Genetic Medicine:

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Scientists find a striking number of genetic changes can occur early … – Medical Xpress

February 24, 2017 Dr. Pengfei Liu holding human DNA treated with fluorescent dyes prepared for copy number variant analysis. Credit: Baylor College of Medicine

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code can occur spontaneously, as a mutation, causing developmental problems. Others, as an international team of researchers has discovered, are too numerous to be explained by random mutation processes present in the general population. When such multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases. The study appears in Cell.

“As a part of the clinical evaluation of young patients with a variety of developmental issues, we performed clinical genomic studies and analyzed the genetic material of more than 60,000 individuals. Most of the samples were analyzed at Baylor Genetics laboratories,” said lead author Dr. Pengfei Liu, assistant professor of molecular and human genetics Baylor College of Medicine and assistant laboratory director of Baylor Genetics. “Of these samples, five had extreme numbers of genetic changes that could not be explained by random events alone.”

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA. Normally we each have two copies of each gene located on a pair of homologous chromosomes.

“Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book,” said senior author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. “For instance, if one or two pages are duplicated in a book it could be explained by random mistakes. On the other hand, if 10 different pages are duplicated, you have to suspect that it did not happen by chance. We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome.”

A rare, early and transitory phenomenon that can affect human development

The researchers call this phenomenon multiple de novo copy number variants. As the name indicates, the copy number variants are many and new (de novo). The latter means that the patients carrying the genetic changes did not inherit them from their parents because neither the mother nor the father carries the changes.

In this rare phenomenon, the copy number variants are predominantly gains duplications and triplications rather than losses of genetic material, and are present in all the cells of the child. The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent’s germ cells, and before or very early after fertilization.

“This burst of genetic changes happens only during the early stages of embryonic development and then it stops,” Liu said. “Interestingly, despite having a large number of mutations, the young patients present with relatively mild neurological problems.”

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

“We hope that as more researchers around the world learn about this and confirm it, the number of cases will increase,” Liu said. “This will improve our understanding of the underlying mechanism and of why and how pathogenic copy number variants arise not only in developmental disorders but in cancers.”

A new era of clinical genomics-supported medicine and research

This discovery was made possible in great measure thanks to the breadth of genetic testing performed and genomic data available at Baylor Genetics laboratory.

“The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research,” Lupski said. “They are developing the clinical genomics necessary to foster and support the Precision Medicine Initiative of the National Institutes of Health, and generating the genomics data that further drives human genome research.”

Using state-of-the art technologies and highly-trained personnel, Baylor Genetics analyzes hundreds of samples daily for genetic evaluation of patients with conditions suspected to have underlying genetic factors potentially contributing to their disease. Having this wealth of information and insight into the genetic mechanisms of disease offers now the possibility of advancing medicine and basic research in ways that were not available before.

“There is so much that both clinicians and researchers can learn from the data generated in diagnostic labs,” Liu said. “Clinicians receive genomic information that can aid in diagnosis and treatment of their patients, and researchers gather data that can help them unveil the mechanisms underlying the biological perturbations resulting in the patients’ conditions.”

Explore further: Largest study of its kind finds rare genetic variations linked to schizophrenia

More information: An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell, DOI:

Journal reference: Cell

Provided by: Baylor College of Medicine

Many of the genetic variations that increase risk for schizophrenia are rare, making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan …

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The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code …

A research team from the United States and Canada has developed and successfully tested new computational software that determines whether a human DNA sample includes an epigenetic add-on linked to cancer and other adverse …

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Scientists find a striking number of genetic changes can occur early … – Medical Xpress

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Gene mutations in brain linked to OCD-like behavior – Medical News … – Medical News Today

Researchers provide further evidence of how gene mutations in a certain brain region might fuel behaviors associated with obsessive-compulsive disorder. The findings could pave the way for new treatments for the condition.

Obsessive-compulsive disorder is a condition characterized by uncontrollable thoughts, obsessions, and compulsions.

Obsessions include repetitive thoughts or mental images that trigger anxiety, while compulsions refer to the urge to repeat certain behaviors in response to obsessions. Common examples of compulsions include excessive hand-washing, arranging items in a particular way, and compulsive counting.

OCD is estimated to affect around 1 percent of adults in the United States. Of these adults, 50 percent have severe OCD, which can significantly interfere with daily life.

While the precise causes of OCD are unclear, previous studies have suggested that the disorder may be caused by specific gene mutations.

In the new study, researchers from Northwestern University in Chicago, IL, have pinpointed gene mutations in the corticostriatal region of the brain that led to OCD-like behaviors in mice.

Lead author Anis Contractor, associate professor of physiology at Feinberg School of Medicine, and colleagues recently reported their findings in the journal Cell Reports.

In humans and mice, the corticostriatal brain region is responsible for regulating repetitive behavior. “People with OCD are known to have abnormalities in function of corticostriatal circuits,” notes Contractor.

By analyzing this brain region in mice, Contractor and colleagues identified a number of synaptic receptors – called kainate receptors (KARs) – that play a key role in the development of the corticostriatal region.

The researchers then set out to investigate whether disrupting KAR genes in mice – thereby eliminating KARs – might induce repetitive behavior in the rodents. They found this was the case.

Mice whose KAR genes were erased displayed a number of OCD-like behaviors, such as over-grooming and repeatedly digging in their bedding.

The team says these findings provide further evidence that KAR genes play a role in OCD in humans, and a possible biological mechanism.

“A number of studies have found mutations in the kainate receptor genes that are associated with OCD or other neuropsychiatric and neurodevelopmental disorders in humans.

I believe our study, which found that a mouse with targeted mutations in these genes exhibited OCD-like behaviors, helps support the current genetic studies on neuropsychiatric and neurodevelopmental disorders in humans.”

Anis Contractor

The team suggests that in the future, KAR genes could be a target for the development of new drugs to treat OCD.

Learn how exposure therapy might help treat people with OCD.

Gene mutations in brain linked to OCD-like behavior – Medical News … – Medical News Today

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Fasting-mimicking diet may reverse diabetes – Science Daily

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Fasting-mimicking diet may reverse diabetes
Science Daily
The fasting-like diet promotes the growth of new insulin-producing pancreatic cells that reduce symptoms of type 1 and type 2 diabetes in mice, according to the study on mice and human cells led by Valter Longo, director of the Longevity Institute at
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Laser Therapy Health & Wellness Center, Inc Hallandale, Florida Expands Innovative Ways To Improve Health For … – PR Newswire (press release)

About Functional Medicine Of total healthcare costs in the United States, more than 75% is due to chronic conditions. The key to reversing the rapidly spreading epidemic of chronic disease is to address the underlying causes and solutions for chronic disease, which are primarily driven by the lifelong, daily interaction among an individual’s genetics, environment, and lifestyle choices. Functional medicine not only incorporates the latest in genetic science and systems biology, but it also enables health care practitioners to practice proactive, predictive, personalized medicine while empowering patients to take an active role in their own health. Kristan Weinstein-ANP-BC, is uniquely trained in the functional medicine model to identify and treat the root causes of chronic disease. In order to achieve the designation of A4M- Certified Practitioner, Kristan has completed 7 onsite training seminars and passed stringent written and case study evaluations. Weinstein joins an elite group of practitioners who fully certified in functional medicine

About A4MThe American Academy of Anti-Aging Medicine (A4M) is a US federally registered 501(c) 3 non-profit organization comprised of over 26,000 members including: physicians, health care practitioners, scientists, governmental officials, and members of the general public, representing over 120 nations.

The A4M is dedicated to the advancement of technology to detect, prevent, and treat aging related disease and to promote research into methods to optimize the human aging process. The A4M is also dedicated to educating physicians, scientists, and members of the public on biomedical sciences, breaking technologies, and anti-aging issues.

The A4M is comprised of over 26,000 members from 120 nations worldwide.

Expansion Phase for Timeless Age MedicalLaser Therapy Health & Wellness Center, formerly Laser Therapy Spa, LLC and, Inc has been in business over five years with over six thousand patients to date. With the expansion and upcoming launch of “Timeless Age Medical Group” we plan on serving our patients with the latest 21st century evidence based patient care well into future. Patient health and patient outcome remain our primary concern.


Laser Therapy Health & Wellness Center, Inc (DBA) Timeless Age Medical, Group, Inc 800 East Hallandale Beach Blvd. Suite 15 Hallandale, Florida 33009


Randi Gold

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More than 200 people climb Corning Tower in support of Cystic Fibrosis – NEWS10 ABC

ALBANY, NY (NEWS10) Ten years Steve Burnell, from District 3 Fire Department, unfortunately died due to Cystic Fibrosis. His wife gave me his helmet and asked me to the top, said Kyle Murphy.

Kyle Murphy had a lot of company; Dozens up firefighters from all over the Capital Region ran up to the top of the Corning Tower in full uniform in support of the Cystic Fibrosis Foundation. They weight about 50 pounds each, 42 flights of stairs, just think about that.

According to my camera I think I had link 18 minutes, and last year I did it in like 19 so it was a little bit better but it was still rough, said Murphy.

Over 200 people registered to climb those 809 stairs, some people supporting because they know just how bad Cystic Fibrosis can be.

As you get older your lunges deteriorate more and it makes it harder to breathe. And ultimately in the end youre in and out of the hospital so many times to try and clear up the lung infections. The disease also effects your digestive system, so most of the children are very thin, said Nancy Carroll, a 42-year volunteer of the Cystic Fibrosis Foundation.

Nancy Carroll who lost her son and others that lost loved ones to this illness went around and around, floor after floor; climbing to the observation deck, its a challenging race.

It is warm in the hallways making it hard to breathe. Some people felt winded at times but never stopped. They had supporters cheering them on and Nancy Carroll says thats how we beat this thing, get everyone on one accord.

Theres a cure around the corner, Im very confident of that. So support all you can, if someone asks for a donation for something theyre doing, please give from your heart its very, very important because the money leads to researchand thats what we need right now, said Carroll.

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More than 200 people climb Corning Tower in support of Cystic Fibrosis – NEWS10 ABC

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