Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 26
My Sims 3 Page: http://mypage.thesims3.com/mypage/Llandros2012 My Blog: http://Llandros09.blogspot.com My Facebook: https://www.facebook.com/Llandros09?ref=t...

By: Llandros09

Link:
Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 26 - Video

Recommendation and review posted by Bethany Smith

Local Search Results

You arrived here after searching for the following phrases:

Click a phrase to jump to the first occurrence, or return to the search results.

The first private Medical Genetics Center in Romania, an investment worth more than two million Euros, was launched in Bucharest yesterday, during the conference entitled Personalized Medicine New Prospects for the Romanian Patien, Agerpres informs. The Center is part of the World Map of Next Generation Sequencers, a world network including the centers that use high-capacity genomic sequencer platforms, it has four floors totalling 650 square meters and offers integrated services of examination and genetic testing. The Microarray NimbleGen platform equipping the Personal Genetics medical genetics center is yet another unique initiative in the Romanian private medical sector, with major use in the prenatal and postnatal diagnosis, said Dr Bogdanka Militescu, the Genetics Center managing director. The Center is structured by two departments, molecular biology and cyto-genetics respectively and it also offers genetic and psychological counselling. The expertise of the molecular biology department is divided into three categories of tests: diagnosis tests, genetic predisposition tests and pharma-genetic tests. The cyto-genetics department provides complex cyto-genetic diagnosis both for the prenatal diagnosis based on tests taken from chorionic villus, amniotic liquid, fetal blood, conceptive product as well as for the postnatal diagnosis from peripheral blood tests for the newborn babies, children or adults and from the haematogenous bone marrow in order to identify various types of leukemia. Also conducted at the Center are tests for identifying lung cancer, colon cancer, the hereditary breast- and ovary cancer risk, among others. Studies show that if the women having a breast cancer diagnosis made a genetic test before beginning treatment, there would be 34 percent less chemotherapy. Moreover, some 17,000 strokes could be prevented every year if a genetic test were made to assess the patients response to anti-coagulant therapy.

See more here:
First private medical genetics Center, launched in Bucharest

Recommendation and review posted by Bethany Smith

ITHACA, N.Y.--(BUSINESS WIRE)--

Vybion will present data on how its drug, INT41, alters a critical event in the development of Huntingtons disease at the 7th Neurodegenerative Conditions Research & Development Conference in Boston on September 9-10, 2013. INT41 is an Intrabody drug delivered by Gene Therapy that blocks gene dysregulation in Huntingtons Disease by neutralizing a toxic fragment of the Huntingtin mutant protein in the nucleus of the cell preventing gene dysregulation.

We are extremely excited by these data linking INT41 results to specific molecular events in Huntingtons pathology. INT41 provides a surgical approach to inactivate the event for which a growing body of evidence indicates occurs prior to symptoms and may be the driver of disease progression said Lee Henderson, Ph.D., the CEO of Vybion and a coauthor on the presentation. Vybion is pursuing the completion of preclinical development and expects to begin human clinical trials in the next 18 months.

About Vybion, Inc. Vybion is a development stage Company with proprietary technologies that form the core of our business strategy. Vybion uses proprietary technologies for Intrabody development to treat neurodegenerative diseases such as Huntington's, SBMA and SCA, and for target validation in signal transduction pathways and in multiple therapeutic areas. Vybion is advancing its novel research therapy for Huntingtons disease, INT41, through preclinical development with the aim of initiating clinical studies in the near future.

Read the original here:
Vybion’s Huntington Drug Neutralizes Critical Disease Driver

Recommendation and review posted by Bethany Smith

Spinal Cord Injury treated with Stem Cells
After the great response to Mrs. Bayer #39;s interview, we decided to publish another video revolving around one of our other patients named Imad. Please watch a...

By: Norbert Sass

Read more:
Spinal Cord Injury treated with Stem Cells - Video

Recommendation and review posted by sam

Adaptive devices at Madonna Rehab help young woman feel her best after spinal cord injury
Nineteen year-old Rachael Johnson sustained a paralyzing spinal cord injury, but that didn #39;t stop her daily beauty regimen. Rachael demonstrates how using ad...

By: MadonnaRehab

Read the original here:
Adaptive devices at Madonna Rehab help young woman feel her best after spinal cord injury - Video

Recommendation and review posted by sam

Adult Stem Cell Therapy for COPD: Stage-4 patient
Stage 4 COPD patient Ron Delkie arrived at the Regenerative Medicine Institute at Hospital Angeles Tijuana by ambulance, with very little hope of long term s...

By: nuehealth

Read more:
Adult Stem Cell Therapy for COPD: Stage-4 patient - Video

Recommendation and review posted by Bethany Smith

Cell Therapy Live - GOODIE MOB - AGE AGAINST THE MACHINE TO
I was so close for the stage monitors so the sound not as good in this video...BUT TRUST THE SHOW WAS INCREDIBLEEEEEE!!!!

By: Princess Black

More:
Cell Therapy Live - GOODIE MOB - AGE AGAINST THE MACHINE TO - Video

Recommendation and review posted by Bethany Smith

Goodie Mob Performs "Cell Therapy" at House of Blues For "Age Against The Machine"
Here #39;s more of that Good ole Goodie Mob, gettin down with yet another classic of that "Soul Food" Album. "Cell Therapy" was actually the first official singl...

By: sunofhollywood

See more here:
Goodie Mob Performs "Cell Therapy" at House of Blues For "Age Against The Machine" - Video

Recommendation and review posted by Bethany Smith

Stem Cell Therapy Day 0 -1 🙂
Montana starting to build new hips.

By: MoviesByMontana4Dogs

Read this article:
Stem Cell Therapy Day 0 -1 🙂 - Video

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--Research and Markets (http://www.researchandmarkets.com/research/d8mv33/rna_mirna_rnai) has announced the addition of the "RNA (miRNA, RNAi & siRNA) Therapy in Oncology Drug Pipeline Update 2013" report to their offering.

RNA (miRNA, RNAi & siRNA) Therapy in Oncology Drug Pipeline Update 2013

Potentially any disease-causing gene, cell type or tissue can be targeted with miRNA, RNAi or siRNA, including those not 'druggable' with small molecules or protein-based therapies.

There are today 53 companies plus partners developing 79 RNA (miRNA, RNAi & siRNA) drugs in 110 developmental projects in cancer. In addition, the accumulated number of ceased drugs over the last years amount to another 25 drugs. Rna (Mirna, Rnai & Sirna) Therapy In Oncology Drug Pipeline Update lists all drugs and gives you a progress analysis on each one of them. Identified drugs are linked to 56 different targets. All included targets have been cross-referenced for the presence of mutations associated with human cancer. To date 41 out of the 41 studied drug targets so far have been recorded with somatic mutations. The software application lets you narrow in on these mutations and links out to the mutational analysis for each of the drug targets for detailed information. All drugs targets are further categorized on in the software application by 24 classifications of molecular function and with pathway referrals to BioCarta, KEGG, NCI-Nature and NetPath.

How May Drug Pipeline Update Be of Use?

- Show investors/board/management that you are right on top of drug development progress in your therapeutic area.

- Find competitors, collaborations partners, M&A candidates etc.

- Jump start competitive drug intelligence operations

- Excellent starting point for world wide benchmarking

- Compare portfolio and therapy focus with your peers

More:
Research and Markets: RNA (miRNA, RNAi & siRNA) Therapy in Oncology Drug Pipeline Update 2013 Out Now for Review

Recommendation and review posted by Bethany Smith

Ive been selecting columns for a book of my favorites, written over the past 22 years for the editorial page of the Kennebec Journal and Waterville Morning Sentinel. I just came across this column about Gene Letourneau, published shortly after his funeral in 1998. I still miss Gene. How about you?

Gene Letourneaus last cast

The warm breeze wafting through Sacred Heart Church in Waterville last Thursday surely must have carried Gene Letourneaus spirit to the great hunting ground beyond our imagination.

As expected, Letourneaus funeral featured stories about fly fishing and hunting dogs, but we also heard about his musical talent, faith in God, and devotion to his family, especially his lovely wife Lou who died in 1996. The light went out for Gene then, and he began his own hike to join Lou. Hes there now, sipping that Heavenly cold clear spring water.

We are bereft, for the irreplaceable outdoor writer has left behind his canoe without so much as a wake we can ride for even a short way. His paddle dipped too quietly, I guess, for his bosses to realize the impact he was having on the people of Maine, his devoted readers and correspondents.

Genes daily outdoors column, titled Sportsmen Say, that started my day as a kid, is gone, found in none of todays daily newspapers, still wondering why theyre losing subscribers.

I was privileged to appear in a video of reverence and praise presented to Gene at his spectacular retirement party at the Augusta Civic Center a few years ago. My remarks focused on the real magic of his newspaper column, in the section called Chips from the blazed trail.

It was here that Gene presented first-hand reports he received in letters and phone calls from sportsmen throughout the state, accounts of their exciting adventures, latest fishing successes, hunting prowess or simple observations of wild birds and animals.

I always felt this was the secret of his column: he let the voices of his readers and fans be heard. Sportsmen Say. Indeed.

Gene connected with people, whether or not they shared his passion for hunting and fishing, because he presented Maines outdoor traditions in their own words, kept them informed, shared his extensive knowledge (while keeping some secret ponds to himself to protect those precious resources), always in simple, clear prose.

Read more:
Gene Letourneau’s Last Cast

Recommendation and review posted by Bethany Smith

Home Mail News Sports Finance Weather Games Groups Answers Flickr More omg! Shine Movies Music TV Health Shopping Travel Autos Homes Mobile Yahoo! News Search News Search Web Sign In Mail Help Account Info Help Suggestions Yahoo! Home Video Photos GMA Year in Review Odd Comics Travel Opinion Trending Now Who Knew? Weather The Upbeat U.S. U.S. Video GMA Education Religion Crimes and Trials Local Contributor Network Year In Review World World Video Middle East Europe Latin America Africa Asia Canada Australia/Antarctica Business Video Exclusives Today's Markets Stocks Personal Finance Marketplace Entertainment Video Clinton Concert Celebrity TV Movies Music Fashion Books Arts Theater Dear Abby Comics Odd News Sports Video NFL MLB NBA NCAAF NCAAB Soccer Cycling NHL Tennis Golf Boxing Motor Sports MMA Olympics Tech Gadgets Wireless Apple Social Media Security Open Source Gaming Apps This Could Be Big Upgrade Your Life Politics Remake America The Issues Women and Politics Press Releases Video Science Science Video Weather News Space / Astronomy Pets Dinosaurs / Fossils Biotech Energy Green Health Video Weight Loss Cancer Sexual Health Medications/Drugs Parenting/Kids Seniors/Aging Diseases/Conditions Blogs The Sideshow Katie's Take Power Players This Could Be Big Newsmakers Trending Now The Upbeat Who Knew? Nightline Fix Beyond the Headline Local Popular Search Keyword News Search

Read the rest here:
Time to stop fighting GMO labeling?

Recommendation and review posted by Bethany Smith

Advanced Genetics and Team Green Athlete Josee Gallant
Contest Prep, Rep #39;n Advanced Genetics and Team Green I do not own the rights to the music heard in this video. It belongs to the respective copyright owners....

By: Jason Green

Here is the original post:
Advanced Genetics and Team Green Athlete Josee Gallant - Video

Recommendation and review posted by Bethany Smith

The Sims 3: Perfect Genetics Challenge: Episode 4
Baljeet.

By: ThePenguinExpress

Continue reading here:
The Sims 3: Perfect Genetics Challenge: Episode 4 - Video

Recommendation and review posted by Bethany Smith

The Sims 3: Perfect Genetics Challenge: Episode 5
Im lazy as hell.

By: ThePenguinExpress

Read more from the original source:
The Sims 3: Perfect Genetics Challenge: Episode 5 - Video

Recommendation and review posted by Bethany Smith

RACING PIGEON TIPS 2 ....... TRICKS OF THE TRADE
AFTER MY FIRST VIDEO OF THE SECRECTS CHAMPIONS KNOW ,THERE WAS A VERY BIG POSITIVE RESPONSE AND I DID A FOLLOW UP .. SEE superacepigeon.weebly.com . WHAT TO ...

By: wynand wolmarans

Visit link:
RACING PIGEON TIPS 2 ....... TRICKS OF THE TRADE - Video

Recommendation and review posted by Bethany Smith

Pitch Nim Genetics SSIS 2012
Presentación Nim Genetics durante la edición 2012 de Spain Startup Investor Summit.

By: SpainStartUp

Go here to read the rest:
Pitch Nim Genetics SSIS 2012 - Video

Recommendation and review posted by Bethany Smith

Genetics and Care for Children with Congenital Heart Defects
The "Genetics and Care for Children with Congenital Heart Defects" seminar was presented by Dr. John Belmont and Susan Fernbach, RN, BSN on Aug. 1, 2013. This is part of the Evenings with Genetics...

By: BCMweb

See the original post here:
Genetics and Care for Children with Congenital Heart Defects - Video

Recommendation and review posted by Bethany Smith

Genetics 080913

By: aheawprapai

Continued here:
Genetics 080913 - Video

Recommendation and review posted by Bethany Smith

The Future of Personalized Medicine and the Integration ofr Genomics into Clinical and Preventative
Howard J. Jacob, Ph.D., discusses the future of personalized medicine and the integration of genomics into clinical and preventive health care.

By: HMGCatMCW

Read the original:
The Future of Personalized Medicine and the Integration ofr Genomics into Clinical and Preventative - Video

Recommendation and review posted by sam

Genomics, big data, bioinformatics, and the tools necessary to move personalized medicine
Elizabeth Worthey, Ph.D., on genomics: big data, bioinformatics, and the tools necessary to move personalized medicine into everyday care.

By: HMGCatMCW

Read this article:
Genomics, big data, bioinformatics, and the tools necessary to move personalized medicine - Video

Recommendation and review posted by sam

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/pnxjqz/drug_delivery_in) has announced the addition of Jain PharmaBiotech's new report "Drug Delivery in Central Nervous System Diseases - Technologies, Markets and Companies" to their offering.

The delivery of drugs to central nervous system (CNS) is a challenge in the treatment of neurological disorders. Drugs may be administered directly into the CNS or administered systematically (e.g., by intravenous injection) for targeted action in the CNS. The major challenge to CNS drug delivery is the blood-brain barrier (BBB), which limits the access of drugs to the brain substance.

Advances in understanding of the cell biology of the BBB have opened new avenues and possibilities for improved drug delivery to the CNS. Several carrier or transport systems, enzymes, and receptors that control the penetration of molecules have been identified in the BBB endothelium. Receptor-mediated transcytosis can transport peptides and proteins across the BBB. Methods are available to assess the BBB permeability of drugs at the discovery stage to avoid development of drugs that fail to reach their target site of action in the CNS.

Various strategies that have been used for manipulating the blood-brain barrier for drug delivery to the brain include osmotic and chemical opening of the blood-brain barrier as well as the use of transport/carrier systems. Other strategies for drug delivery to the brain involve bypassing the BBB. Various pharmacological agents have been used to open the BBB and direct invasive methods can introduce therapeutic agents into the brain substance. It is important to consider not only the net delivery of the agent to the CNS, but also the ability of the agent to access the relevant target site within the CNS. Various routes of administration as well as conjugations of drugs, e.g., with liposomes and nanoparticles, are considered. Some routes of direct administration to the brain are non-invasive such as transnasal route whereas others involve entry into the CNS by devices and needles such as in case of intrathecal and intracerebroventricular delivery. Systemic therapy by oral and parenteral routes is considered along with sustained and controlled release to optimize the CNS action of drugs. Among the three main approaches to drug delivery to the CNS - systemic administration, injection into CSF pathways, and direct injection into the brain - the greatest developments is anticipated to occur in the area of targeted delivery by systemic administration.

Many of the new developments in the treatment of neurological disorders will be biological therapies and these will require innovative methods for delivery. Cell, gene and antisense therapies are not only innovative treatments for CNS disorders but also involve sophisticated delivery methods. RNA interference (RNAi) as a form of antisense therapy is also described.

The role of drug delivery is depicted in the background of various therapies for neurological diseases including drugs in development and the role of special delivery preparations. Pain is included as it is considered to be a neurological disorder. A special chapter is devoted to drug delivery for brain tumors. Cell and gene therapies will play an important role in the treatment of neurological disorders in the future.

The method of delivery of a drug to the CNS has an impact on the drug's commercial potential. The market for CNS drug delivery technologies is directly linked to the CNS drug market. Values are calculated for the total CNS market and the share of drug delivery technologies. Starting with the market values for the year 2012, projections are made to the years 2017 and 2022. The markets values are tabulated according to therapeutic areas, technologies and geographical areas. Unmet needs for further development in CNS drug delivery technologies are identified according to the important methods of delivery of therapeutic substances to the CNS. Finally suggestions are made for strategies to expand CNS delivery markets. Besides development of new products, these include application of innovative methods of delivery to older drugs to improve their action and extend their patent life.

Profiles of 75 companies involved in drug delivery for CNS disorders are presented along with their technologies, products and 75 collaborations. These include pharmaceutical companies that develop CNS drugs and biotechnology companies that provide technologies for drug delivery. A number of cell and gene therapy companies with products in development for CNS disorders are included. References contains over 400 publications that are cited in the report. The report is supplemented with 51 tables and 11 figures.

Key Topics Covered:

See the original post:
Research and Markets: Drug Delivery in Central Nervous System Diseases - Technologies, Markets and 75 Company Profiles ...

Recommendation and review posted by Bethany Smith

Public release date: 29-Aug-2013 [ | E-mail | Share ]

Contact: NHLBI Communications NHLBI_news@nhlbi.nih.gov 301-496-4236 NIH/National Heart, Lung and Blood Institute

By lowering the expression of a single gene, researchers at the National Institutes of Health have extended the average lifespan of a group of mice by about 20 percent -- the equivalent of raising the average human lifespan by 16 years, from 79 to 95. The research team targeted a gene called mTOR, which is involved in metabolism and energy balance, and may be connected with the increased lifespan associated with caloric restriction.

A detailed study of these mice revealed that gene-influenced lifespan extension did not affect every tissue and organ the same way. For example, the mice retained better memory and balance as they aged, but their bones deteriorated more quickly than normal.

This study appears in the Aug. 29 edition of Cell Reports.

"While the high extension in lifespan is noteworthy, this study reinforces an important facet of aging; it is not uniform," said lead researcher Toren Finkel, M.D., Ph.D., at NIH's National Heart, Lung, and Blood Institute (NHLBI). "Rather, similar to circadian rhythms, an animal might have several organ-specific aging clocks that generally work together to govern the aging of the whole organism."

Finkel, who heads the NHLBI's Laboratory of Molecular Biology in the Division of Intramural Research, noted that these results may help guide therapies for aging-related diseases that target specific organs, like Alzheimer's. However, further studies in these mice as well as human cells are needed to identify exactly how aging in these different tissues is connected at the molecular level.

The researchers engineered mice that produce about 25 percent of the normal amount of the mTOR protein, or about the minimum needed for survival. The engineered mTOR mice were a bit smaller than average, but they otherwise appeared normal.

The median lifespan for the mTOR mice was 28.0 months for males and 31.5 months for females, compared to 22.9 months and 26.5 months for normal males and females, respectively. The mTOR mice also had a longer maximal lifespan; seven of the eight longest-lived mice in this study were mTOR mice. This lifespan increase is one of the largest observed in mice so far.

While the genetically modified mTOR mice aged better overall, they showed only selective improvement in specific organs. They generally outperformed normal mice of equivalent age in maze and balance tests, indicating better retention of memory and coordination. Older mTOR mice also retained more muscle strength and posture. However, mTOR mice had a greater loss in bone volume as they aged, and they were more susceptible to infections at old age, suggesting a loss of immune function.

More:
Single gene change increases mouse lifespan by 20 percent

Recommendation and review posted by Bethany Smith

Aug. 29, 2013 Investigators at The Feinstein Institute for Medical Research have discovered a new way to measure the progression of Huntington's disease, using positron emission tomography (PET) to scan the brains of carriers of the gene. The findings are published in the September issue of The Journal of Clinical Investigation.

Huntington's disease causes the progressive breakdown of nerve cells in the brain, which leads to impairments in movement, thinking and emotions. Most people with Huntington's disease develop signs and symptoms in their 40s or 50s, but the onset of disease may be earlier or later in life. Medications are available to help manage the symptoms of Huntington's disease, but treatments do not prevent the physical, mental and behavioral decline associated with the condition.

Huntington's disease is an inherited disease, passed from parent to child through a mutation in the normal gene. Each child of a parent with Huntington's disease has a 50/50 chance of inheriting the Huntington's disease gene, and a child who inherits the gene will eventually develop the disease. Genetic testing for Huntington's disease can be performed to determine whether a person carries the gene and is developing the disease even before symptoms appear. Having this ability provides an opportunity for scientists to study how the disease first develops and how it progresses in its early, presymptomatic stages. Even though a carrier of the Huntington's disease gene may not have experienced symptoms, changes in the brain have already taken place, which ultimately lead to severe disability. Brain imaging is one tool that could be used to track how quickly Huntington's disease progresses in gene carriers. Having a better way to track the disease at its earliest stages will make it easier to test drugs designed to delay or even prevent the onset of symptoms.

Researchers at the Feinstein Institute used PET scanning to map changes in brain metabolism in 12 people with the Huntington's disease gene who had not developed clinical signs of the illness. The researchers scanned the subjects repeatedly over a seven-year period and found a characteristic set (network) of abnormalities in their brains. The network was used to measure the rate of disease progression in the study participants. The Feinstein Institute investigators then confirmed the progression rate through independent measurements in scans from a separate group of Huntington's disease gene carriers who were studied in the Netherlands. The investigators believe that progression networks similar to the one identified in Huntington's disease carriers will have an important role in evaluating new drugs for degenerative brain disorders.

"Huntington's disease is an extremely debilitating disease. The findings make it possible to evaluate the effects of new drugs on disease progression before symptoms actually appear. This is a major advance in the field," said David Eidelberg, MD, Susan and Leonard Feinstein Professor and head of the Center for Neurosciences at the Feinstein Institute.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

The above story is based on materials provided by North Shore-Long Island Jewish (LIJ) Health System.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

Excerpt from:
Researchers track Huntington's disease progression using PET scans

Recommendation and review posted by Bethany Smith

Aug. 29, 2013 Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

Nine rare, disease-causing mutations of the gene, FBXL4, were found in nine affected children in seven families, including three siblings from the same family. An international team of researchers report the discovery in the American Journal of Human Genetics.

The lead author is Xiaowu Gai, PhD, director of the Center for Biomedical Informatics at Loyola University Chicago Stritch School of Medicine.

Mitochondrial diseases are caused by defects in mitochondria, the cell's energy plants. Malfunctions in mitochondria lead to multi-systemic defects in the brain, heart, muscles, kidney and endocrine and respiratory systems. The many possible clinical symptoms include loss of motor control, muscle weakness, heart disease, diabetes, respiratory problems, seizures, vision and hearing problems, diabetes and developmental delays.

Mitochondrial diseases are caused by mutations in either mitochondrial DNA or in genes in the nucleus that encode for proteins that function in the mitochondria. Mitochondrial DNA is inherited from the mother. Thus, a child can inherit a mitochondrial disease either from the mother alone or from both parents carrying mutations in the same nuclear gene. Mitochondrial diseases affect between 1 in 4,000 and 1 in 5,000 people.

FBXL4 is a nuclear gene that encodes for a protein called F-Box and Leucine-Rich Repeat Protein 4. The study found that mutations of this gene lead to either truncated or altered forms of the protein. This results in cells having less mitochondrial DNA, decreased mitochondrial membrane potential and a faulty process in cell metabolism called oxidative phosphorylation. The study also proved that the FBXL4 protein is located exclusively in mitochondria, which was previously unrecognized.

While mutations in more than 100 genes have been linked to mitochondrial diseases, the new discovery adds another novel disease gene to the list. Consequently, genetic testing will enable more parents to discover the cause of their childrens' mitochondrial diseases. "This knowledge will help give them the peace of mind that it was not something they did to cause the disease," Gai said. More importantly, the discovery also will improve scientists' understanding of mitochondrial diseases, and potentially lead to new drugs to treat the disorders, Gai said.

The discovery began with an 8-year-old girl who had a mitochondrial disease known as Leigh syndrome. She has been seen by Dr. Marni J. Falk of the Children's Hospital of Philadelphia, who is a co-senior author of the study. A battery of genetic tests of the girl and her parents over the years all had failed to find any of the gene mutations previously known to cause mitochondrial diseases.

Gai and Falk used the high-performance computer cluster at Loyola's Center for Biomedical Informatics to analyze billions of DNA sequences to identify the gene mutation in the child and her parents. The research team then reached out to other collaborators to see if any of their patients also had the FBXL4 mutation. Eight additional affected children in six unrelated families were found to also have disease-causing mutations in this gene.

The discovery is an example of how Loyola's Center for Biomedical Informatics is using computational approaches to address basic biomedical questions. Isolating an unknown mutation can involve sequencing and analyzing a patient's entire genome, containing 6 billion base pairs (DNA letters). Powerful computational approaches and infrastructure are required to read and compare sequences of billions of DNA base pairs.

Read the original:
Gene that causes devastating mitochondrial diseases identified

Recommendation and review posted by Bethany Smith