Genetic Blood Disease Nearly 100% Cured With New Therapy

Gene therapies herald the future of medicine, as they promise to do the impossible - cure hereditary diseases that were either completely or mostly out of reach for previous medical therapies. And now, for the first time, we have proof that gene therapies, namely CRISPR, can permanently cure two hereditary blood disorders - sickle cell anemia and beta-thalassemia. 

 

CRISPR is a highly promising gene therapy that has the potential to be used for a variety of hereditary health conditions. The cutting-edge technology is capable of fixing genetic mutations by replacing them with healthy bits of DNA. A blood condition named sickle cell anemia and another related disorder called beta-thalassemia were among the first to be successfully treated with CRISPR. 

 

What are sickle cell anemia (SCA) and beta-thalassemia (TDT)? 

Sickle cell anemia is a dreadful blood disorder that affects millions worldwide and is considered one of the most common blood diseases in the United States. SCA is a hereditary condition that disproportionately impacts people of African-American heritage. 

 

Sickle cell anemia is widely researched, which makes it a great candidate for CRISPR. Scientists have isolated a single genetic mutation that causes this condition. This mutation affects hemoglobin - a compound in the red blood cell responsible for carrying oxygen to the cells in the body. Beta-thalassemia is also caused by a few different genetic mutations that alter hemoglobin.

 

The structure of hemoglobin in SCA patients is atypical, which contorts the red blood cells out of their usual flat and round shape into a sickle shape, so they’re more likely to stick together and block blood vessels. For this reason, SCA patients have a higher risk of stroke, and the deformed red blood cells can also clog the liver, heart, spleen, lungs, or eyes. 

 

As a result of both conditions, the altered hemoglobin isn’t able to provide the body with enough oxygen, and patients suffer from chronic fatigue, shortness of breath, and in the case of SCA, extremely painful attacks called sickle cell crises. 

 

Until recently, the only known cure for both of these conditions was a bone marrow transplant - a risky and difficult procedure that isn’t available for all patients. Patients also need frequent blood transfusions, antibiotics, and pain relief medications to manage the condition on a day-to-day basis.  

 

CRISPR Gene Therapy

The treatment for these two blood disorders was developed by CRISPR Therapeutics and Vertex. The first trials for sickle cell disease and beta-thalassemia began in 2020, with a promising outcome. But now, 3 years following the beginning of the trial, the initial positive results still last for the majority of participants. 

 

The therapy is called CTX001, or simply exa-cel, and it’s a single-dose treatment that alters the patients’ cells to start making the kind of hemoglobin they did at birth, which isn’t warped. The results of the trial were presented at the European Hematology Association Congress, and they reported the results of 75 participants. The gene therapy trials were collected from the blood stem cells of participants. 

 

Of these participants, 44 were TDT patients, and 42 were transfusion-free following the treatment. The other two patients required fewer transfusions. Of the SCD patients, all of them were free of sickle cell attacks. Although two patients experienced initial adverse effects, they resolved on their own over time. Moreover, the effectiveness of exa-cel did not diminish even three years following the treatment. So currently, the majority of participants are essentially cured of the disease. 

 

To sum up, a single-dose CRISPR treatment administered to patients with sickle cell anemia and beta-thalassemia is showing a consistent and lasting improvement in the patients’ well-being even 3 years following the therapy. The researchers will continue monitoring the patients to see whether or not these results are permanent. “Although we must continue to investigate the durability of these results, I am excited about the current data,” said the author of the trial abstract Stephan A. Grupp of the Children’s Hospital of Philadelphia.

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Using CRISPR to switch off pain gene becomes a possibility with new study

A path-breaking study reports success in disabling an important gene that is responsible for inducing the sensation of pain. This discovery could be of invaluable assistance to millions of patients with chronic pain, helping them to manage their condition better and live with a vastly better quality of life.

The tool - CRISPR

The gene therapy was brought out by scientists from a California startup called Navega Therapeutics. The basis of this technique is gene therapy, making planned and selective alterations in the patient’s DNA to repress the expression of a gene that is responsible for sending the pain signals up the nervous network in the spine.

The tool used to alter the DNA is the powerful CRISPR editor. This has already proved its worth in a host of laboratory gene-editing procedures, but clinically, its use has largely been restricted to rare inherited medical conditions.

For instance, last month, a patient suffering from sickle cell anemia due to the production of abnormal hemoglobin because of a gene defect was successfully reverted to having normal hemoglobin using this method.

CRISPR functions by means of homing molecules that identify and zoom in on a designated or target gene to be edited. Once identified, the target gene is removed neatly, the normal copy is inserted, and the cut ends spliced with the inserted sequence. In effect, a find-and-replace routine has been used.

The study

In the current study, the scientists were able to avoid the potential dangers of cutting out a gene altogether, which include inadvertently removing or interfering with normal neighboring regulatory or coding DNA. This could affect many functions in the body. Instead, they concentrated on regulating the expression of the gene of interest rather than removing it.

To achieve this, they used CRISPR to edit molecules attached to the basic DNA strand, called epigenetic molecules. These molecules are not part of the genetic information in the DNA but have an immense influence on the way the genes are expressed.

This is called epigenome editing and does not carry the same risk of permanently altering the genetic blueprint of the individual. The advantage is that the target gene can be prevented from being activated, or can be activated, according to need, while still remaining intact.

The target

The gene is called SCN9A. It was back in 2006 that certain mutations in this gene were found to deprive the affected individual of the ability to feel pain. This was because the mutated gene down-regulated the passage of the pain signals across the neural pathway, by controlling certain molecules involved in this process, found on the cell surface of the neurons.

The researchers then focused on using this to treat pain without the risks and adverse effects of opioid medication. They tried to edit the epigenetic marker that activated this pathway using CRISPR inserted into a viral vector. The virus used is a harmless one.


These treated viral particles were inserted into the spine so that they can enter the nerve cells there. The scientists hoped that once inside the cell, the virus would release the CRISPR tool as it disassembled itself in preparation for replication. The gene editor would then, presumably, carry out its task of editing the epigenetic marker that activates the SCN9A gene.

The results

The first round of testing of the therapy on mice has successfully concluded, says Moreno. “We are really excited because we have seen, in three different pain models, a decrease in overall pain.” 
Though the researchers found that they could not completely silence the pain because not all nerve cells were penetrated by the viral vector, there was a significant reduction.

Moreover, the degree of pain reduction was tunable, as with conventional pain medication. The more virus they injected, the greater was the pain relief, but it lasted much, much longer than with a painkiller.

The big benefit of the current therapy is that unlike current approaches that focus on relieving pain by administering opioid-based medication, it doesn’t carry the risk of addiction. At present, the US is facing an unprecedented two million-strong caseload of opioid addiction due to improper and over-zealous prescription of opioids for the treatment of pain.

Moreno cites the case of cancer patients who are unable to tolerate chemotherapy because of the intense associated pain, even though they know it could save their lives. The paradox with chemotherapy for cancer is that higher doses of these cytotoxic drugs increase the chances of surviving cancer-free for a longer time – but may leave the survivor with chronic pain.

In many centers, therefore, patients on chemotherapy are given morphine to dull their pain. This may, however, leave them unable to function normally because of the associated somnolence and tiredness.

On the other hand, the effect is reversible, which is important in allowing people treated in this way to feel pain normally once their need for dulled pain is no longer present, such as following the termination of chemotherapy.

The future

The American scientists now want to begin testing it in human patients from the next year. If it is proved to be medically safe and clinically effective, these researchers could have helped to bring about a dramatic reduction in suffering for a vast army of people with terminal painful illnesses and with chronic pain. However, the earliest date at which approval is envisaged is five years from now.

The other side of the discovery was also raised by Urnov: what if people used it to produce humans who could no longer feel pain and could, therefore, fight to the death without fear? In the current world scenario, such a terrifying possibility also needs to be considered for this exciting new discovery– a point not missed by Russian President Vladimir Putin.

This is only for your information, kindly take the advice of your doctor for medicines, exercises and so on.     
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What Can You Do to Save Yourself in Case of a Stroke?

Stroke is one of the leading causes of death in the US. Every year, 140,000 Americans die of stroke and many more are left with irreparable brain damage. Deaths from stroke are especially common in the American southeast, northern Texas and parts of Oklahoma (in what is sometimes called the “stroke belt”), particularly among low-income households.

But what is stroke, how can you recognize a stroke as it’s happening to you and what should you do if you suspect you’re having a stroke?

In case you think you’re having a stroke right now, stop everything and call 911

A stroke is a disruption in the blood flow to the brain that causes rapid cell death, ending in death, coma, or physical and mental disability. Around 75% of stroke survivors are disabled to some degree, as the damage to the brain during the stroke hampered their ability to move or communicate.

The two types of stroke are ischemic and hemorrhagic. By far the most common type of stroke, an ischemic stroke is caused by loss of blood flow to the brain, typically due to a clot in the arteries. Hemorrhagic strokes are far less prevalent at only 15% of strokes, but they are far deadlier, accounting for around 40% of stroke deaths. They are caused by damage to a blood vessel in the skull, resulting in internal bleeding in the brain or the meninges, the coverings that envelop and protect the brain.

Are you at a higher risk of having a stroke?

The number one cause of any type of stroke is high blood pressure, as this condition can both weaken and rupture blood vessels as well as lead to the formation of blood clots and a layer of plaque within the arteries. High blood pressure (also called hypertension) is defined as a blood pressure measurement of 130/80 mmHg and above.

Seniors make up nearly 75% of stroke victims, as the odds of having a stroke more than double each decade after the age of 55. This is largely due to a weakening arterial integrity on top of other preexisting risk factors. Additionally, women are more susceptible to have a stroke than men, and die at a higher rate from stroke than men.

Common risk factors for stroke include smoking, diabetes, sickle-cell anemia, a sedentary lifestyle, obesity, and a diet rich in fat, oil and salt.

Here are several surprising risk factors for stroke and other cardiovascular diseases,

How to identify a stroke

The tell-tale signs of a stroke are:

1. One side of the face drooping down, even when the person is trying to smile

2. One arm dropping to the side uselessly

3. Slurred and nonsensical speech.

If someone displays either of those signs, call an ambulance, as time is of the essence.

What does a stroke feel like?

The symptoms of a stroke vary, depending on several factors, such as the side of the brain that was affected and your gender. Common symptoms include:
•    Feeling numbness in the face or limbs, particularly on one side of the body
•    Sudden trouble seeing with one or both eyes
•    Problems associating language (either written or spoken) with meaning
•    Difficulty speaking or forming meaningful words
•    Losing balance and coordination
•    Dizziness
•    A severe, inexplicable headache

Additionally, these symptoms are specific to women:
•    Nausea and vomiting
•    Seizures
•    Hiccups
•    Labored breathing
•    General weakness and pain
•    Loss of consciousness

All stroke symptoms tend to appear suddenly and in full force.

What can you do if you’re having a stroke?

The first thing you should do if you think you’re having a stroke is call 911 immediately. Tell the operator that you suspect you’re having a stroke. 911 operators are often trained to suspect that a caller with slurred speech has a stroke, so even if they don’t understand you, they may be able to send help.

While there is little you can do when you’re having a stroke, there are ways to better prepare for it:

If you’re in the risk group of having a stroke, you should consider getting a wearable medical alarm button. Seeing as how complex motor functions and communication might be impaired by a stroke, preventing you from effectively placing a call to 911, having a one-click solution that will send help your way can be invaluable in saving time- and your life.

Several apps in your app store, such as SirenGPS (iOS, Android) can also serve as an emergency button, sending out your location information to family members who have the app installed, and informing them you made a call to 911. They will then be able to pass along your location to the first responders, who will be able to get to you more swiftly.

No one can anticipate a stroke, but being prepared for it in advance could mean the difference between life and death.

Consider printing out these first aid instructions for a stroke emergency, which include step by step care, medical and contact information, which you can give to the nearest person in case you think you’re having a stroke. 

 

I think I’m having a stroke

·       Call 911 right now and make sure to tell them I’m having a stroke. Mention any symptom I’m exhibiting: droopy face, loss of balance, my leg or arm won’t move, or I am speaking incoherently.

·       Clear some space for me and lay me down gently on one side with my head propped up.

·       If I’m having problems breathing, give me CPR.

·       Keep cool and try to calm me down and reassure me.

·       Cover me up, if possible.

·       Do NOT give me any food or water.

My name is                             , and I am taking the following medication:

I am allergic to the following:

Please call my emergency contact on this number:                   and appraise them of my situation.

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