Sickle cell patient is pain free after geneediting trial altered her DNA – The Times

Sickle cell disease is a genetic condition in which red blood cells, which should be circular, adopt a crescent shape and are sticky and rigidALAMY

The first patients to receive gene-editing treatments for inherited blood diseases will enter the new year free of agonising symptoms.

The experiments suggest that altering DNA could treat sickle cell disease (SCD) and beta thalassemia, conditions both caused by faulty genes that hamper the bloods ability to carry oxygen.

The companies behind the trials said that a patient in the US with SCD had been well since July. A thalassemia patient in Germany had been free of symptoms for nine months. Previously she had 16 blood transfusions a year.

British patients could be offered similar experimental therapies next year. The treatment for both conditions involved a high-precision gene-editing tool called Crispr-Cas9. It was used to alter the DNA of some of the cells of Victoria

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Sickle cell patient is pain free after geneediting trial altered her DNA - The Times

5-year-old UK boy receives potentially life-saving cancer treatment in Singapore – The Independent

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Singapore A young boy from the United Kingdom received treatment for leukaemia in Singapore on Christmas Eve with a procedure that could possibly save his life.

Five-year-old Oscar Saxelby-Lee was diagnosed with a particularly aggressive form of the cancer called T-cell acute lymphoblastic leukaemia over the Christmas holidays last year.

He received chemotherapy and stem-cell treatment back home over the course of the year but the cancer returned in September.

In March, the boy had been featured both on the BBC and in The New York Times when thousands of people responded to a campaign launched by his primary school. They signed the stem cell register and donated bloodto see if a match could be found for him, as a stem cell transplant had been recommended but neither of his parents was a close enough match.

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Three matches were found by the end of March, and in May, the transplant was scheduled.

The boys health improved temporarily but by September his family announced that the cancer had recurred.

Oscars friends, family, community and even complete strangers rallied around him again, and raised 500,000 (approximately S$880,000) through crowdfunding to bring him to Singapore for the treatment, which is not available in the UKs National Health Service (NHS).

Ms Olivia Saxelby, the boys mother, told bbc.com that the treatment, called CAR-T therapy, which reprograms the cells in patients immune systems, is designed for individual patients. The reprogrammed cells then are used to target the cancer cells.

Within a week, Ms Saxelby said, doctors will determine whether the procedure was effective.

She called their journey since Oscar received treatment an emotional ride.

The Saxelby-Lee family has been in Singapore from the middle of last month and could stay for as long as half a year.

Another young boy from the UK, Zac Oliver, received the same treatment in the United States in March this year. He has been declared free from cancer.

Zac was diagnosed with acute lymphoblastic leukaemia in May last year and was brought to the Childrens Hospital of Philadelphia by November, after a similar crowdfunding effort also raised 500,000 for his treatment and travel.

The boys CAR T-cell therapy lasted 17 weeks and he was given a 60 to 80 per cent chance of survival. In March, however, he said in a video posted on Facebook: Guess what everyone, I have no cancer.

Zacs rare condition affects only one out of every 200 childhood leukaemia patients around the world. -/TISG

Read related:Toshiba says its device tests for 13 cancer types with 99% accuracy from a single drop of blood

Toshiba says its device tests for 13 cancer types with 99% accuracy from a single drop of blood

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5-year-old UK boy receives potentially life-saving cancer treatment in Singapore - The Independent

The best beauty products and spa treatments for New Year’s Eve parties – Evening Standard

The hottest luxury and A List news

New Years Eve is around the corner - and if your skin is lackinglusterafter spending most of the Christmas season boozing, meet your quick-fix beauty products.

Get the glow

(CharlotteTilbury)

CharlotteTilburysFlawless Finish foundation is my skin saviour. This is my go-to for those days that I need model-worthy skin with minimal effort. I don't need to mess around with concealer since the foundation has enough coverage without looking heavy. Not only does it look amazing, but it also comes with some incredible benefits: moisture levels are boosted by 216 percent, exposure to pollutants isreduced, it's sweat-proof, humidity-proof, water-proof and transfer-resistant and comes with wrinkle-reducing qualities.

(CharlotteTilbury)

Apply it withTilburysfoundation brush for a truly naturally airbrushed finish.

(AugustinusBader)

If you're looking for a more in-depth reboot for your skin in 2020,AugustinusBadersrange is ano-brainer. There's an incredible amount of science that goes behind these miracle creams - ProfessorAugustinusBaderis among the worlds leading scientific minds in stem cell biology.

No wonder natural beauties like Naomi Campbell, Alexa Chung, Demi Moore and Dakota Johnson are devoted fans and the range has picked up prestigious awards. I would consider myself a skincare aficionado with over ten years in the fashion and entertainment industry, and I can assure you theres not one single skincare product I've tried that's as transformative asBadersproduct The Cream. It's an understated, refined transformation - more Frenchfashionistathan Beverley Hills housewife. Afterusing The Cream I began receiving unsolicited compliments from strangersonly a week into its use.

(The Dorchester)

If you would rather see afacialistor top up your new skin care routine with the help of an expert, dont fret - your 2020 prescription for a fresh-faced glow comes in the formAdeelaCrowns top-of-the-line facials at The Dorchester. I'm a huge fan ofmicrocurrentfacials as facial features are drastically lifted and sculpted and Crowns Supersculpt treatment harnesses this technology to impressive results. Just as wow-worthy is her signature Skincredible treatment - using a method called Skindance, which combines elements of Chineseguasha, Hungarian massage and Tanaka acupressure to shift deep-seated toxins and encourage blood flow, sculpting the facial contours. Appointments are in demand, however, usually Crown is in on Thursdays, Fridays and the first and second Saturday of each month

Wow with those brows

They say that brows frame the eyes and highlight your best features - so why wouldn't you pay them extra attention? LA brand Hourglasscreated the Arch Brow Sculpting Pencil - a clever combo of powder, wax and pencil. You are able to recreate fine brow hairs easily with the pointed tip and the flat edge is designed to subtly shade for an effect that is very natural. Use a light hand and simply set with a clear gel for brows that wow.

If you cannot be bothered fiddling with your brows almost daily, why dont you treat yourself to a more (semi-)permanent solution?DaxitaVaghelais Londons top eyebrow technician and she has tended to the brows and lashes of stars JessicaChastain,LupitaNyongo, Michelle Pfeiffer and Sandra Oh to name but a few.

(Daxita)

Microbladingmay conjure thoughts of exaggerated slugs resting above your eyes, however,Daxitasarent your cliched Essex-brows at all - she can create the most natural and subtle effect with her experttechnique. Its almost impossible to tell which eyebrow hairs are your own and which areDaxitascreations. She also takes time to listen to what type of effect you wish to achieve and errs on the side of caution - because if you wish to go for something more dramatic this can always be added on later. This cautious and meticulous approach is why the treatment requires a total of three visits to achieve the end product. This may seem like quite the commitment, but if you spend time perfecting your brows almost daily - this really is an investment to save a lot of effort over the course of the year.

Tame that mane

When it comes to styling your own hair, it is always a battle with tangles, heat damage and lack of technique. Especially on New Years Eve, there's no time for any of that, so this is when DysonsAirWrapstyler - the Rolls Royce of hair tools - comes to the rescue. It's the closest thing to becoming your own hairstylist. In fact, it is a product loved bystylist to the stars Jen Atkin.

(Courtesy Photo)

Six years of research and development went into creating this state-of-the-art styling tool that specialises in a smooth finish without extreme heat. It all comes down to Dysons ability to manipulate airflow - something the company is well versed in. TheAirwrapcomes with six different attachments, so whether you want to bring in the New Year with voluminous curls, beach waves or a smooth and straight do - the sky is the limit and there are plenty oftutorials guiding you to achieving hair perfection all year round. It is also the lazy girls best friend; in the morning I tend to dampen the hairs framing my face and a few sections at the back and then work them using a couple sweeps with theAirwrapand - voila! Salon-fresh locks created in minutes.

(Courtesy Image)

If you would prefer to try theAirWrapin person first, Dysons new Beauty Lab which is situated above the Dyson Demo Store on Oxford Street is the perfect place to experience the array of different styles that can be achieved with the near-magical tools.

(Courtesy Image)

You can book a 45-minute appointment online or try your luck with a walk-in appointment. It is a really useful way to learn how to make the most out of their hair tools with the help of professional stylists. If you do decide to take the plunge and purchase theAirWrap(and banish bad hair days in the process) you can also personalise yourAirWrapcase with your initials when purchasing it in store.

Post-party prescription

Surely not the most exciting part of your party regime, yet easily the most underrated is caring for your clothes and accessories after an epic night out. Aftercare naturally fits within the sustainability movement, as taking proper care of your clothing can lengthen their life. Contrary to popular belief, garments that lose colour or shape are often not worn out - they are either washed incorrectly or simply washed too often. Clothes that are properly maintained with the correct care will last.

(Courtesy Image)

This is why I love the compact steamers fromSteameryStockholm. I much prefer steaming to ironing as it takes up way less space (those bulky ironing boards are my worst nightmare) works on all kinds of fabrics, and the steam also reduces bad odours and removes shallow dirt. It is also super easy to bring on a weekendtrip. Steaming is also more environmentally friendly, since you dont have to wash the clothes that only need to be refreshed. The Swedish brand also offers electric fabric shavers to get rid of unsightly pilling. The companys innovative approach extends tocustomer service via an excellent discussion forum.

(Courtesy Image)

In some instances, steaming might not be enough to solve all your aftercare woes - especially if your wild night resulted in some lost sequins from yourKitrimidi-dress or your suedeshoes were trampled on. This is where Hicks of Chelsea has you covered.

Hicks offers extensive repairs for shoes, clothing and accessories (including watches!) as well as very high quality, non-aggressive eco-friendly dry cleaning. They also take care of laundry and household items, offer alterations and even key cutting. Part of the Pavilion Road village inKnightsbridge, Hicks of Chelsea is every bit the chic neighbourhood dry cleaners youd expect - and more. Their ethos is to be kind to your clothing as well as the environment. There's even a complimentary collection and delivery service offered by Hicks for those living or working in London: the Hicks driver will collect items from the most convenient location for you and deliver them back, packaged and ready for safe return to your wardrobe.

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The best beauty products and spa treatments for New Year's Eve parties - Evening Standard

2019 Was a Year for Advancements in Infectious Disease – Pharmacy Times

Jeannette Y. Wick, RPh, MBA, FASCP

Often, when American pharmacists think about advancements, we think locally or nationally. In the case of infectious disease, however, we must think globally. When it comes to infectious agents, we need to be more concerned about outbreaks, epidemics, and drug resistance all over the world, as these could eventually affect people in the United States.1 Issues including HIV, immunization, malaria, travelers health, and tuberculosis are of tremendous concern,1 and some breakthrough treatments have been approved or are close to approval. Other advancements this year offer hope for people who develop pneumonia.

Lets look at 5 developments.

1. Epidemic forecasting. Infectious disease outbreaks are major contributors to global morbidity and mortality. Real-time epidemic forecasting, which comprises systems that use predictive modeling to help health care providers prepare and respond, continues to advance. These systems rely on epidemic surveillance and consider several factors, such as agent and host mobility, environmental and host susceptibility, health care capacity, pathogen transmissibility, and population density. For predictive modeling to operate effectively, health care providers need standardized case definitions, and they need to share their data quickly.2 Investigators have used epidemic forecasting in food animal herds, which are easier to control and smaller, for years and are now implementing these models in human populations. Investigators have also had good results in modeling viral outbreaks such as dengue, Ebola, and influenza.3 And Japanese investigators used a predictive model to anticipate the likely size of a measles epidemic in real time. This model was used to evaluate public health control measures.4

2. Inhaled antibiotics to treat pneumonia. The leading cause of death from infectious disease is pneumonia.5 The lungs anatomical and physiological features limit antimicrobial access to the infection site, limiting intrapulmonary penetration of most systemically administered antimicrobials (eg, aminoglycosides and -lactams).6 The marrying of drugs and devices has changed outpatient care in a number of conditions, and infectious disease is no exception. Antimicrobials that can be inhaled allow noninvasive, sustained drug concentrations in the pulmonary area, with minimal systemic exposure. Inhaled therapy also raises the possibility of using drugs that have dose-limiting toxicities when given systemically, so patients can receive therapeutic or supratherapeutic doses with few systemic adverse effects.7,8 A number of inhaled medications are available, including:9-12

3. A possible cure for Ebola. Ebola is a viral hemorrhagic fever in humans and other primates. The FDA has granted breakthrough therapy designation for the investigational Ebola treatment mAb114.14 Tested in patients who contracted Ebola during the ongoing outbreak in the Democratic Republic of the Congo (DRC), mAb114 reduced the mortality rate. Investigators isolated this monoclonal antibody from a survivor of the 1995 DRC Ebola outbreak. This survivor had antibodies 11 years after infection, indicative of a strong immune response. In a randomized controlled trial that is continuing in DRC, mAb114-treated patients had an overall mortality rate of 34% compared with 53%, 49%, and 29% for 3 other drugs in the trial. Patients with low viral loads responded best, with a mortality rate of 11%.14

4. Pretomanid for highly drug-resistant tuberculosis (TB). Globally, about 40,000 individuals have highly drug-resistant TB.15 Although only a few cases have been reported in the United States, that is how outbreaks start: with a few cases. Pretomanid is an oral nitroimidazooxazine antimycobacterial. It has been given in the bedaquiline, pretomanid, and linezolid (BPaL) regimen. The Global Alliance for TB Drug Development tested BPaL in a trial of 109 patients. Remarkably, 89% were cured. Previously, best cure rates with other antimicrobials hovered at 34% overall. The BPaL combinations most common adverse effects are peripheral and optic nerve damage, acne, anemia, nausea, vomiting, headache, and abnormal liver tests.15,16 The combination has also been associated with QT prolongation.15

5. Lefamulin for adults with community-acquired bacterial pneumonia (CABP). The FDA approved lefamulin for CABP caused by Chlamydophila pneumoniae, Haemophilus influenzae, Legionella pneumophila, Mycoplasma pneumoniae, Staphylococcus aureus (methicillin-susceptible isolates), and Streptococcus pneumoniae.17 It is available as an injection for intravenous administration or a 600-mg tablet administered orally every 12 hours for 5 days. The drug, a novel pleuromutilin antibiotic, offers an alternative, though a costly one, to moxifloxacin.18,19

CONCLUSIONBreakthrough developments have been few and far between in infectious disease for numerous reasons. This year, investigators have made inroads in important areas, giving reason to hope for more breakthrough therapies in 2020.

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2019 Was a Year for Advancements in Infectious Disease - Pharmacy Times

Where Are They Now? Kira’s quest continues – Kamloops This Week

Danica Crawford undertook a brave initiative in March of 2018.

She asked for donations so her five-year-old daughter Kira, who has cerebral palsy, could undergo potentially life-altering treatments.

The community responded.

In 21 months, donors from Kamloops and beyond have given more than $62,000 to help Kira heal and, with support from her mother, family and the community, Kira has made progress.

Now seven years old, Kira has undergone both of the therapies her mother planned to pursue when launching the campaign.

First up was a procedure in July 2018 called selective percutaneous myofascial lengthening (SPML), a surgical treatment intended to relieve spasticity in her legs.

Cerebral palsy often causes problems with body movement, posture, speech, swallowing and muscle stiffness.

She gained a lot of core strength because that tension was relieved. So the rest of her body relaxed and she gained strength and stability, Crawford said.

Those gains meant Kira could begin using a walker that she could navigate in and propel by herself, requiring only minor course corrections from mom or help getting around obstacles when the two are walking together.

That is a huge gain just in itself, Crawford said.

The surgery has also meant Kira can keep herself upright for longer.

Before, regular therapy over the course of a year allowed Kira to sit independently although with her head hanging down for up to eight seconds.

Now, with better neck strength and control and even further therapy in Toronto earlier this year, Kira can hold her head up by herself. In October, she sat by herself for one minute.

Over the past year, Kira has also improved her finer motor skills and can hold a pencil for up to five minutes, can bring her hand to her mouth and can hold her toys.

Crawford said she is able to speak more than she could before and can spend more time in her classroom at school.

Thats a huge change, to be able to tolerate situations like that, Crawford said. Now shes in the classroom, proving she knows her numbers and showing her cognition and understanding of what the other kids are learning.

Its huge she can express those things now.

In August, Kira underwent her other planned therapy stem cell treatment at Duke University in North Carolina.

The effects of that treatment have not necessarily taken effect just yet. Doctors told Crawford signs of improvement likely wouldnt appear until after January.

But Crawford said Kira has seen the foundations for some greater changes already and the hope is for a 30 per cent overall improvement, not just in motor skills and communication, but in her whole life experience.

The treatment helps with the formation of new neural pathways, meaning Kiras ongoing physical and cognitive therapies are that much more important in the coming months.

When KTW asked Crawford for an update on her daughter, she gathered her thoughts on what it has felt like to receive this much support from the community.

It has been a challenge. As a family who is requesting support, you feel like every purchase youre making you second-guess it, Crawford said. Everything you do, you feel a little funny about. The fact is that Kiras money is Kiras money and it goes toward helping Kira directly.

Its also the most beautiful experience and I almost feel like being shown so much love and so much support it has made life so beautiful for us. I feel like were really lucky to receive that way.

Crawford said she is eager to pay it forward in the small ways she can sharing Kiras experience through social media and connecting with other families in similar situations.

Its been the most beautiful experience of my life and its been the most beneficial experience for Kiras life. She would not be doing these things if it werent for the support people have given, Crawford said.

Updates on Kiras progress can be found on the Facebook page Kira Shines, which can be found by clicking here. Her crowdfunding campaign can also be found on GoFundMe by clicking here.

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Where Are They Now? Kira's quest continues - Kamloops This Week

2019: The year gene therapy came of age – Eyewitness News

Victoria Gray's recovery from sickle cell disease, which had caused her painful seizures, came in a year of breakthroughs in one of the hottest areas of medical research -- gene therapy.

Picture: Supplied.

WASHINGTON, United States - In the summer, a mother in Nashville with a seemingly incurable genetic disorder finally found an end to her suffering -- by editing her genome.

Victoria Gray's recovery from sickle cell disease, which had caused her painful seizures, came in a year of breakthroughs in one of the hottest areas of medical research -- gene therapy.

"I have hoped for a cure since I was about 11," the 34-year-old told AFP in an email.

"Since I received the new cells, I have been able to enjoy more time with my family without worrying about pain or an out-of-the-blue emergency."

Over several weeks, Gray's blood was drawn so doctors could get to the cause of her illness -- stem cells from her bone marrow that were making deformed red blood cells.

The stem cells were sent to a Scottish laboratory, where their DNA was modified using Crispr/Cas9 -- pronounced "Crisper" -- a new tool informally known as molecular "scissors."

The genetically edited cells were transfused back into Gray's veins and bone marrow. A month later, she was producing normal blood cells.

Medics warn that caution is necessary but, theoretically, she has been cured.

"This is one patient. This is early results. We need to see how it works out in other patients," said her doctor, Haydar Frangoul, at the Sarah Cannon Research Institute in Nashville.

"But these results are really exciting."

In Germany, a 19-year-old woman was treated with a similar method for a different blood disease, beta-thalassemia. She had previously needed 16 blood transfusions per year.

Nine months later, she is completely free of that burden.

For decades, the DNA of living organisms such as corn and salmon has been modified.

But Crispr, invented in 2012, made gene editing more widely accessible. It is much simpler than preceding technology, cheaper and easy to use in small labs.

The technique has given new impetus to the perennial debate over the wisdom of humanity manipulating life itself.

"It's all developing very quickly," said French geneticist Emmanuelle Charpentier, one of Crispr's inventors and the cofounder of Crispr Therapeutics, the biotech company conducting the clinical trials involving Gray and the German patient.

CURES

Crispr is the latest breakthrough in a year of great strides in gene therapy, a medical adventure started three decades ago when the first TV telethons were raising money for children with muscular dystrophy.

Scientists practising the technique insert a normal gene into cells containing a defective gene.

It does the work the original could not -- such as making normal red blood cells, in Victoria's case, or making tumour-killing super white blood cells for a cancer patient.

Crispr goes even further: instead of adding a gene, the tool edits the genome itself.

After decades of research and clinical trials on a genetic fix to genetic disorders, 2019 saw a historic milestone: approval to bring to market the first gene therapies for a neuromuscular disease in the US and a blood disease in the European Union.

They join several other gene therapies -- bringing the total to eight -- approved in recent years to treat certain cancers and inherited blindness.

Serge Braun, the scientific director of the French Muscular Dystrophy Association, sees 2019 as a turning point that will lead to a medical revolution.

"Twenty-five, 30 years, that's the time it had to take," he told AFP from Paris.

"It took a generation for gene therapy to become a reality. Now, it's only going to go faster."

Just outside Washington, at the National Institutes of Health (NIH), researchers are also celebrating a "breakthrough period."

"We have hit an inflection point," said Carrie Wolinetz, NIH's associate director for science policy.

These therapies are exorbitantly expensive, however, costing up to $2 million -- meaning patients face gruelling negotiations with their insurance companies.

They also involve a complex regimen of procedures that are only available in wealthy countries.

Gray spent months in the hospital getting blood drawn, undergoing chemotherapy, having edited stem cells reintroduced via transfusion -- and fighting a general infection.

"You cannot do this in a community hospital close to home," said her doctor.

However, the number of approved gene therapies will increase to about 40 by 2022, according to MIT researchers.

They will mostly target cancers and diseases that affect muscles, the eyes and the nervous system.

**BIOTERRORISM **

Another problem with Crispr is that its relative simplicity has triggered the imaginations of rogue practitioners who don't necessarily share the medical ethics of Western medicine.

Last year in China, scientist He Jiankui triggered an international scandal -- and his ex-communication from the scientific community -- when he used Crispr to create what he called the first gene-edited humans.

The biophysicist said he had altered the DNA of human embryos that became twin girls Lulu and Nana.

His goal was to create a mutation that would prevent the girls from contracting HIV, even though there was no specific reason to put them through the process.

"That technology is not safe," said Kiran Musunuru, a genetics professor at the University of Pennsylvania, explaining that the Crispr "scissors" often cut next to the targeted gene, causing unexpected mutations.

"It's very easy to do if you don't care about the consequences," Musunuru added.

Despite the ethical pitfalls, restraint seems mainly to have prevailed so far.

The community is keeping a close eye on Russia, where biologist Denis Rebrikov has said he wants to use Crispr to help deaf parents have children without the disability.

There is also the temptation to genetically edit entire animal species -- malaria-causing mosquitoes in Burkina Faso or mice hosting ticks that carry Lyme disease in the US.

The researchers in charge of those projects are advancing carefully, however, fully aware of the unpredictability of chain reactions on the ecosystem.

Charpentier doesn't believe in the more dystopian scenarios predicted for gene therapy, including American "biohackers" injecting themselves with Crispr technology bought online.

"Not everyone is a biologist or scientist," she said.

And the possibility of military hijacking to create soldier-killing viruses or bacteria that would ravage enemies' crops?

Charpentier thinks that technology generally tends to be used for the better.

"I'm a bacteriologist -- we've been talking about bioterrorism for years," she said. "Nothing has ever happened."

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2019: The year gene therapy came of age - Eyewitness News