Category Archives: Gene Medicine

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Rocky Hill Obituary: Dr. Eugene Rotatori, 84 Patch.com Board certified in both internal medicine and insurance medicine, Gene was a member of the Hartford County Medical Society (serving as president in 1990), Hartford County Medical Association, and American Academy of Insurance Medicine. He was also a ...

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Rocky Hill Obituary: Dr. Eugene Rotatori, 84 - Patch.com

NEW YORK (GenomeWeb) Before the National Institutes of Health can begin to genetically test participants within its precision medicine initiative, it will have to figure out what results to return, how to minimize reporting false positives, and how to provide counseling to help them navigate the often uncertain and evolving evidence on genetic information.

And the project will have to figure out how to do all this on an unprecedented scale, for a million participants that the All of Us Research Program hopes to enroll over the next four years.

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Precision Medicine Project Mulls How to Return Genetic Test Results to 1M Participants - GenomeWeb

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

March 9, 2017 In the Department of Genomics at the Life & Brain research center: Dr. Andreas Forstner (seated at the front), associate professor (Privatdozent) Dr. Rupert Conrad and psychologist Stefanie Rambau. Credit: Katharina Wislsperger/UKB-Ukom

People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet. Around one in ten people is affected by this anxiety disorder over the course of their life. Researchers at the University of Bonn have now found evidence for a gene that is believed to be linked to the illness. It encodes a serotonin transporter in the brain. Interestingly, this messenger suppresses feelings of anxiety and depressiveness. The scientists want to investigate this cause more precisely and are thus looking for more study participants. The results will be published in the journal Psychiatric Genetics.

Heart palpitations, trembling and shortness of breath: those who suffer from social phobia avoid larger groups. Verbal tests or everyday arrangements are filled with fear - after all, other people could make a negative judgement. Those affected often avoid such situations for this reason. Contact is often easier over social media or anonymously over the Internet. Social phobias are among the psychiatric disorders that are triggered simultaneously by genetic and environmental factors. "There is still a great deal to be done in terms of researching the genetic causes of this illness," says Dr. Andreas Forstner from the Institute of Human Genetics at the University of Bonn. "Until now, only a few candidate genes have been known that could be linked to this."

Individual base pairs can vary in the DNA

Together with the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at the University Hospital Bonn, Dr. Forstner is conducting a study into the genetic causes of social phobia. The research team investigated the DNA of a total of 321 patients and compared it with 804 control individuals. The focus of the scientists lay on what are known as single nucleotide polymorphisms (SNPs). "There are variable positions in the DNA that can exist to various degrees in different people," explains Dr. Forstner.

The cause of genetic illnesses often lies in the SNPs. It is estimated that more than thirteen million such changes exist in the human DNA. The scientists investigated a total of 24 SNPs that are suspected in the widest sense of being the cause of social phobias and other mental disorders. "This is the largest association study so far into social phobia," says associate professor (Privatdozent) Johannes Schumacher from the Institute of Human Genetics at the University of Bonn.

Patients provided information about their symptoms

Over the course of the study, scientists at the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at the University Hospital Bonn will ask the patients about their symptoms and the severity of their social phobia. Their DNA is also examined using a blood sample. Whether there is a link between the signs of the illness and the genes is being investigated by the scientists using statistical methods. The evaluation of the previously collected data indicated that an SNP in the serotonin transporter gene SLC6A4 is involved in the development of social phobia.

This gene encodes a mechanism in the brain that is involved in transporting the important messenger serotonin. This substance suppresses, among other things, feelings of fear and depressive moods. "The result substantiates indications from previous studies that serotonin plays an important role in social phobia," says associate professor (Privatdozent) Dr. Rupert Conrad from the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy. Medications that block serotonin reuptake and increase the concentration of the messenger in the tissue fluid in the brain have already long been used to treat anxiety disorders and depression.

Subjects can participate in expanded study

The scientists now want to investigate more closely what the links are between the DNA and social phobia. "In order to achieve this goal, we need many more study participants who suffer from social anxiety," says the psychologist and study coordinator Stefanie Rambau from the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at University Hospital Bonn. Information about the study is available at http://www.SocialPhobiaResearch.de. "Those who take part will help to research social phobia. This is the basis of better diagnosis and treatment procedures in the future," says Stefanie Rambau.

Explore further: Psychotherapy normalizes the brain in social phobia

More information: Andreas J. Forstner et al, Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety, Psychiatric Genetics (2017). DOI: 10.1097/YPG.0000000000000171

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Social phobia: Indication of a genetic cause - Medical Xpress

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

CWC27 is a new disease-associated gene, said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago, said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient.

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision, Xu said.

When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27, Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions, Xu said. To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patients CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function.

This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes, Xu said. Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases.

Seea complete list of authors and their affiliations and the financial support for this project.

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Mutations in CWC27 result in spectrum of conditions - Baylor College of Medicine News (press release)

Science Daily

Study parses influence of genes, environment in metabolic disease Science Daily By comparing two strains of mice -- one that becomes obese and diabetic on a high-fat diet and another resistant to a high-fat regimen -- researchers from the Perelman School of Medicine at the University of Pennsylvania identified genome-wide changes ...

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Study parses influence of genes, environment in metabolic disease - Science Daily