Artist with rare disease (RareArtist)

Hi, everyone!

I participate in the contest RareArtist (artist with a rare disease). For this competition I have prepared my art work "The Start". The theme of my paintings is the desire for a better life despite the difficult disease.

I very much hope that with your help I can be a winner.

Help me with this, click on the Like for Monika Lemeshonok herehttps://www.facebook.com/RareArtistorg-169101479780640/app/512541485429310/

This money will be spent on my medical examination before spine surgery.

SEND YOUR 5$ FOR MONIKA!

Today we have a charity quiz! Each member of this community can help Monika Lemeshonok to come quickly to a medical examination in Italy.
Each member of the community who will give 5$ donations, save lives and health of Monika.

SEND YOUR 5$ FOR MONIKA!

https://www.facebook.com/groups/needhelpmonika/

104 visits for my blog!

I have good news today! During the last day of the number of visits to my blog has reached 104 people. Thank you very much to all who watch and read the news of my blog every day. 4 continents around the world are watching this blog all the time. I am very happy about it!
I am very grateful to all who love me and do not forget me, this often depends on our health and well-being.

I will be always with YOU.

Yours Monika Lemeshonok & Believe in miracle

AveXis Receives U.S. FDA Breakthrough Therapy Designation for AVXS-101 Gene Replacement Therapy for Spinal Muscular Atrophy Type 1

WOW, INCREDIBLE NEWS!!!

AveXis, Inc., a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases, today announced the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation for AVXS-101, the company’s lead development candidate for the treatment of spinal muscular atrophy (SMA) Type 1 in pediatric patients.

The Breakthrough Therapy Designation is based on preliminary clinical results from the ongoing trial of AVXS-101, conducted in collaboration with The Research Institute at Nationwide Children’s Hospital and The Ohio State University.

“We are encouraged to have received Breakthrough Therapy Designation for AVXS-101, and look forward to collaborating with the FDA to determine next steps in the development pathway for AVXS-101,” said Sean P. Nolan, president and chief executive officer, AveXis. “By this action the FDA recognizes the high unmet need for effective treatment options for patients suffering from SMA.”

The FDA has requested the company submit a Type B meeting request for a multidisciplinary, comprehensive discussion of the development program for AVXS-101. The company plans to submit the meeting request later this month.
About Breakthrough Designation

“Breakthrough therapy” is a designation that allows the FDA to expedite drug development. In order to be granted breakthrough designation, a drug must be used to treat a serious or life-threatening disease, and the early evidence from clinical trials of that drug must show evidence that it may provide substantial improvement. Prior studies have shown that breakthrough designation can shorten the development timeline of a drug by as much as two years. AVXS-101 is the first SMA drug program to be granted breakthrough designation.

Along with other designations, such as fast-track, breakthrough therapy is available for conditions including SMA, where there is a significant unmet need for effective therapies. To learn more about the different types of expedited review that are available, refer to that section of our clinical trials booklet, or download the full booklet to learn more about the entire clinical trial process.
Cure SMA Funds Multiple Gene Therapy Approaches

Beginning in 2010, Cure SMA made a series of grants to Nationwide Children’s Hospital to study gene therapy, also called gene transfer. SMA is caused by a mutation in the survival motor neuron 1 gene (SMN1). Because of this mutation, the individual does not produce enough survival motor neuron (SMN) protein.

Gene transfer may increase SMN levels by using a virus, called a vector, to deliver the SMN1 gene to affected cells. Currently, two approaches are being studied. The first is an injection into a vein, known as systemic delivery, which is the process being tested in the AVXS-101 trials.

A second method being investigated delivers the drug directly into the cerebrospinal spinal fluid (CSF), a process known as CSF-delivered gene therapy. CSF-delivered gene therapy has shown promise for reducing the amount of drug required for larger and older patients. This could eventually make the treatment accessible to a wider population.

In total, Cure SMA has granted $845,000 for gene therapy, including support for both the systemic program and the CSF program, to Nationwide Children’s Hospital and Ohio State.

All, who know me and see this message now!

All, who know me and see this message now!

In a short time I need medical consultation and examination before scoliosis surgery in Italian clinic ISTITUTO ORTOPEDICO RIZZOLI. Every day I have a strong deterioration in the back and so I can not write every day here. Therefore, I ask your help. It depends on my health.

Need medical orthopedic consultation in ISTITUTO ORTOPEDICO RIZZOLI, Bologna

It is necessary to charitable funds: 1200 €

https://www.facebook.com/groups/needhelpmonika/

Help all who see this is my message!

Help all who see this is my message!

In October 26 I will be in consultation with a doctor in ISTITUTO ORTOPEDICO RIZZOLI in Bologna. In this consultation the doctor will decide whether to hold my scoliosis surgery and prescribe further medical examination for me. I need to collect charitable funds so that I could go to this consultation. It is important for me because it affects my health.

I need your help!

https://www.facebook.com/groups/needhelpmonika/

Study Identifies Study Identifies

Researchers at the National Tsing Hua University in Taiwan discovered seven new genes affecting severity and time of onset of spinal muscular atrophy (SMA). The finding offers researchers clues for what molecules to target in new drug development attempts.

The study, “An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy,” recently published in the journal PLOS ONE, showed that in more severe disease among mice, expression of all seven genes was altered, while only some were involved in milder disease.

The genetic deficiency in SMA — two mutated copies of the SMN1 gene — might be partially rescued by the SMN2 gene, giving rise to a small amount of functional SMN protein. Individuals carrying more copies of SMN2 tend to have less severe disease, but this correlation does not apply to all patients.

In addition, drugs increasing SMN production did not lead to the improvement in symptoms that researchers expected, suggesting that other genes might contribute to disease processes. Searches for such genetic modifiers have led to highly variable findings.

To get a clearer picture of potential genes modifying SMA disease mechanisms, the research team combined analyses of previously published genetic studies with analyses of molecular networks. Using data from 39 previous microarray studies investigating genetic associations to SMA across four human cell types, researchers discovered seven genes that were linked to the disease.

The genes, known to affect regulation of the inflammatory factor TNF-α, are also crucial during the development of the heart, nervous system, and bones.

Researchers then turned to two mouse models, mirroring type I and III SMA, to verify the genes. It turned out that in the spinal cord, none of the of the genes were altered at birth in mice with the more severe infant type I disease. After eight days, representing a stage where mice had developed symptoms, instead, all seven were altered. Analyzing heart, muscles and bone tissues from the mice gave similar results.

In the type III mice, characterized by a later onset, some of the genes were altered at six months, a stage characterized by mice having mild symptoms. The findings show that the genetic pathways contribute to the different times of onset and severity seen in SMA.

Studies exploring how the seven factors contribute to different aspects of the disease will likely provide researchers with clues needed to develop new drugs for SMA. Currently, no effective therapy exists for SMA.