A new therapy for Cystic fibrosis helped a 15 years old
patient use her lung again. Her life was significantly transformed as she herself
mentioned it “like a butterfly out of a cocoon”.
Patients often die before
their 40s as mucus clogs and damages their lungs and leaves them prone to
A major trial on 1,108 patients, in the New England Journal
of Medicine, showed a combination of drugs could bypass the genetic errors that
cause the disease and may increase life expectancy.
Early studies have suggested that lumacaftor/ivacaftor, to
be marketed under the brand name Orkambi, is safe for patients homozygous for
F508del — the most common genetic mutation in cystic fibrosis — and lowers the
rate of pulmonary exacerbations. The medicine could alter the microscopic
machinery so they made runnier mucus.
Dr. Susanna McColley, professor of pediatrics at
Northwestern University mentioned it as “groundbreaking finding” and Prof Stuart
Elborn who led the European part of the trial from Queen’s University Belfast
named it as the “fundamental treatment.”
Only half of people with cystic fibrosis make it into their
40s, but a 15 years old British patient has been on the drug Orkambi for three
years and says it is “life changing.”
According to Medscape, in September 2016, The US Food and
Drug Administration (FDA) has expanded the use of the cystic fibrosis (CF) drug
Orkambi (Vertex Pharmaceuticals) to children aged 6 to 11 years who have
two copies of the F508del mutation in the CF transmembrane conductance
regulator (CFTR) gene.
Orkambi has recently received the ‘Drug Discovery of the
Year Award’ award from the British Pharmacological Society and the French ‘Prix
Galien’ award for the most promising rare disease medicine in 2016.
For the first time, a robot operated inside the eye of a man
who was going blind.
surgeons have successfully performed the world’s first robotic operation inside
the eye, potentially revolutionizing the way such conditions are treated.
procedure was carried out at John Radcliffe hospital in Oxford, where surgeons
welcomed its success.
at his follow-up visit at the Oxford eye hospital, Father Beaver said: “My
sight is coming back.
am delighted that my surgery went so well and I feel honored to be part of this
pioneering research project.”
used sound waves to cure patient’s tremors. He had deep brain surgery without
going under the knife.
at Imperial College Healthcare NHS Trust have treated
the first patients using the new technique which avoids the need for invasive
patient who has lived with a tremor for 20 years said:” Since
the treatment I have been able to write my own name for the first time in many
years and I will also be able to go back to using my right hand which will
allow me to take on more painting and decorating jobs.”
Bale, Head of Research Communications and Engagement at Parkinson’s UK, said:
“The development of focused ultrasound techniques offers a new and promising tool
for treating tremor.”
revealed that some psychosis cases are an immune disorder.
Some patients sectioned with psychotic conditions,
such as schizophrenia or bipolar disorder, may
actually have a treatable immune disorder, say Oxford University
scientists. A study in the Lancet Psychiatry suggests up to one in 11 cases of psychosis may involve
antibodies attacking parts of the brain.
A huge leap for prostate cancer treatment reached. Prostate cancer laser treatment could be a gamechanger for men.
therapy uses lasers and a drug made from sea bacteria to get rid of tumors.
at University College London have made what they believe is a real breakthrough
using a drug derived from bacteria found at the bottom of the sea, injected
into the bloodstream and activated in the prostate by laser beams.
Scientists created a mobile game to help detect the early onset of dementia.
collaboration between Alzheimer’s research UK, Deutsche Telekom, game designers
Glitchers and dementia scientists, is pioneering a massive crowd-sourced
database on human spatial navigation. Over 47 million people in the world
suffer from dementia; Alzheimer’s disease is the most form of dementia,
accounting for 60% to 70% of cases. This disease affects parts of the brain
that process visual information and deal with spatial awareness.
breakthrough could lead to the first ever test for dementia, and has
been facilitated by a mobile game.
Hero Quest tests gamers' navigational skills as they direct an old sailor on a
journey to save his lost memories. Since its launch in May it has been
anonymously recording the data of 2.4 million gamers for the biggest
show that people's sense of direction declines as we age, and more rapidly in
those with signs of dementia.
breakthrough discovery bankrolled by 2014’s ALS ice bucket challenge: the
new gene associated with the disease ALS, discovered.
(amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that
affects neurons in the brain and the spinal cord. Eventually, people with ALS
lose the ability to initiate and control muscle movement, which often leads to
total paralysis and death within two to five years of diagnosis. While 10
percent of ALS is familial, meaning it's genetic, the other 90 percent of ALS
cases are considered sporadic, or without a family history. However, it's very
likely that genetics contribute, directly or indirectly, to a much larger
percentage of ALS cases.
newly discovered gene, NEK1, is only associated with 3% of ALS cases, but it is
present in both inherited and sporadic forms of the disease, which researchers
say gives them a new target for the development of possible treatments.
Shima Naghavi, Director of International Affairs