Rare mutations of gene inspire new heart drugs

What if you carried a genetic mutation that left you nearly impervious to heart disease? What
if scientists could bottle that miracle and use it to treat everyone else?

In a series of studies, the most recent published on Wednesday , scientists have described two
rare genetic mutations that reduce levels of triglycerides, a type of blood fat, far below
normal.People carrying these genes seem invulnerable to heart disease, even if they have
other risk factors.

Drugs that mimic the effects of these mutations are already on the way , and many experts
believe that one day they will become the next blockbuster heart treatments. Tens of millions
of Americans have elevated triglyceride levels. Large genetic studies have consistently
suggested a direct link to heart disease.

Added to the existing arsenal of cholesterol-reducers and blood pressure medications, the
new medications “will drive the final nail in the coffin of heart disease,“ predicted Dr. John
Kastelein, a professor of vascular medicine at the University of Amsterdam who was not
involved in the new research. These experimental triglyceride-reducers are in early stages of
development, however, and human trials have only just begun.

At the moment, the optimism of researchers is rooted less in clinical trial data than in the fact
that nature has produced strong evidence they should work. Finding people who are
impervious to a disease like heart disease can open a door to letting the rest of the population
share their genetic luck.

“It's a huge advance,“ said Dr. Christie Mitchell Ballantyne, chief of cardiology and
cardiovascular research at Baylor College of Medicine and a consultant for Regeneron
(although not for the triglyceride studies). “That doesn't mean it's easy .“ Still, he added,
“what we are seeing is a new approach toward drug development.“

Source: The Times of India

Coming soon: Clinical trials transparency

Big Funders Decide To Make Results Public
 

Some of the world's largest funders of medical research, including Indian 

Council of Medical Research (ICMR), UK Medical Research Council 

and international organisations like PATH and Bill and Melinda Gates 

Foundation, have decided to make public results of all clinical trials funded 

and supported by them.

This assumes significance as almost half of clinical trials go unreported currently. 

Moreover, the move will enhance access to crucial data which can be useful 

in advancement of medical research. The decision is part of an agreement on 

standards, framed by the World Health Organisation (WHO), signed by the 

agencies at the ongoing United Nations' World Health Assembly in Geneva. 

Health Minister J P Nadda and senior officials from the health ministry are 

attending the Assembly where delegates from health groups and civil society 

from across the world are present.

The research institutes and other funding agencies agreed to develop and implement 

policies within the next 12 months that require all trials they fund, co-fund, 

sponsor or support to be registered in a publicly-availa ble registry. They also agreed 

that all results would be disclosed within specified time-frames on the registry or by 

publication in a scientific journal.

“We need timely clinical trial results to inform clinical care practices as well as 

make decisions about allocation of resources for future research,“ said Dr Soumya 

Swaminathan, DG of ICMR. “We welcome the agreement of international 

standards for reporting time-frames that everyone can work towards.“

Most of these trials and their results will be accessible through WHO's International 

Clinical Trials Registry Platform, a unique global database of clinical trials that 

compiles data from 17 registries around the world, including the US' clinicaltrials.gov, 

the EU's Clinical Trials Register, the Chinese and Indian Clinical Trial Registries and many others.

Experts say unreported trial results leave an incomplete and potentially misleading 

picture of the risks and benefits of vaccines, drugs and medical devices, and can lead to 

use of suboptimal or even harmful products. A common registry is expected to solve this 

problem. “Research funders are making a strong statement that there will be no more 

excuses on why some clinical trials remain unreported long after they have been 

completed,“ said Dr MariePaule Kieny, Assistant Director-General for Health Systems 

and Innovation at WHO.

Source: The Times of India

Making brain surgeries more cost-effective

Bengaluru doctor designs low-cost stereotactic head frame

In brain surgeries, precision is everything — a shift of a few millimetres can make the

difference between a successful surgery and putting a patient in coma. One device that

improves the accuracy of neurosurgery is the stereotactic head frame, which provides 
a 3- dimensional coordinate system to help surgeons get the precise location of a nerve 
or tumour in the brain.

However, the device currently used is prohibitively expensive, costing between  
₹75 lakh to ₹1 crore. A city-based doctor has designed a low-cost stereotactic 
frame which can be used to operate on both sides of the brain at a time, unlike 
conventional  frames currently used in hospitals.

The frame designed by Murali Mohan, senior neurosurgeon with BRAINS Sparsh 
Hospitals, is made of medical grade titanium and costs one-third the current price. 
Engineers Sharath Bhat and Sadashiv Bhat of the Mahalasa Medical Technology, 
Bengaluru, developed the device.

Dr. Mohan's inspiration was the late Balasubramaniam Ramamurthi, known as the 
father of Indian neurosurgery.

The frame which is CE marked (it conforms to European standards) and is pending 
patent, is currently being used by a doctors in around six to seven hospitals in 
Bengaluru and Hyderabad for biopsies and deep brain simulations.

Source: The Hindu

Brain chip’ may treat Alzheimer’s

Such implants can help the brain recover after damage. 
 

Scientists develop material that can allow cells to grow and form predictable neural circuits

Scientists, led by an Indian-origin researcher, have developed a new material that could allow

brain cells to grow and form predictable circuits, an advance that may lead to the

development of neural implants.

Such implants can help the brain recover after damage due to an accident, stroke or

degenerative neurological diseases such as Alzheimer’s and Parkinson’s, researchers said.

A team from Australian National University (ANU) grew the ‘brain-on-a-chip’ — brain cells

— on a semiconductor wafer patterned with nano wires that act as a scaffold to guide their

growth.

The scaffold provides a platform to study the growth of the brain cells and how they connect

with each other, said lead researcher Vini Gautam from ANU.

By using a particular nano wire geometry, researchers showed that the neurons are highly

interconnected and predictably form functional circuits.

“The project will provide new insights into the development of neuro-prosthetics, which can

help the brain recover after damage due to an accident, stroke or degenerative neurological

diseases,” Ms. Gautam said.

Neuro-prosthetics

The study is the first to show the neuronal circuits grown on the nano wire scaffolds were

functional and highly interconnected, opening the potential to apply their scaffold design for

neuro-prosthetics, researchers said.

They hope to use the brain-on-a-chip to understand how neurons in the brain form computing

circuits and eventually process information.

“Unlike other prosthetics like an artificial limb, neurons need to connect synaptically, which

form the basis of information processing in the brain during sensory input, cognition, learning

and memory,” said Vincent Daria from Australian National University.

The study was published in the journal Nano Letters.

Source: The Times of India

The ‘public’ in public health

The discourse must move beyond a top-down approach to listen to the people 

and formulate best insurance practices

Much ink has been spilled in documenting the inadequacy of budgetary allocations 

for public health insurance, specifically for the Rashtriya Swasthya Bima Yojana 

(RSBY), the world’s largest publicly-funded health insurance (PFHI) scheme. Though 

the 2017-18 budget allocation has marginally increased from last year’s revised 

estimates, it has declined relative to last year’s budgeted amount by about ₹ 500 crore. 

However, higher budgetary allocation can only constitute a small part of the solution to 

the scheme’s mixed, if not lacklustre, performance.

Under the scheme, a Below Poverty Line (BPL) family of five is entitled to more

than 700 treatments and procedures at government-set prices, for an annual enrolment 

fee of ₹ 30. However, even nine years after its implementation, it has failed to cover a 

large number of targeted families — almost three-fifths of them. Their exclusion has 

been due to factors like the prevalent discrimination against disadvantaged groups; a 

lack of mandate on insurance companies to achieve higher enrolment rates; and an absence 

of oversight by government agencies

Increase in hospitalisation

True, there has been a substantial increase in hospitalisation rates. However, it is 

unclear if it has enabled people to access the genuinely needed, and hitherto unaffordable, 

inpatient care. Often, doctors and hospitals have colluded in performing unnecessary 

surgical procedures on patients to claim insurance money. For instance, hospitals have 

claimed reimbursements worth millions of rupees for conducting hysterectomies on 

thousands of unsuspecting, poor women. Indeed, in the absence of regulations and 

standards, perverse incentives are created for empanelled hospitals to conduct surgeries. 

It is thus not surprising that there is no robust evidence of an improvement in health outcomes.

Evidence on the financial protection front is conflicting as well. One study revealed that

poorer households in districts exposed to the RSBY and other PFHIs recorded an increase in

out-of-pocket (OOP) expenditures for hospital care, and a corresponding rise in incidence of

catastrophic expenditure. There is near-consensus that the RSBY has resulted in higher OOP

expenditures. Though it is a cashless scheme, many users are exploited by unscrupulous

hospital staff.

So, what is the solution? There is a need to bring the ‘public’ back into the discourse on

public health to highlight its present culture. The conversation needs to move beyond a topdown

approach specifying budget allocation and administrative and technical efficiency. It

needs to involve listening to the real public to deliberate on various health practices and

policies.

My ethnographic study of the RSBY in Kalaburagi and Mysuru districts between 2014 and

2016 brought to light that a top-down approach on allocation and coverage was important

but, by itself, did not translate to expected outcomes. What mattered more was the existing

culture of health insurance — how it was perceived, practised and experienced in the

everyday, local worlds of the enrolled households. Though they valued aspects like the

money available and the number of illnesses covered, they were more deeply affected by how

other actors — doctors, local officials, neighbours and even relatives — related to health

insurance.

Card not accepted

The disillusionment of Savitri, one of the beneficiaries, after obtaining the plastic card said it

all: “If public officials only give us the card without telling us how to use it, the card is just

plastic material. Sometimes information is also not correct, making us feel that the card is of

no real value if we do not know how to use it.” Further, many hospitals refused to

acknowledge the card’s value. Shivakumar’s observation summed it well: “We went to the

hospital with the card. Not only could it not be used but also the doctors did not even

acknowledge us as patients... We just brought the card home and tossed it to the shelf.” Many

bemoaned the absence of public debate on health issues and the RSBY card. Deva’s pithy

response was illustrative: “If it is not talked about and debated, we can only think that there is

no big value that we should pay attention to.”

Households clearly separated the economic value from social ones. A section saw health

insurance as a bad omen, one that announced arrival of illness. Ramesh Kumar, among those

in his neighbourhood who refused to enrol, explained: “This card is not a solution for illness,

it is a cause of it. You see, when you people knock on our doors to give us the card, it feels

like an illness is knocking on our doors. The farther away we are from the card, the further

we are from health problems.”

Overall, while the discourse on a greater allocation to RSBY and enhancement of cost 
effectiveness are important, a shift of emphasis is needed, bringing the ‘public’ back into the 
sphere of public health.

Source : The Hindu

Drug-resistant TB cases may spike in India by 2040

The study said the upturn is likely because of increased transmission of drug-resistant
tuberculosis between people, rather than by strains acquiring resistance to drugs.

As per a study, India could witness an alarming spike in cases of drug-resistant tuberculosis
in the next two decades.

A new study has found that India could witness an alarming spike in cases of drug-resistant
tuberculosis in the next two decades. According to the study, published in the prestigious
Lancet medical journal, drug-resistant TB could make up one in ten cases of the disease in
the country by 2040.

A similar spike has been forecast for Philippines, Russia, and South Africa too. “By 2040, a
third of tuberculosis cases in Russia are predicted to be drug-resistant, compared with one in
ten in India and the Philippines, and one in 20 in South Africa,” the study said.

This compares to almost a quarter of cases (24.8 per cent) in Russia, 7.9 per cent in India, 6
per cent in the Philippines, and 2.5 per cent in South Africa in 2000, the study said.
Tuberculosis is a bacterial disease that can be treated with a combination of antibiotic drugs.
However, the “use and misuse” of antibiotics — such as using the wrong drug, or not
completing the full course of treatment — may result in bacteria developing drug resistance,
known as acquired drug resistance.

The study said the upturn is likely because of increased transmission of drug-resistant
tuberculosis between people, rather than by strains acquiring resistance to drugs. While better
access to treatment programmes will reduce rates of drug-resistant TB in the aforementioned
countries, they alone will not eradicate the problem as current efforts may not be enough to
reverse the spike.

The study also called for research into additional control measures to prevent the spread of
the drug-resistant disease. These measures include early detection, reducing the number of
patients who do not complete treatment, and providing tailored treatment depending on which
drugs the strain is susceptible to.

“We cannot focus solely on curing people with TB or drug-resistant TB if we want to halt the
epidemic. Even if we prevent new drug-resistant infections, there are enough current cases to
keep the epidemic going. Drug-resistant TB will continue to be an increasingly dangerous
threat so long as resistant strains spread through the air from one person to another,” said
Aditya Sharma of the US Centers for Disease Control and Prevention.

He said there is a need to dramatically step up efforts to break the cycle of transmission,
while also maintaining efforts to rapidly find and treat all people with tuberculosis. “We must
strengthen infection control measures, focus on households, health centres, and communities
to prevent tuberculosis spreading from person to person, and develop more effective
diagnostic tests to rapidly and accurately detect drug resistance,” he said.

Latest figures estimate that each year there are 10.4 million new cases of tuberculosis, leading
to 1.8 million deaths globally. Nearly 40 per cent of all drug-resistant TB cases occur in
Russia, India, the Philippines, and South Africa -– accounting for more than 2,30,000 cases in
2015.

Source: The Indian express

Time for a national policy on thalassaemia

As the number of thalassaemics grows in India, a prevention and control programme is

nowhere in sight.

Unlike most of her peers, Namitha A. Kumar, a PhD holder from a reputed research institute

in India, considers herself incredibly lucky to be alive. She suffers from thalassaemia, a rare

genetic blood disorder, and lives in a country that currently has no national plan for people

like her.

Dr. Kumar, along with Vijay Chandru from the Centre for Health Ecologies and Technology

(CHET), was instrumental in framing the first ever draft policy in India for rare diseases with

help from the Centre for Human Genetics. The policy was submitted to the Karnataka

government in March 2016.

Thalassaemia is a genetic blood disorder commonly characterised by the abnormal

production of haemoglobin in the body. The abnormality results in improper oxygen transport

and destruction of red blood cells. It has wide-ranging effects on the human body like iron

overload, bone deformities and in severe cases can cause heart diseases. The disease has no

cure and people living with thalassaemia require regular blood transfusions as an effective

measure to prolong life.

Ahead of World Thalassaemia Day on May 8, experts say India is the thalassaemia capital of

the world with 40 million carriers and over 1,00,000 thalassaemia majors under blood

transfusion every month. Despite this, there has been no move to put in place a prevention

and control programme at the national level.

With preventive health checks not being the norm in India, people suffering from

thalassaemia are unknowingly passing on this genetic disorder to their children. Whereas in

the neighbouring Pakistan, a Bill making carrier testing compulsory for relatives of

thalassaemia patients was passed in February. A similar system is in place in Dubai, Abu

Dhabi and Saudi Arabia.

While the number of thalassaemics is growing in India, the effort to provide patients better

health care is largely spearheaded by the private sector and non-governmental organisations.

Over 1,00,000 patients across the country die before they turn 20 due to lack of access to

treatment. The first case of thalassaemia in India was reported in 1938 and every year 10,000

children with thalassaemia major are born in India.

Dr. Kumar has been working to ensure that other thalassaemic patients in India get the same

opportunities that she did.

Demand for a national policy

Shobha Tuli, president of the Federation of Indian Thalassemics, says the need of the hour is

to have a national policy on thalassaemia. “This will help in not just creating awareness about

the disease but also ensure treatment for all and strategies to prevent its spread,” she says. “In

the absence of a national plan to prevent, control and provide adequate treatment for patients,

there is little awareness about the disease. Patients need not just free blood transfusion but

free lab tests and iron chelation medicines and other supplements, which are expensive. The

disease can be prevented just if gynaecologists become more vigilant and screen for

thalassaemia in every pregnant woman,” she says, adding, “Although thalassaemia is now

under the purview of the Rights of Persons with Disabilities Act, 2016, we are not sure what

help we will get from this.”

Dr. Chandru, director of the CHET, said the human and societal burden of hereditary

haematological disorders in India has reached alarming numbers. “The number of adult

carriers of genetic disorders runs into the tens of millions in India. Carrier screening and

prenatal testing through cost-effective multi-gene panel tests is within reach as a public health

initiative and is consistent with the broad goals of the National Health Policy 2017,” he says.

Although some States including Karnataka provide free transfusion and some free medicines

to thalassaemics, there is a need for a better care facility and emergency services and lab

tests. Karnataka has around 5,000 patients who come all the way to Bengaluru for treatment.

The government must set up a basic transfusion facility in every district, demand patients.

Gene therapy

Urging for ‘gene therapy’ as it is the only proven cure available, Gagandeep Singh Chandok,

a thalassaemic, has started a petition on Change.org, an online platform to crowdsource

support for various issues. “There is no known cure for thalassaemia except bone marrow

transplant (BMT) and most patients in India can neither afford it nor do they have relevant

matches with siblings or others. BMT can be done only for children up to the age of 10, after

which it is a serious risk. Our only hope is gene therapy,” he says.

“We were thrilled when research on gene therapy was started in India several years ago.

Unfortunately, due to a lack of incentives, willingness and support, the research has come to a

standstill. There are clinical trials for thalassaemia gene therapy going on around the

developed world. Clinical trials in India were stopped even though we have the highest

number of thalassaemia patients in South Asia,” he adds.

Source: The Hindu