Patients became less distressed and heard voices less often compared with those who had counselling.

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Scientists for the first time have taken the controversial step of trying to edit a gene inside the body – in a bold attempt to permanently change a person’s DNA to try to cure a disease.

The experiment was done in California on 44-year-old Brian Madeux. Through an IV, he received billions of copies of a corrective gene and a genetic tool to cut his DNA in a precise spot.

Recently, in another a first-ever experiment, geneticists successfully modified a human embryo to remove a mutation that causes a life-threatening heart condition.

A major boost

“It’s kind of humbling” to be the first to test this, said Madeux, who has a metabolic disease called Hunter syndrome. “I’m willing to take that risk. Hopefully it will help me and other people.”

Signs of whether it’s working may come in a month; tests will show for sure in three months.

If it’s successful, it could give a major boost to the fledgling field of gene therapy. Scientists have edited people’s genes before, altering cells in the lab that are then returned to patients. There also are gene therapies that don’t involve editing DNA.

But these methods can only be used for a few types of diseases. Some give results that may not last. Some others supply a new gene like a spare part, but can’t control where it inserts in the DNA, possibly causing a new problem like cancer.

This time, the gene tinkering is happening in a precise way inside the body. It’s like sending a mini surgeon along to place the new gene in exactly the right location.

“We cut your DNA, open it up, insert a gene, stitch it back up. Invisible mending,” said Dr Sandy Macrae, president of Sangamo Therapeutics, the California company testing this for two metabolic diseases and haemophilia. “It becomes part of your DNA and is there for the rest of your life.”

Too great to ignore

That also means there’s no going back, no way to erase any mistakes the editing might cause.

“You’re really toying with Mother Nature” and the risks can’t be fully known, but the studies should move forward because these are incurable diseases, said one independent expert, Dr Eric Topol of the Scripps Translational Science Institute in San Diego.

Protections are in place to help ensure safety, and animal tests were very encouraging, said Dr Howard Kaufman, a Boston scientist on the National Institutes of Health panel that approved the studies.

He said gene editing’s promise is too great to ignore. “So far there’s been no evidence that this is going to be dangerous,” he said. “Now is not the time to get scared.”

Fewer than 10 000 people worldwide have these metabolic diseases, partly because many die very young. Those with Madeux’s condition, Hunter syndrome, lack a gene that makes an enzyme that breaks down certain carbohydrates. These build up in cells and cause havoc throughout the body.

Patients may have frequent colds and ear infections, distorted facial features, hearing loss, heart problems, breathing trouble, skin and eye problems, bone and joint flaws, bowel issues and brain and thinking problems.

“Many are in wheelchairs… dependent on their parents until they die,” said Dr Chester Whitley, a University of Minnesota genetics expert who plans to enrol patients in the studies.

Many operations later

Weekly IV doses of the missing enzyme can ease some symptoms, but cost $100 000 to $400 000 (±R1.4 million to R5.6 million) a year and don’t prevent brain damage.

Madeux, who now lives near Phoenix, is engaged to a nurse, Marcie Humphrey, whom he met 15 years ago in a study that tested this enzyme therapy at UCSF Benioff Children’s Hospital Oakland, where the gene editing experiment took place.

He has had 26 operations for hernias, bunions, bones pinching his spinal column, and ear, eye and gall bladder problems.

“It seems like I had a surgery every other year of my life” and many procedures in between, he said. Last year he nearly died from a bronchitis and pneumonia attack. The disease had warped his airway, and “I was drowning in my secretions; I couldn’t cough it out.”

Madeux has a chef’s degree and was part owner of two restaurants in Utah, cooking for US ski teams and celebrities, but now can’t work in a kitchen or ride horses as he used to.

Gene editing won’t fix damage he’s already suffered, but he hopes it will stop the need for weekly enzyme treatments.

Initial studies will involve up to 30 adults to test safety, but the ultimate goal is to treat children very young, before much damage occurs.

How it works

A gene-editing tool called CRISPR has gotten a lot of recent attention, but this study used a different one called zinc finger nucleases. They’re like molecular scissors that seek and cut a specific piece of DNA.

The therapy has three parts: The new gene and two zinc finger proteins. DNA instructions for each part are placed in a virus that’s been altered to not cause infection but to ferry them into cells. Billions of copies of these are given through a vein.

They travel to the liver, where cells use the instructions to make the zinc fingers and prepare the corrective gene. The fingers cut the DNA, allowing the new gene to slip in. The new gene then directs the cell to make the enzyme the patient lacked.

Only 1% of liver cells would have to be corrected to successfully treat the disease, said Madeux’s physician and study leader, Dr Paul Harmatz at the Oakland hospital.

“How bulletproof is the technology? We’re just learning,” but safety tests have been very good, said Dr Carl June, a University of Pennsylvania scientist who has done other gene therapy work but was not involved in this study.

What could go wrong?

Safety issues plagued some earlier gene therapies. One worry is that the virus might provoke an immune system attack. In 1999, 18-year-old Jesse Gelsinger died in a gene therapy study from that problem, but the new studies use a different virus that’s proved much safer in other experiments.

Another worry is that inserting a new gene might have unforeseen effects on other genes. That happened years ago, when researchers used gene therapy to cure some cases of the immune system disorder called “bubble boy” disease. Several patients later developed leukaemia because the new gene inserted into a place in the native DNA where it unintentionally activated a cancer gene.

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The hospital trust is adding a plea on patient appointment letters for donations towards equipment.

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So what should you look out for when choosing a moisturiser? Simply put, moisturisers are substances that keep the water in your skin. But then things can get a whole lot more interesting – a good moisturising cream contains a combination of humectants, emollients and occlusives, which work in synergy to do so much more than prevent moisture escaping. Time to read your labels…

The uniters

Emollients (such as ceramides, vitamin B3 aka niacinamide, and fatty acids) help skin feel more comfortable, soothed and smoothed, keeping it moist and flexible and helping to prevent cracks, by ‘sealing’ the skin’s surface to prevent water escaping.

Ceramides, probably the most well known emollients, are waxy, lipid molecules (made up of fatty acids and sphingosine) naturally present in the skin’s outer layer, and which play a key role in the skin’s barrier function. When applied in a cream, ceramides; a) help increase skin hydration and b) promote optimal barrier function, acting as the mortar in the “brick wall” of your skin, repairing and strengthening the skin barrier.

• SkinCeuticals synthetic ceramides are bioidentical to skin’s natural ceramides. Find them in Triple Lipid Restore 2:4:2
• Lamelle’s patented Ceramide-P, found in Dermaheal Renewal Cream and Ultra Renewal Cream as well as the Serra range, is an exact replica of the lipids that make up your skin barrier. It enters the skin and physically fills in the gaps in the skin barrier.

Vitamin B3 or niacinamide is a water-soluble vitamin found naturally in yeast, meat, fish, milk, eggs, green vegetables, beans, and cereal grains. In a skin cream, niacinamide has been shown to strengthen skin’s moisture barrier and reduce the appearance of discoloration and blotchiness.

• Find it in SkinCeuticals Metacell Renewal B3, Lamelle Luminesce range.
• Obagi Hydrate Facial Moisturizer contains innovative Hydromanil, clinically proven to improve the moisture content of the skin through immediate moisturisation, as well as retaining water and gradually and continuously releasing active moisturising compounds within the skin. This ultra-rich night cream also contains shea and mango butters, avocado and glycerine.
• Neostrata Bio-Hydrating Cream contains various emollient fatty acids, including palmitic acid, humectants and vitamin E.

The attractors

Humectants (such as hyaluronic acid, lactic acid, sorbitol, urea, and glycerine) attract water and help the skin to retain moisture.

Glycerine is probably the most commonly used ingredient. Synthetically derived or found naturally in the lipids (fats) of animals and vegetables, this powerful humectant has water-binding properties that help deliver intense hydration.

• SkinCeuticals only uses vegetable-derived sources of glycerine, and Metacell Renewal B3 contains a 15% concentration of glycerine.

The Big Kahuna is Hyaluronic Acid (HA) – a natural humectant that can hold 1000 times its own weight in water, which is why it is used in injectable fillers to plump up specific areas. It’s the body’s natural hydrator, and is an excellent moisturiser when applied on your skin. The molecule is quite big, however, and various layers of skin can only absorb hyaluronic acid in specific sizes of molecules, so various technologies have been developed to allow the HA to penetrate beyond the superficial skin layers.

• Lamelle has developed HAFi fragments – hyaluronic acid molecules that have been processed into a series of molecules that are the exact size to be absorbed by all parts of the skin. It’s basically the most advanced form of hyaluronic acid you can take. They are found in found in Lamelle’s advanced Dermaheal Ultra Renewal Cream and Hydrating HA Serum Plus.
• SkinCeuticals also uses it in its Hydrating B5 range.

Lactic acid is the stuff that gave Cleopatra her legendary complexion, thanks to her regular baths in asses’ milk. This alpha-hydroxy acid, found naturally in sour milk, loosens and exfoliates old, dead skin cells to effectively bring fresh, young skin cells to the surface.

• Found in Obagi Exfoderm Forte exfoliator and Neostrata Problem Dry Skin Cream and Neostrata High Potency Cream which contains Lactobionic Acid.

The sealers

Occlusives (such as lanolin or petrolatum) are also known as barrier creams.  They form a film on the surface of the skin that seals in moisture.

Some of the most common occlusive emollients are petroleum jelly, coconut oil, jojoba and olive oil, lanolin, and shea butter.

• Lamelle Nourish Revitalise Cream is a medium weight moisturiser for drier skin and combination skins in dry climates during winter. It contains shea butter, avocado oil, urea as well as bio-mimicking NMF amino acids (natural moisturising factor)
• Neostrata Ultra Moisturizing Face Cream helps calm and restore dry, stressed and sensitive skin while significantly improving texture, firmness, lines and overall skin clarity. It features evening primrose oil, palmitic and stearic fatty acids, Macadamia seed oil and glycerine.

Texture talk

Due to their ingredients and for specific reasons, moisturisers have different textures. It makes sense that a richer, more nourishing cream works for dry skin, whereas a lotion suits oily skin types better. And, of course, lighter textures suit warmer seasons and climates, while a richer cream comforts skin during cold months and dry climates.

To help identify your skin type and the moisturiser suitable to yours, visit Skin Renewal at www.skinrenewal.co.za

The singer, now 26, said she had the procedure done as she “always wanted a big family”.

Is your baby’s stuffy nose and cough just a cold or something more serious?

It could be respiratory syncytial virus (RSV), the leading cause of infant hospitalisation in the United States, experts say.

Not serious for most

Respiratory syncytial virus, or RSV, is a respiratory virus that infects the lungs and breathing passages. Healthy people typically experience mild, cold-like symptoms and recover in a week or two.

RSV causes symptoms similar to those of other viruses, including stuffy or runny nose, fever, coughing, sneezing, loss of appetite and irritability. For most little ones, RSV isn’t serious.

But it is the most common cause of bronchiolitis and pneumonia in children under age one. Each year, more than 140 000 babies and young children in the United States are hospitalised because of RSV.

“By age two, 90 to 100% of children have had at least one infection caused by RSV,” said Dr Octavio Ramilo, chief of the division of infectious diseases at Nationwide Children’s Hospital in Columbus, Ohio.

According to the SAMJ, despite ongoing efforts since the 1960s to develop an RSV
vaccine, it has remained elusive.

Antibiotics don’t kill the virus

Infants can be hit hard.

“Babies under three months of age are very prone to get sicker for two reasons: their lungs are very small and therefore unable to handle a lot of inflammation, and the white cells of their immune systems that protect against infections are not ready yet,” Ramilo said in a hospital news release.

Those with a severe RSV infection may refuse their bottle, have trouble sleeping and breathe more rapidly than usual. Parents who suspect RSV should talk to their child’s doctor and go to the emergency department.

Most children recover on their own in about a week, though a cough can linger, according to Dr Asuncion Mejias, principal investigator at Nationwide’s Center for Vaccines and Immunity.

Wash your hands often

“However, for high-risk groups such as young infants, patients with conditions like chronic lung disease and congenital heart disease, and patients with compromised immune systems, RSV can become much more serious very quickly,” Mejias added.

There is no vaccine for RSV and antibiotics do not kill the virus.

A cool mist vaporiser can help children breathe and youngsters older than six months should be given plenty of liquids such as water and fruit juice. Those who are younger should be breast- or bottle-fed small amounts more often, the hospital’s website suggests.

To help prevent RSV, wash your hands often, don’t share dishes and eating utensils, and disinfect hard surfaces. Doctors also suggest parents limit very young infants’ exposure to people (even siblings), especially during winter, when RSV is more common.

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