at Johns Hopkins University, told us that the term syndrome is for a constellation of features and that the naming was done in accordance with policies that have long been in place at OMIM:

Sometimes something has too many features to be described succinctly. In that case, the default way to name something is to use the first authors last name and last authors last name.

Indeed, Hamosh told us that at first the syndrome was called Paolini-MacInnes syndrome, after first author Nahuel Paolini, of the University of Amsterdam. However, Hamosh said OMIM later realized there were four co-first authors. OMIM never adds more than three names to a syndrome, so Hamosh simply named it after MacInnes:

Given how little we know about it, it makes more sense to name it eponymously than after some features I cant put my hands on, especially since we have a policy on not ever naming something after a gene.

Its stigmatizing

Part of Pieterses issue with dubbing the condition a new syndrome is the early and ongoing nature of RPS23 research, and he isnt alone. In an email to Hamosh, MacInnes co-author Susan Baserga, a professor at the Yale School of Medicine, said:

I was very surprised that you are so pressed to name the phenotype as a new syndrome, especially since the clinical findings are so non-specific. I find this very odd indeed, and worry that it muddles the medical and genetic literature instead of providing clarity. This is so new that I am not even sure that it is a syndrome, and worry that it is presumptuous at best and wrong at worst.

Baserga, who did not respond to our requests for comment, also suggested that OMIM simply call the condition a ribosomopathy, as the AJHG paper does. But Hamosh told Retraction Watch:

We never, ever, ever, name a disease after a gene.

Gene symbols are not stable. More fundamentally, many, many, many genes have more than one condition associated with them. It is not a good idea to put a gene name into a disease name. Thats why we wont call it RPS23 ribosomopathy. Its not personal, we wont do this for any gene.

Pieterse told us that neither Hamosh, nor anybody else from OMIM, has ever informed him that OMIM itself created the entry and that MacInnes Syndrome is the result of standard naming procedures.

Like MacInnes, Hamosh wont respond to his attempt at contact. But Pieterse has obtained an email chain, from late April, between those two scientists, as well as Baserga. In it, Hamosh wrote:

Are you planning to retract or correct the paper to indicate the apparent uncertainty regarding its conclusions? If so, we will remove the phenotype and reclassify the variants.

Niether MacInnes nor Baserga thought a retraction was necessary, but this exchange convinced Pieterse that a retraction would force OMIM to remove the entry. So he wrote MacInnes to inform her he was withdrawing his parental consent and asked AJHG to retract the paper. Pieterse told Retraction Watch that the consent form he submitted to the University of Freiburgs medical center, in Germany (cells used in the study were created there) was very broad and that he believed it would allow him get the paper pulled.

Readers may recall some of the cases weve covered in which patient consent issues have led to papers being retracted. Pieterses situation most closely resembles a story we covered in 2015, where the authors requested a retraction from the Journal of Medical Case Reports after a legal guardian withdrew permission after publication.

But his attempt to trigger retraction didnt work. AJHG editor David Nelson, of the Baylor College of Medicine, told Pieterse the journal had looked into the situation but found nothing improper. According to an email shared by Pieterse, Nelson wrote:

Because there was no reason to retract the article due to misrepresentation of scientific content, we investigated the issues around withdrawal of patient consent. We have been in communication with the [University of Amsterdam Academic Medical Center] Biobank Committee and Medical Ethics Committee and they have confirmed that withdrawal from the study is not relevant to the article and data that have been published already.

Given the serious implications of a retraction on the journal, the authors of the article, and the scientific record, we have therefore decided that the American Journal of Human Genetics will not retract the article.

In an email to Retraction Watch, Nelson expanded on what he told Pieterse:

Our understanding from the authors and their institutions who obtained and approved consent for this study is that it is possible for research subjects to withdraw their consent at any time and that samples and information should be destroyed upon withdrawal. However, published scientific articles deriving from the studies are not subject to the consent withdrawal and this was confirmed by individuals familiar with European Union Regulations relating to personal data.

Pieterse told us that knows a retraction would be counterproductive to his long-term goal, which is to see the research around Vincents mutation grow. But he still wants to see the OMIM entry come down:

At a certain moment, people are going to cite OMIM in genetics papers and its going to spread. If you want to correct something, you should correct it fast. Once the internet is soaked, you cannot do that.

Like Retraction Watch? Consider making atax-deductible contribution to support our growth. You can also follow uson Twitter, like uson Facebook, add us to yourRSS reader, sign up on ourhomepagefor an email every time theres a new post, or subscribe to ourdaily digest. Clickhere to review our Comments Policy. For a sneak peek at what were working on,click here.

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Fearing stigmatization, patient's father seeks retraction of paper on rare genetic mutation - Retraction Watch (blog)

How prostate cancer genetics will change front-line care – ModernMedicine

What percentage of prostate cancer cases are caused by genetics?

Most cases of prostate cancer are caused by genetic alterations. The problem is that when you break it down to very specific, identifiable, inherited prostate cancer risk genes, we have very few at the present time. All tumors are driven by genetics, but when you look at specific inherited risk, our current level of understanding is that about 10% to 15% of patients can have a clearly identifiable inherited component to their prostate cancer.

This is a very active area of research. Please talk about whats new and exciting in the world of prostate cancer genetics.

The completion of the Human Genome Project in 2003 opened the door for not only basic science advances but drove the clinical applications of genomic and genetics. Urologists have recently become very familiar with the genomics of prostate tumors studying somatic mutations to help guide treatment decisions. The area we are now becoming interested in is known as germline testing or the study of inherited genetics. Weve been able to identify more and more inherited genetic alterations in medicine. The traditional ones that we have the most familiarity with are the BRCA1 and BRCA2 abnormalities associated with hereditary breast and ovarian cancer. But it turns out that a significant number of men can also have BRCA1 or BRCA2 genetic alterations that can confer an increased risk of prostate cancer.

Also see: Higher reclassification rate seen with saturation biopsy

Several newer genes such as HOXB13 and ATM have also been identified as being associated with prostate cancer. Importantly, were recognizing that not only can prostate cancer run in families but it also can be related to breast cancer, ovarian cancer, pancreatic cancer, melanoma, and Lynch syndrome in other family members. This area of research is giving us some direction on how urologists can think about approaching our patients concerning the need for more detailed family histories.

Lastly, genetic panels are now being offered by commercial laboratories specifically for prostate cancer. Urologists need to be aware that these panels are out there, and the best way to utilize these genetic testing panels is something were all going to have to learn in the coming years.

Originally posted here:

How prostate cancer genetics will change front-line care - ModernMedicine

When genetic engineering is the environmentally friendly choice – GreenBiz

This article originally ran on Ensia.

Which is more disruptive to a plant: genetic engineering or conventional breeding?

It often surprises people to learn that GE commonly causes less disruption to plants than conventional techniques of breeding. But equally profound is the realization that the latest GE techniques, coupled with a rapidly expanding ability to analyze massive amounts of genetic material, allow us to make super-modest changes in crop plant genes that will enable farmers to produce more food with fewer adverse environmental impacts. Such super-modest changes are possible with CRISPR-based genome editing, a powerful set of new genetic tools that is leading a revolution in biology.

My interest in GE crops stems from my desire to provide more effective and sustainable plant disease control for farmers worldwide. Diseases often destroy 10 to 15 percent of potential crop production, resulting in global losses of billions of dollars annually. The risk of disease-related losses provides an incentive to farmers to use disease-control products such as pesticides.

One of my strongest areas of expertise is in the use of pesticides for disease control. Pesticides certainly can be useful in farming systems worldwide, but they have significant downsides from a sustainability perspective. Used improperly, they can contaminate foods. They can pose a risk to farm workers. And they must be manufactured, shipped and applied all processes with a measurable environmental footprint. Therefore, I am always seeking to reduce pesticide use by offering farmers more sustainable approaches to disease management.

It often surprises people to learn that GE commonly causes less disruption to plants than conventional techniques of breeding.

What follows are examples of how minimal GE changes can be applied to make farming more environmentally friendly by protecting crops from disease. They represent just a small sampling of the broad landscape of opportunities for enhancing food security and agricultural sustainability that innovations in molecular biology offer today.

Genetically altering crops the way these examples demonstrate creates no cause for concern for plants or people. Mutations occur naturally every time a plant makes a seed; in fact, they are the very foundation of evolution. All of the food we eat has all kinds of mutations, and eating plants with mutations does not cause mutations in us.

A striking example of how a tiny genetic change can make a big difference to plant health is the strategy of "knocking out" a plant gene that microorganisms can benefit from. Invading microorganisms sometimes hijack certain plant molecules to help themselves infect the plant. A gene that produces such a plant molecule is known as a susceptibility gene.

We can use CRISPR-based genome editing to create a "targeted mutation" in a susceptibility gene. A change of as little as a single nucleotide in the plants genetic material the smallest genetic change possible can confer disease resistance in a way that is absolutely indistinguishable from natural mutations that can happen spontaneously. Yet if the target gene and mutation site are carefully selected, a one-nucleotide mutation may be enough to achieve an important outcome.

A substantial body of research shows proof-of-concept that a knockout of a susceptibility gene can increase resistance in plants to a wide variety of disease-causing microorganisms. An example that caught my attention pertained to powdery mildew of wheat, because fungicides (pesticides that control fungi) are commonly used against this disease. While this particular genetic knockout is not yet commercialized, I personally would rather eat wheat products from varieties that control disease through genetics than from crops treated with fungicides.

Plant viruses are often difficult to control in susceptible crop varieties. Conventional breeding can help make plants resistant to viruses, but sometimes it is not successful.

Early approaches to engineering virus resistance in plants involved inserting a gene from the virus into the plants genetic material. For example, plant-infecting viruses are surrounded by a protective layer of protein, called the "coat protein." The gene for the coat protein of a virus called papaya ring spot virus was inserted into papaya. Through a process called RNAi, this empowers the plant to inactivate the virus when it invades. GE papaya has been a spectacular success, in large part saving the Hawaiian papaya industry.

Mutations occur naturally every time a plant makes a seed; in fact, they are the very foundation of evolution.

Through time, researchers discovered that even just a very small fragment from one viral gene can stimulate RNAi-based resistance if precisely placed within a specific location in the plants DNA. Even better, they found we can "stack" resistance genes engineered with extremely modest changes in order to create a plant highly resistant to multiple viruses. This is important because, in the field, crops are often exposed to infection by several viruses.

Does eating this tiny bit of a viral gene sequence concern me? Absolutely not, for many reasons, including:

Microorganisms often can overcome plants biochemical defenses by producing molecules called effectors that interfere with those defenses. Plants respond by evolving proteins to recognize and disable these effector molecules. These recognition proteins are called "R" proteins ("R" standing for "resistance"). Their job is to recognize the invading effector molecule and trigger additional defenses. A third interesting approach, then, to help plants resist an invading microorganism is to engineer an R protein so that it recognizes effector molecules other than the one it evolved to detect. We can then use CRISPR to supply a plant with the very small amount of DNA needed to empower it to make this protein.

This approach, like susceptibility knockouts, is quite feasible, based on published research. Commercial implementation will require some willing private- or public-sector entity to do the development work and to face the very substantial and costly challenges of the regulatory process.

The three examples here show that extremely modest engineered changes in plant genetics can result in very important benefits. All three examples involve engineered changes that trigger the natural defenses of the plant. No novel defense mechanisms were introduced in these research projects, a fact that may appeal to some consumers. The wise use of the advanced GE methods illustrated here, as well as others described elsewhere, has the potential to increase the sustainability of our food production systems, particularly given the well-established safety of GE crops and their products for consumption.

View post:

When genetic engineering is the environmentally friendly choice - GreenBiz

It’s Time to Stop Asking Whether Human Genetic Engineering Should Happen and Start Planning to Manage it Safely – HuffPost

The DNA of early human embryos carrying a sequence leading to hypertrophic cardiomyopathya potentially deadly heart defecthas been edited to ensure they would carry a healthy DNA sequence if brought to term. The Nature paper announcing this has reenergized a terrific national and international debate over whether permanent changes in DNA that can be passed from one generation to another should be made. Bioethicists are asking, Should we genetically engineer children? while some potential parents are almost certainly asking, When will this technique be available?

The Should questions bioethicists are asking are probably not relevant. The only question whose answer ultimately matters is: Can techniques like CRISP-R be used to genetically engineer children safely? Because a variety of forces guarantee that if they can be, they will be.

The key questions reliable practitioners must answer are: Can we prove it works? Then: Can it be used safely?. If yes on these questions, then we will see: Who is marketing this technique to potential parents? Finally, we will learn: Where was it done, who did it, and who paid for its use?

We are closer than ever before to using CRISP-R to replace dangerous DNA sequences with those that wont keep a baby from being healthy. Fortunately, this Nature paper leaves many questions Unanswered because the embryos were not allowed to come to term.

Most importantly, we still dont know Could the embryos have developed into viable babies? Just as in 2015 when researchers at Sun Yat-Sen University in China didnt implant engineered embryos into a womans womb, the scientists who published in Nature recently didnt feel ready (and didnt have permission) to try this potentially enormous step. As experiments proceed, this question will, at some point, be answered.

It will be answered because there is an enormous, proven market for techniques that can be used to ensure that a baby will be born without DNA sequences that can lead to genetically-mediated conditions; many of which are devastating as we have been tragically reminded of late.

Under the best circumstances, in-vitro fertilization leads to a live birth less than half of the time. As a result, whoever tries to see if an embryo that has had targeted DNA repaired using CRISP-R will doubtless prepare a lot of embryos for implanting in quite a few women. When those women are asked to carry these embryos to term we will not know about it. We will probably not find out if none of the embryos come to term successfully.

We *will* know about this procedure if even one baby comes to term and is born with the targeted genetic sequence corrected as intended. Until now, (and maybe even with our new knowledge), any baby brought to term after CRISP-R was used to edit and replace unhealthy DNA would have almost certainly had other DNA damaged in the editing process. This near-certainty and other concerns have held people back from trying to genetically engineer an embryo that they would then bring to term. They could not, until recently, have confidence that only the sequence being targeted has been affected. With this new Nature report, this, at least, is changing.

The results of these newly reported experiments are many steps closer to usability than the Chinese experiments reported in 2015. This is the nature of scientific experimentation, particularly when there is demand for the capability or knowledge being developed.

People try something. It either works or it doesnt. Sometimes when it doesnt work, we learn enough to adjust and try again. If it does work, it often doesnt function exactly the way we expected. Either way, people keep trying until either the technique is perfected or it ultimately proves to be unusable.

This Nature paper is an example of trying something and doing a better job than the first attempt. It does not represent a provably safe and reliable technique . Yet. If market driven research works as it often does, people will work hard to publish data (hopefully from reliable experimental work) suggesting they have a safe and effective technique. Doing so will let them tell some desperate set of wealthy prospective parents: We should be able to use this technique with an acceptable chance of giving you a healthy baby.

Princetons Lee Silver predicted parents desire for gene editing in his Remaking Eden, a book published in 1997. He argued this because people fear sickness or disability and feel strong personal, economic and social pressures to have healthy, beautiful children who should become healthy attractive adults.

People already spend a great deal on molecular techniques like pre-implantation genetic diagnosis (PGD). PGD is regularly used to reduce couples risk of having babies with known (or potential), chromosomal abnormalities and/or single gene mutations that can lead to thousands of DNA-mediated conditions.

As I showed in my Genetics dissertation published from Yale in 2004, different countries respond differently to controversial science like this. Similarly, different individuals responses are equally diverse. One poll indicates nearly half of Americans would use gene editing technology to prevent possible DNA-mediated conditions in their children. Policy makers who object to the technology therefore have a problem: if they succeed in blocking it somewhere, research and real world experience indicate other governments may well permit its use. If this happens, these techniques will be available to anyone wealthy and desperate enough to find providers with the marketingand hopefully scientificskill needed to sell people on trying them.

This gene editing controversy is a reminder that we are losing the capacity to effectively ask, Should we? As our knowledge of science grows, becomes more globalized, and is increasingly easy to acquire for people with different morals, needs and wants, we must soon be ready to ask, Can we? and ultimately, Will someone? Their answers will give us the best chance to ensure any babies that may come from any technique described as genetic engineering are born healthy, happy, and able to thrive.

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Link:

It's Time to Stop Asking Whether Human Genetic Engineering Should Happen and Start Planning to Manage it Safely - HuffPost

Gene Editing Might Mean My Brother Would’ve Never Existed – TIME

CRISPR-CAS9 gene editing complex from Streptococcus pyogenes.Molekuul/Science Photo Library/Getty Images

Reynolds, Ph.D., is Rice Family Postdoctoral Fellow in Bioethics and the Humanities at The Hastings Center.

On August 2nd, scientists achieved a milestone on the path to human genetic engineering. For the first time in the United States, scientists successfully edited the genes of a human embryo . A transpacific team of researchers used CRISPR-Cas9 to correct a mutation that leads to an often devastating heart condition. Responses to this feat followed well-trodden trails. Hype over designer babies. Hope over new tools to cure and curb disease. Some spin, some substance and a good dose of science-speak. But for me, this breakthrough is not just about science or medicine or the future of humankind. Its about faith and family, love and loss. Most of all, its about the life and memory of my brother.

Jason was born with muscle-eye-brain disease. In his case, this included muscular dystrophy, cerebral palsy , severe nearsightedness, hydrocephalus and intellectual disability. He lived past his first year thanks to marvels of modern medicine. A shunt surgery to drain excess cerebrospinal fluid building up around his brain took six attempts, but the seventh succeeded. Aside from those surgeries complications and intermittent illnesses due to a less-than-robust immune system, Jason was healthy. Healthy and happy very happy. His smile could light up a room. Yet, that didnt stop people from thinking that his disability made him worse off. My family and those in our religious community prayed for Jason. Strangers regularly came up to test their fervor. Prayer circles frequently had his name on their lists. We wanted him to be healed. But I now wonder: What, precisely, were we praying for?

Jasons disabilities fundamentally shaped his experience of the world. If praying for his healing meant praying for him to be normal, we were praying for Jason to become someone else entirely. We were praying for a paradox. If I could travel back in time, Id walk up to young, devout Joel and ask: How will Jason still be Jason if God flips a switch and makes him walk and talk and think like you? The answer to that question is hard. Yes, some just prayed for his seizures to stop. Some for his continued well-being. But is that true of most? Is that what I was praying for?

The ableist conflation of disability with disease and suffering is age-old. Just peruse the history of medicine. Decades of eugenic practices. Sanctioned torture of people with intellectual disability. The mutilation of otherwise healthy bodies in the name of functional or aesthetic normality. These stories demonstrate over and over again how easily biomedical research and practice can mask atrocity with benevolence and injustice with progress. Which leads me to ask: What, precisely, are we editing for?

Although muscle-eye-brain disease does not result from a single genetic variant, researchers agree that a single gene, named POMGNT1, plays a large role. Perhaps scientists will soon find a way to correct mutations in that and related genes. Perhaps people will no longer be born with it. But that means there would never be someone like Jason. Those prayers I mentioned above? Science will have retroactively answered them. That thought brings me to tears.

I wish we could cure cancer , relieve undue pain and heal each break and bruise. But I also wish for a world with Jason and people like him in it. I want a world accessible and habitable for people full stop not just the people we design. I worry that in our haste to make people healthy, we are in fact making people we want. We, who say we pray for healing, but in fact pray for others to be like us. We, who say were for reducing disease and promoting health, but support policies and practices aimed instead at being normal. We, who are often still unable to distinguish between positive, world-creating forms of disability and negative, world-destroying forms between Deafness , short stature or certain types of neurodiversity and chronic pain, Tay-Sachs or Alzheimers . It is with great responsibility that we as a society balance along the tightrope of biomedical progress. I long for us to find that balance. Ive certainly not found it for myself. Lest I forget how often weve lost it and how easy it is to fall, I hold dearly onto the living memory of Jason. I no longer pray for paradoxes, but for parity for the promise of a world engineered not for normality, but equality.

But that world will never come if we edit it away.

Read the original:

Gene Editing Might Mean My Brother Would've Never Existed - TIME