A Potential New Approach to the Treatment of Retinitis Pigmentosa

In a recently published study (1), researchers at the Columbia University Medical Center (CUMC) have come up with a novel approach in developing an individualized treatment for RP patients, using the patients' own cells transformed into an in vitro model for studying the disease and developing a potential treatment.

While RP can begin during infancy, the first symptoms typically emerge in early adulthood, starting with night blindness. As the disease progresses, affected individuals lose peripheral vision. In later stages, RP destroys photoreceptors in the macula, which is responsible for fine central vision. RP is estimated to affect at least 75,000 people in the United States and 1.5 million worldwide.

Mark Hillen, editor of The Ophthalmologist has written about this new approach, and I have reproduced the writeup, with his permission.

The Retina, Renewed. Thanks to Your Own Skin Cells

Might you soon take a skin cell from a patient with retinitis pigmentosa, roll it back to a pluripotent state, culture it to become retinal cells and trial gene therapy on it in vitro?

By Mark Hillen

The Ophthalmologist, July/August 2014

Personalized medicine is a particularly hot topic in medicine. Take cells from a patient, modify or grow them, and return them to the patient for their therapeutic effects. What a team of Manhattan-based researchers are doing at the Columbia University Medical Center (CUMC) is something rather special. They take skin epithelial cells from patients with retinitis pigmentosa (RP), turn them into induced pluripotent stem (iPS) cells, then differentiate them into retinal cells in cell culture, enabling them to examine what the structural and functional defects of these retinal cells really are - without having to perform a dangerous (and ethically dubious) excision of a section of a patient's retina to do so (1).

More than 60 different genes have been linked to RP, making it a challenge to go to a mouse model to study the disease. Making a genetically-modified mouse is time consuming enough, but there's the additional confounding factor that the retinae of mice and men have enough interspecies differences to induce a great depression in researchers. This is why the ability to study the patient's own retinal cells in culture is so valuable.

Using this approach, the CUMC researchers examined cells from a patient with RP that resulted from a mutation in the MFRP (membrane frizzled-related protein) gene. Analysis of these cells showed that the primary effect of MFRP mutation is to disrupt the regulation of the major cytoskeletal protein, actin (Figure 1). "Normally, the cytoskeleton looks like a series of connected hexagons," said lead researcher, Stephen Tsang. "If a cell loses this structure, it loses its ability to function."

In the next phase of the study, the CUMC team used adeno-associated viruses to introduce normal copies of MFRP into the iPS-derived retinal cells (in cell culture), successfully restoring the cells' function. The team went on to successfully use gene therapy to rescue the "normal" phenotype in mice with MFRP mutation-induced RP.

Does this herald a future of personalized medicine, where patients can have their retinae reproduced from skin cells, their disease state assessed, and potential gene therapy options trialled, all in vitro, in order to choose the most effective gene therapeutic option? Tsang believes so, concluding that, "The use of patient-specific cell lines for testing the efficacy of gene therapy to precisely correct a patient's genetic deficiency provides yet another tool for advancing the field of personalized medicine. iPS cells can help us determine whether these genes do, in fact, cause RP, understand their function, and, ultimately, develop personalized treatments."

Figure 1. a. Normal (wild-type) retinal cells: the protein actin forms the cell's cytoskeleton, creating an internal support structure that looks like a series of connected hexagons; b. This structure fails to form in cells with MFRP mutations, compromising cellular function; c. Diseased retinal cells, when treated with gene therapy to insert normal copies of MFRP, have normal-looking cytoskeletal structures and function.

Reference

1. Y. Li, W.-H. Wu, C.-W. Hsu, et al., "Gene Therapy in Patient-specific Stem Cell Lines and a Preclinical Model of Retinitis Pigmentosa With Membrane Frizzled-related Protein Defects", Mol. Ther. Epub ahead of print (2014). doi:10.1038/mt.2014.100.

What To Consider In Pulmonologist New York

By Lucia Weeks

Our bodies are not perfect, and chances of falling ill is so high that we do all we can to remain healthy. Sometimes things do not go as we wish to, and the body will not work as it is intended to. When someone gets any infections or conditions in their respiratory organs, they should seek medical right away. Getting the right person to treat the disease is not that easy because there are many doctors, but most of them have not specialized in this condition. This is where the Pulmonologist New York comes in and gives the best remedies.

Falling ill is not something that you can plan for because it is painful and cash consuming. However, when you find a good person to attend to you, you will be on your way to recovery within no time. The following factors are meant to help you choose the most qualified person in this industry so as to maintain a good health life.

The first consideration is the quickness to handle your situation. Some doctors are known to take their sweet time to attend to the patients, and this is not professional as they put the life of the patients at risk. It is a good thought to ensure they are well known to offer prompt services if you want to maintain a good health and live longer.

When seeking the required services, it is vital to know where they are located. Sometimes the attacks in this condition may be severe, and it is very frustrating to seek help from someone far away from your place. It is important to know they are easily reachable in order to give you the care needed.

Since the condition requires much expertise, the right machines and equipment will go a long way in making you better. When visiting the clinics, it is wise to find out if they are well equipped with the latest facilities to treat you. Any specialist that is well invested the modern technology will come up with the best diagnosis and treatments.

In some situations, it is possible to have some conditions that will require maximum supervision in order to know if the patient is getting better. One cannot do this with super monitoring of the patients from their homes. To make things easier and fine, the doctor should have in-patient facility so at to give them the required attention.

In every professional, there must be insurance cover to show that they mind the safety and health matter of the patients. The doctor should also be registered with multiple covers so that their patients can be able to cater for the medical bills. Working with these kinds of experts will prove to you that they are the most trusted people in town.

The aspect of working with someone that you can rely on, and trust is very important. A good doctor will make sure the patient is comfortable enough to reveal their past medical history. Without doing this, it will be hard to get medical attention that you deserve because you are not sure whether you are working with the person.

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3 Ways To Approach The New Year With Island Christian Church

By David Kellan

There's quite a bit of excitement that comes with the approaching nature of the new year. Even though 2015 has been eventful for a number of ways, many people might see 2016 as a way to reinvent themselves. Island Christian Church can attest to this, but there are certain steps that you should take. As a matter of fact, here is a series of 3 steps that you would be wise to follow, ensuring a greater quality of life for yourself in the long run.

One of the ways you can make 2016 the best year for yourself is to attend service more often. Names such as Island Christian Church have been able to help people in this way, offering them spiritual healing and simply a way to elevate their spirits. You do not necessarily have to be an Island Christian school student to know how valuable this practice can be. Take part in it, and you'll see just how much of an impact it can have.

Exercise might be another goal to focus on for 2016. To say that this goal matters would be an understatement, especially for those who aren't typically active during their daily lives. While many people make consistent exercise their resolutions, it's fair to assume that not everyone follows up on this. In order to make your year the best that it can be, this is one of the most valuable endeavors that you should see to the end.

Finally, spend more time with your family and loved ones. With so many tools that we have at our leisure, computers and smartphones included, it's easy to lose sight of what's most important. Even though the aforementioned tools matter, according to any Long Island marketing company, this doesn't mean that one's life should revolve around these. Focus on time spent with those close to you, as this will make 2016 more worthwhile for you.

When it comes to the ways to approach the new year, the methods discussed earlier are nothing short of effective. Island Christian Church can attest to this, especially when they can play into a greater quality of life for any individual. You might have seen 2015 as a great year for yourself, which is nothing short of commendable. There's always room for improvement, though, so make sure that the previous talking points are taken into account for the new year.

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For information regarding Christian churches and campuses in your area, go to Island Christian Church now.

Tips On How To Get The Best Downton New York Nutritionist

By Lora Jones

Finding a reliable Downton New York nutritionist can be quite a difficult task especially if you do not know where to start from. There are so many things you need to put into consideration which makes it even more difficult to choose a particular nutritionist. This is more about personal preference but there are a few guidelines that can lead you to the right person.

Experience is one of the most important factors you need to look out for. It goes without saying that you are better off with an experienced nutritionist compared to one who has just completed their training. The latter is more likely to have a better understanding of the profession on account of the number of cases handled as well as years worked.

A good tactic is to start by creating a list of potential candidates and shortlist them until you get the best nutritionist. You can get the names through referrals either from friends or colleagues. A complete stranger can also be very helpful if they can recommend a particular service provider who is reliable and competent enough to offer goo service.

Based on the fact that nutritionists deal with health issues, you need to be very keen about their credentials. Ensure that they are qualified to offer such services. This is relatively easy to do given that most records are usually available to the public. It is also one of the most important steps during the vetting process.

Price is another factor you should consider very carefully. It goes without saying that you need to try and work with a budget. Ask the expert to give you a quotation of the total amounts you are expected to pay before making the hiring decision this gives you the chance to compare with other service providers in the industry.

Do a background check on the service provider so that you can find out what other people have to say. This is where the internet comes in. You are able to do a lot within a very short time. In fact, web access enables you to get information from sources all over the world irrespective of your time zone or geographical location.

An interview can also be a very good way to get information about the nutritionist. It is also quite convenient in that you get the opportunity to check on personal attributes of the service provider. The whole idea is to meet in person and make an assessment whether the individual can meet all your expectations.

Once you have followed the simple guidelines getting a good Downton New York nutritionist should not be such a difficult task. It all boils down to paying attention to detail and being thorough during the selection process. In fact, you should be prepared with a list of how you expect the nutritionist to be in terms of service delivery. This should guide you through as you choose the best among many.

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You can visit the website mycompassnutrition.com for more helpful information about Tips On Getting The Best Downton New York Nutritionist