Category Archives: Transhuman News

chairoij/ShutterStockImagine having your spleen removed, undergoing a double hip replacement, and receiving monthly blood transfusions to prevent severe pain attacks, all by the age of 13. That was the life of a teenager in France with sickle cell disease (SCD) until October 2014, when he received experimental gene therapy as part of a clinical study. Now, hes completely off all medications and his SCD is essentially gone, making him the hopeful poster child for the worlds first effective sickle cell disease therapy. (Dont these medical miracles that doctors cant explain.)

Standard treatments were not able to control his SCD symptoms [but] since receiving the stem cell transplant with LentiGlobin, he has been free from severe symptoms and has resumed normal activities, without the need for further transfusions, said study author Marina Cavazzana, MD, PhD, of Necker Hospital in Paris, France, where the trial was conducted, in a news release.

SCD is a inherited blood disorder where sufferers have sickle hemoglobin, an abnormal form of the oxygen-carrying protein which changes the shape of red blood cells (from a flexible disc shape to a rigid crescent one), making it hard for them to pass through blood vessels and often causing blockages that slow or stop the flow of oxygen-rich blood to nearby tissues, causing sudden and severe pain. Sickled red blood cells also die after 10 to 20 days, compared to normal ones which can live up to 120; this can cause the body to have trouble keeping up with red blood cell production, leading to anemia. A stem-cell transplant is currently the only curative option for patients, but fewer than 18 percent of patients are able to find a matching donor.

That is until now. The 13-year-old boy (known as Patient 1204) had bone marrow extracted, which was then genetically altered with the drug LentiGlobin BB305 so that his body made normal, healthy red blood cells instead of the sickle cells it was creating before. After just six months, the proportions of sickled red cells in his blood were significantly lower than those in untreated SCD patients. Now more than 15 months since the treatment, his body is still producing normal red blood cells and he hasnt experience any SCD-related episodes or hospitalizations, according to the study published in the New England Journal of Medicine.

Ive worked in gene therapy for a long time and we make small steps and know theres years more work. But here you have someone who has received gene therapy and has complete clinical remissionthats a huge step forward, Deborah Gill, PhD, of the gene medicine research group at the University of Oxford in England told BBC.

Scientists plan to test the drug on other sickle cell disease patients to see if the results are replicated.

MORE: This Grandmother Beat Cancer in a Groundbreaking 20-Minute Treatment

Originally posted here:
Teen's Sickle Cell Disease Reversed - Reader's Digest - Reader's Digest

March 10, 2017 From left to right, the experts Susana Balcells, Daniel Grinberg and Roser Urreizti at the Faculty of Biology of the University of Barcelona

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and 60 people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discovering the genetic bases of this syndrome which, so far, has no treatment, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a wide group of experts of the Center for Genomic Regulation (CRG) and the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation p.Q638 located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston," says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome."

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease."

"All these clinical doubts continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them."

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective," concluded the researcher.

Explore further: Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome

More information: Roser Urreizti et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes, Scientific Reports (2017). DOI: 10.1038/srep44138

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Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex ...

The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference. A genetic ...

A group of researchers from Pakistan, Europe and Singapore have identified and characterised a previously undiscovered rare deafness-dystonia syndrome in a family living in a remote region of Pakistan. The research, published ...

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy. The research was published in the ...

Recent study out of the University of Ottawa opens door for new disease therapies in cancer, ALS, Fragile X Syndrome and others.

An unusual case of a rare anemia is opening scientists up to a new way of thinking about how to adapt and employ cytokines, messenger molecules of the blood and immune system, as tools for treatmenttools that are more ...

Cells face a daunting task. They have to neatly pack a several meter-long thread of genetic material into a nucleus that measures only five micrometers across. This origami creates spatial interactions between genes and their ...

By the time they turn 50, half of European men have some degree of hair loss. For many, it will begin far earlier than that, and yet male pattern baldness is poorly understood.

A component of vertebrate neurons known as the axon initial segment (AIS) that is responsible for regulating the nerve cell's output has long been thought by scientists to have evolved relatively recently, and specifically ...

Researchers have uncovered new genetic clues to understanding IgA nephropathy (IgAN), or Berger's disease, an autoimmune kidney disease and a common cause of kidney failure. The findings are relevant to IgAN as well as other ...

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Researchers find a gene that causes Opitz C syndrome - Medical Xpress

CHAMBERSBURG, Pa. - Virdis Medicine, a medical marijuana dispensary, has been working with the borough in Chambersburg in hopes to one day come to town.

Karen Diller is a loving mom who will do anything for her daughter 20 year-old daughter Karly.

Karly has CDKL5, a rare genetic disorder, which means her body is missing a gene and can not produce the protein that talks to her cells. As a result, Karly doesn't have the use of her hands or the ability to talk.

It started a whole bunch of testing and doctor visits and to no avail we could not find out what was wrong and there was no way to help her, said Diller, a Chambersburg resident.

Karly has had seizures ever since she was two weeks old. Diller says they tried different types of medicine and nothing worked until two-years-ago when they went to Langone University Hospital in New York City. Karly was given a CBD oil, a medical marijuana product.

It has lowered her seizures from multiple seizures a day to 60 to 70 percent fewer seizures, she now has days and consecutive days in a row without seizures, said Diller.

The trial in New York has been great, but the drive to New York from Chambersburg is five hours one way.

I don't know how long we're going to be able to continue the drive to New York City and how long she will actually be eligible for this trial, so Im very supportive of Virdis Medicine coming to Chambersburg, said Diller.

In addition to reducing seizures,CBD oil has made Karly calmer and better able to function. Diller says she will continue to advocate for Virdis Medicine.

I feel that could give so many people a better quality of the days that they have here, just like its helping her and I think we have to try, said Diller.

More:
A Chambersburg resident shares how Medical Marijuana has had a major impact on her daughter - WHAG