Rare Disease Day 29Feb16-12 activists share what they want you to know about living with a rare disease

When you’re sick, you seek medical advice. Visiting a doctor, you expect answers — usually in the form of a solid diagnosis and medication to get you on the mend.

But imagine your doctor had few answers, saying your illness was rare, and they had never actually met someone with your symptoms. It was so rare, in fact, even they were left doing Internet searches to try to figure it all out.

This medical uncertainty is often a reality for those living with rare diseases and disorders. In the U.S., rare diseases and disorders are defined as illnesses and conditions impacting 200,000 people or fewer across the country. Globally, the threshold for people impacted differs depending on a country’s population. A country like the UK, for instance, marks a disease or disorder “rare” if it impacts 50,000 people or fewer nationwide.

Feb. 29 is Rare Disease Day, which calls on us to recognize the estimated 7,000 rare diseases and disorders worldwide that are too often ignored. With this recognition comes the obligation to listen to those experiencing a rare diagnosis firsthand — the theme of this year’s Rare Disease Day.


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Lab-grown sperm makes healthy offspring

Sperm have been made in the laboratory and used to father healthy baby mice in a pioneering move that could lead to infertility treatments.

The Chinese research took a stem cell, converted it into primitive sperm and fertilised an egg to produce healthy pups.

The study, in the Journal Cell Stem Cell, showed they were all healthy and grew up to have offspring of their own.

Experts said it was a step towards human therapies.

It could ultimately help boys whose fertility is damaged by cancer treatment, infections such as mumps or those with defects that leave them unable to produce sperm.


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‘Earth’s First Animal’ May be Simple Sea Sponge

The first animal to appear on Earth was very likely the simple sea sponge.

New genetic analyses led by MIT researchers confirm that sea sponges are the source of a curious molecule found in rocks that are 640 million years old. These rocks significantly predate the Cambrian explosion — the period in which most animal groups took over the planet, 540 million years ago — suggesting that sea sponges may have been the first animals to inhabit the Earth.

“We brought together paleontological and genetic evidence to make a pretty strong case that this really is a molecular fossil of sponges,” said David Gold, a postdoc in MIT’s Department of Earth, Atmospheric and Planetary Sciences (EAPS). “This is some of the oldest evidence for animal life.”

The results are published today in the Proceedings of the National Academy of Sciences. Gold is the lead author on the paper, along with senior author and EAPS Professor Roger Summons.


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Instant man-made blood vessels could speed up drug discovery

A new method slashes the time it takes to grow functional blood vessels in the lab.


Man-made tissues and organs are useful tools for scientists seeking to understand and potentially fix the human body. One area in which they could have a significant impact is drug discovery, allowing researchers to test therapies in living models prior to animal and human trials. A group of biomedical engineers at Duke University are particularly interested in this use case, leading them to develop a new technique for creating working blood vessels in the lab. And what previous methods took six to eight weeks to achieve, the researchers have managed to condense into a matter of hours.

Taking inspiration from prior research in lab-grown tracheas, the engineers compress tissue cells in a collagen gel to create artificial arteries in only a few minutes. Three hours later, the vessels are formed to the point of being strong enough to carry fluid; and after a week of maturation, they don’t just look like blood vessels — with multiple layers including an outer sleeve of muscle — they behave like them too.

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Dissolvable Brain Sensors Disintegrate Once Their Job Is Done

They can measure pressure, temperature, and much more before being safely absorbed into the body.


“I just took out a bullet from the back of a guy’s head an hour ago,” says Rory Murphy.

As a neurosurgeon at the Washington University School of Medicine, Murphy “deals with brain trauma all the time.” Between bullets, blunt forces, and blood clots, traumatic brain injuries kill around 50,000 people in the United States every year. These kinds of injuries often cause the brain to swell, which constricts the flow of blood and oxygen, and can lead to permanent damage. So surgeons like Murphy need reliable ways of monitoring the pressure inside their patients’ skulls. Sensors exist, but they are large, clunky, and must be removed once the patient has recovered.

Together with a team of engineers, Murphy is developing a better option: a dissolvable pressure sensor. Thinner than the tip of a needle, it can be left in a patient’s brain to take accurate readings for several days, before completely disappearing. You don’t need to remove them because there’s nothing to remove. They just get absorbed into the body.


Link to full article at The Atlantic

Breast Milk Sugars Support Infant Gut Health

Oligosaccharides found in breast milk stimulate the activity of gut bacteria, promoting growth in two animal models of infant malnutrition.


Gut microbes isolated from human infants that showed stunted growth can boost growth in two animal models of malnutrition with the addition of certain breast milk–derived sugars to the animals’ diets, researchers reported. The study, published today (February 18) in Cell, identifies oligosaccharides in mammalian breast milk that appear critical for the maturation of the infant gut microbiome.

“This is an excellent study that highlights the importance of [mammalian] milk oligosaccharides for infant growth and development,” said Lars Bodeof the University of California, San Diego, who was not involved in the work.

The results could inform “work to develop tools and levers to nudge the gut microbiota into the right direction to get durable effects on infant health,” said study coauthor David Mills from the University of California, Davis.


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Stem Cell Gene Therapy Could be Key to Treating Duchenne Muscular Dystrophy

Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy. The stem cell gene therapy could be applicable for 60 percent of people with Duchenne, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

The approach uses a technology called CRISPR/Cas9 to correct genetic mutations that cause the disease. The study, which was led by co-senior authors April Pyle and Melissa Spencer and first author Courtney Young, was published in the journal Cell Stem Cell.


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Cancer researchers claim ‘extraordinary results’ using T-cell therapy

This is unprecedented’ says researcher after more than half of terminally ill blood cancer patients experienced complete remission in early clinical trials

A scanning electron micrograph of a human T lymphocyte (also called a T-cell).
A scanning electron micrograph of a human T-cell. ‘T-cells are a living drug, and in particular they have the potential to persist in our body for our whole lives,’ said researcher Chiara Bonini. Photograph: Alamy

Scientists are claiming “extraordinary” success with engineering immune cells to target a specific type of blood cancer in their first clinical trials.

Among several dozen patients who would typically have only had months to live, early experimental trials that used the immune system’s T-cells to target cancers had “extraordinary results”.

In one study, 94% of participants with acute lymphoblastic leukaemia (ALL) saw symptoms vanish completely. Patients with other blood cancers had response rates greater than 80%, and more than half experienced complete remission.

Link to full article at The Guardian


Zika virus: ‘Strongest evidence yet’ of effect on babies

One of the US’s most senior public health officials has revealed the “strongest evidence to date” of the effect on babies of the Zika virus.

Dr Tom Frieden, head of the Center for Disease Control (CDC), was testifying before politicians in Washington.

He said that data from the cases of two infants in Brazil who died soon after birth indicated the virus had passed from mother to child.

However, he said the suspected link was still not definite.

There are thought to have been more than 4,000 cases in Brazil alone of babies born with microcephaly – abnormally small brains – and where the transmission of Zika virus from mother to child is suspected of being the cause.


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Nanoparticle Therapy That Uses LDL And Fish Oil Kills Liver Cancer Cells

DALLAS – Feb. 8, 2016 – An experimental nanoparticle therapy that combines low-density lipoproteins (LDL) and fish oil preferentially kills primary liver cancer cells without harming healthy cells, UT Southwestern Medical Center researchers report.

“This approach offers a potentially new and safe way of treating liver cancer, and possibly other cancers,” said study senior author Dr. Ian Corbin, Assistant Professor in the Advanced Imaging Research Center (AIRC) and of Internal Medicine at UT Southwestern. “The method utilizes the cholesterol carrier LDL, combined with fish oil to produce a unique nanoparticle that is selectively toxic to cancer cells.”

The study was published in the February issue of the journal Gastroenterology.


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