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Genetics Underlying Rare Syndrome Identified - Medscape
Two researchers from a UCLA clinical site explained the genetic approach to diagnosing rare diseases to about 50 UCLA students and faculty members Monday.
In honor of Rare Disease Day, Stanley Nelson and Christina Palmer, principal investigators of a UCLA clinical site, discussed how UCLA participates in the Undiagnosed Diseases Network. UCLA is one of seven clinical sites in the UDN, a network of researchers who study rare diseases and introduce further research possibilities based on a team science approach.
Team science is a collaborative research approach that is based on the overall contribution of the network, which includes clinicians, scientists, genetic counselors and other experts, Palmer said. For example, clinical sites such as UCLA provide patient evaluations while other sites act as laboratory cores that provide DNA sequencing.
Under the UDN, UCLA has worked with 63 patients with rare diseases. The network approach allows patients and physicians to seek out other individuals within the network who may be working with the same disease, Nelson said.
Lab investigations can also address a broad spectrum of rare diseases and increase the speed of testing for disease-specific concerns, Nelson said.
Palmer said patients must go through a comprehensive application process to be evaluated by the UDN. Each patient has to demonstrate that their rare disease has gone through extensive prior evaluation and submit other medical information.
Palmer added some diseases the UCLA researchers study include neurological diseases.
Nelson said the UDN uses genome sequencing in their research, which is done at UCLA prior to clinical evaluation. Sequencing patients DNA before evaluating them can present ethical limitations.
This can overwhelm patients with variants that might not be clinically relevant, Palmer said. There exists a potential for unnecessary tests and possible risks with related procedures, (and) patients wait longer for clinical visit.
Researchers gather phenotypes physical characteristics of participants from medical records, not in-person evaluations, Nelson said. Unlike other disorder researchers, who group patients with similar characteristics, UCLA researchers do not intentionally gather patients with similar phenotypes.
Palmer said clinical evaluations start after genome sequencing. Evaluations take one to five days and may include consultations with specialists and other medical tests.
As a clinical site, UCLA does not focus on treatment or symptom management of rare diseases, Nelson said. Although UCLA researchers aim to diagnose patients, doing so is difficult and not necessarily included in the patient follow-up.
About 70 percent of the patients UCLA is working with are children. Researchers have diagnosed five of 35 completed cases.
Siena Salgado, a third-year human biology and society student who attended the talk, said she had previously studied the sociological impacts of the UDNs structure. She said she was interested in the possible ethical implications of the UDNs genetic-based approach.
Michael Gorin, an ophthalmology and human genetics professor who attended the event, said he thinks the UDN becomes a compensatory process that catches up to other countries with health care systems that already have vested interests in genetic diseases.
The psychological benefit for patients to know why they have a disease is powerful, Gorin said. To be able to tell someone we know what genetic variance is causing this disease, even if we cant treat it removes guilt, uncertainty (and) gives people hope.
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UCLA researchers describe methods for diagnosing diseases using genetics - Daily Bruin
University of Otago researchers have made a ''significant step'' forward in understanding a key factor in Parkinson's disease, gastric cancer and melanoma.
Peter Mace, of the Otago biochemistry department, led the research, working with Australian scientists. The study's first two authors are Johannes Weijman and Dr Abhishek Kumar, of the department.
Dr Mace is ''very excited'' about the outcome of this ''fundamental biochemistry of cells'', which sheds new light on several disease processes.
The Otago-led study of a protein called apoptosis signal-regulating kinase 1 (ASK1) has just been published in PNAS.
Apoptosis is programmed cell death, which protects the rest of the body if damage to an individual cell is too great.
ASK1 and other kinases act as signalling proteins that control many aspects of cellular behaviour. Kinases put tags on to other proteins that can turn them on or off, which in turn can make a cell respond in many ways, including by dividing, dying or moving.
ASK1 also helps control how a cell responds to damage, including by pushing it towards apoptosis.
The research team determined ASK1's previously ''very little known'' molecular structure through using the Melbourne-based Australian synchrotron.
Researchers had learned a lot more about how the protein was turned on and off, which was ''important'', because in diseases such as Parkinson's, stomach cancer and melanoma there could be either ''too much of, or too little ASK1 activity''.
Kinases were ''excellent targets'' for developing new drugs because they had a ''pocket'' in their structure that such compounds could bind to.
But to develop better drugs, far more knowledge was needed, he said.
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Research on signalling protein sheds new light on disease processes - Otago Daily Times
Greys Anatomy has tapped June Squibb and Hal Holbrook as guest stars,Variety has learned exclusively.
The duo will appear in the episode on Mar. 23, playingElsie Clatch and Lewis Clatch, a married couple who visit Grey Sloan Memorial Hospital. No other details on their storyline have been revealed.
Additionally, the Mar. 23 episode will also welcome back guest starLaTanya Richardson Jackson, who will reprise her role as Maggies (Kelly McCreary) mother, Diane Pierce.
Squibb, who was nominated for the Academy Award for Nebraska, recently had an arc on Showtimes Shameless. She will be in the upcoming film Table 19. She is repped byBRS/Gage.
Holbrook, star of his iconic Tony-winning one-man show Mark Twain Tonight, has been keeping busy in recent years. The multiple-time Emmy-winner had a recurring role on Sons of Anarchy and guest starred in an episode of Bones this year. Heisrepped by JR Talent Group.
Greys Anatomy, which was recently renewed for a fourteenth season,airs Thursday nights at 8 p.m. on ABC.
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June Squibb and Hal Holbrook to Guest Star on 'Grey's Anatomy' (EXCLUSIVE) - Variety
SHOOTING AT BUTLER COUNTY SCHOOLSchool shooting victim apologizes to shooter, says he's still a friend | 1:50
Madison High School shooting victim Cooper Caffrey speaks to his shooter, telling him that he wished he would've helped him sooner and that he is still his friend. The Enquirer/Carrie Cochran
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James "Austin" Hancock entered guilty please to four counts of attempted murder in connection with the Madison School shootings in Butler Co. Juvenile Court. The Enquirer/Patrick Reddy
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Hancock is accused of shooting two teens in the cafeteria of Madison Jr./Sr. High School on Monday and faces two counts of attempted murder and other felony charges. The Enquirer/Cara Owsley
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Our number 1 priority is to make our students feel comfortable and safe," says the superintendent of the Butler County school district where Monday's shooting occurred. Students return to school tomorrow. The Enquirer/Cara Owsley
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A 14-year-old male student is accused of shooting two other male teen students in the cafeteria of a Butler County school about 11:15 a.m. Monday. Provided
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A sophomore who said he was a friend of the alleged shooter in a Butler County High School said he was shocked. Jordan Eslick described James Austin Hancock as friendly with everyone. The Enquirer/Carrie Cochran
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Butler County Sheriff Richard K. Jones announced Monday alleged shooter James Hancock, 14, was charged with two counts each of attempted murder and felonious assault, as well as one count each of inducing panic and making terroristic threats. The Enquirer/Patrick Brennan
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Reaction from a student and other scenes following the shooting at Madison Jr./Sr. High School Monday. The Enquirer/Patrick Brennan
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Butler County Sheriff Richard K. Jones discusses available information after the shooting at Madison Jr./Sr. High School. The Enquirer/Patrick Brennan
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Anthony Dwyer, Chief Deputy of the Butler County Sheriffs Office, discusses Monday's shooting at Madison High School. The Enquirer/Cara Owsley
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School shooting victim apologizes to shooter, says he's still a friend
Madison school shooter pleads guilty
James Austin Hancock, 14, arraigned in school shooting
Superintendent on Monday's school shooting
Listen to the 911 call from the Madison High School shooting
Witness: Madison shooting suspect 'friendly with everyone'
Charges announced in Madison Jr./Sr. High School shooting
Students, others react to Madison school shooting
Butler County Sheriff on Madison Jr./Sr. HS shooting
Official discusses Butler Co. school shooting
Cooper Caffrey, a student at Madison High School, leaves the bench after reading a prepared statement about the day he was shot by James "Austin" Hancock, Feb. 29 in the cafeteria.(Photo: The Enquirer/ Liz Dufour)Buy Photo
MADISON TWP. -Cooper Caffrey was on the cafeteria floor waiting for an ambulance.
The bullet had gone in his stomach and out his back. It just missed the 14-year-olds spine and liver.
A friend texted him to ask if he was OK.
NO was all he could manage.
Cooper couldnt feel his legs. He asked the dean of students if he was going to die. He asked about his brothers.
A short time later, his dad called.
Wheres Austin? Cooper said. Go find him and make sure hes OK.
Austin is the boy who shot him.
.....
Members of the Butler County Sheriff's Department search Madison Schools after a shooting on Feb. 29, 2016.(Photo: The Enquirer/Cara Owsley)
They knew about the gun. Some had seen it in the bathroom.
Austin Hancock was nervous. Lunch had started about 15 minutes ago. Two students stared at him across the table.
The whispers started, and Austin began shaking. He had a gun in his pocket.
"Oh my God," a girl said.
She jogged to the office, looking back at Austin. He stood up.
He didn't say anything.
He fired at least two rounds at a group of students about 15 feet away from him. He was staring at the exit, and as soon as the second shot rang out, he ran.
At Butler County school, a day of fear
.....
On June 6, Austin was being sentenced at the Butler County Juvenile Justice Center. Four students had been injured in the school shooting. None had died.
Austins mother cried.
He is not a cold-blooded criminal, she told the judge.
Kristi Blevins hugs her son after his sentencing for the shooting at Madison High School last year.(Photo: The Enquirer/ Liz Dufour)
Before reading Austins sentence, Judge Ronald Craft recalled a time he brought a youth baseball team to Madison Township. He had never been there before.
He doesnt remember how his team did in the tournament, but he remembers Madison.
Its a great community, said Craft. And when this happened, that spirit of America, if you will, was temporarily damaged.
The victims were given a chance to speak. An official read a statement from the grandmother of one student, who would later sue Austin and his family. That student tried to return to school but found it too physically draining.
Then Cooper took the stand.
I forgive you, he told Austin.
I should have done more, he said.
Im sorry."
.....
Austin Hancock and his wife listen to court proceedings as his son is sentenced for the shooting at Madison High School in 2016.(Photo: The Enquirer/ Liz Dufour)
Sometime before the shooting, Austin argued with his dad about grades.
It was often about grades.
Austin was in danger of failing history. His dad yelled at him, Austin would later tell police, for not caring enough. But Austin said he was trying to do better so he could run track in the spring.
Austin had said he wanted to live with his biological mom.
His parents had split up shortly after he was born, when they were still in high school. His mom had served time in prison on drug charges. Tommy Hancock got full custody of Austin when he was 4.
Kristi Blevins has only attended three of her sons sporting events, Austin told police. But she is doing better now, the boy said, and trying to spend more time with him.
The Madison Mohawk student section cheers their team during a football game against Monroe High School Sept. 2.(Photo: Madison Schmidt for The Enquirer)
Austin loves his dad. He said they were like brothers. But he grew tired of the arguments about grades.
He grew tired of the chores.
He was washing dishes when he snapped.
"I'm gonna hang myself because of you," Austin screamed at his father.
A few months before he brought the gun to school, Austin wrote a suicide note. He flushed it down the toilet.
Some of Austin's relatives teach at Madison. Others attend school there.
They all say they never expected this. His step-mom said she used to practice Austins yearbook smile, because his natural one was too big.
This note was found in Austin Hancock's bookbag after he was arrested for shooting two other students in the Madison Schools cafeteria in 2016.(Photo: Provided/Butler County Sheriff's Office)
But after his arrest, Austin told police he often sat alone at family events.
Two years ago, during a Super Bowl party at his aunt's house, he broke down. He doesn't remember what was said to him, but he remembers crying in front of everyone.
"My family just kind of looks at me weird," he said in an interview with police. "That kind of bothers me."
When Austin brought a gun to school on Feb. 29, 2016, he also brought extra ammunition. He didn't plan on reloading and shooting anyone else.
He brought it for himself.
After the shooting, a sheriff's deputy asked him why he did it.
"So I wouldn't have to go back home," Austin said.
911 calls reveal terrifying aftermath of Ohio school shooting
.....
Cooper met Austin in school.
Austin was listening to Nirvana on his laptop. Cooper asked him about it and they started talking. The two wrestled together, often spending time between matches listening to music.
He had phenomenal taste in music, Cooper said.
A reference to Nirvana is something Cooper took out of his courtroom speech. He didnt want people to think Austin was a clich a troubled teen who fantasized about death while listening to Kurt Cobain.
He wanted them to see what he saw.
He saw a boy struggling with the split of his parents. He saw a boy who needed help. In many ways, he saw himself.
Coopers parents are divorced. It hasnt been easy for him, and the shooting hasnt helped.
Before Austins sentencing, Coopers dad told him there would be hordes of television cameras and news media there. He was worried for his son.
I want them to be there, Cooper said.
.....
Marty Caffrey and his son, Cooper, walk together in the Madison Township Park on Sept. 13.(Photo: The Enquirer/Carrie Cochran)
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#MohawkStrong: The anatomy of a school shooting - Cincinnati.com
Are you ready for Japril to get some alone time in Montana? "Grey's Anatomy" star Sarah Drew told Moviefone that Season 13's April and Jackson (Jesse Williams) standalone episode would be "pivotal for the two of them, individually and also as a pair," and now we have more details and images to go with the tease.
Episode 16, "Who Is He (And What Is He To You)?" airs Thursday, March 16 at 8 p.m. on ABC. Here's the synopsis:
"Dr. Jackson Avery and Dr. April Kepner travel to Montana in order to perform a complicated surgery on a young patient, but Jackson's mind is elsewhere, and April is forced to step up and get him back on track."
The episode was directed by Kevin McKidd (Dr. Owen Hunt), and both he and executive producer Debbie Allen (Dr. Catherine Avery) were featured in some of the behind-the-scenes photos ABC shared to promote the episode:
What's on Jackson's mind? He does look lost in thought, especially in that closeup photo.
Sarah Drew told Moviefone the trip to Montana is for a throat transplant case:
"But it's a really incredible opportunity for them to be kind of still and have to face one another with nothing else distracting them out of the normal environment. And we're really, really proud of it. Kevin McKidd directed it. It's very different, tonally, than a lot of the other episodes. There's a lot of quiet space and stillness. It's not like frantic and moving super-fast. And it's really lovely."
Before we get to this very lovely-sounding episode, we still have Episode 15, "Civil War," which airs March 9. (There is no episode on Thursday, March 2.) Here are more details on "Civil War."
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'Grey's Anatomy' Season 13 Photos Tease Japril's Montana Episode - Moviefone
The neck
In terms of extreme forces they endure, this season we anticipate a greater mechanical grip and faster cornering speeds so we would expect a possible increase in the lateral and longitudinal g-forces which will increase the load on the neck. The neck has to endure a 30-35% increase in load, so the equivalent of about an extra 30-40kg.
Technogym is a partner of ours and they have provided a specific machine known as the F1 Training Machine which enables the drivers to sit in a very specific position and build the right strength. The steering wheel is plate-loaded so you can adjust the position and the load. The drivers can also wear a helmet with attachments of bungee cords which help provide some elastic resistance to simulate the loads they experience in the car.
The drivers also need neuromuscular capabilities so their nervous system needs to be able to react quickly to stimulus on the track, whether that be a move by a fellow competitor, debris on the track, or information or instructions from the pit. They have to make quick decisions in seconds. Driving at such high speeds requires instant decision-making while controlling a million pound machine which is very valuable to the team.
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The anatomy of F1 drivers: from lighting reactions to superstrength necks - Telegraph.co.uk
MHRA Unveils 'Regulatory Ready' Stem Cell Lines Posted 27 February 2017 By Michael Mezher
The UK's Medicines and Healthcare products Regulatory Agency (MHRA) on Monday said it is looking to boost the development of cell therapies through the availability of what it calls "regulatory ready" embryonic stem cell lines.
"The UK Stem Cell Bank (UKSCB) at the National Institute for Biological Standards and Control (NIBSC) is releasing its first stem cell lines suitable for development into novel cell-based medicines to researchers wishing to bring new and innovative therapies to clinical trial," MHRA said on Monday.
The stem cell lines are intended to serve as qualified starting materials for cell therapies looking to enter clinical trials.
"The availability of EUTCD [EU Tissue and Cell Directives]-grade human embryonic stem cell lines via the UKSCB provides an invaluable 'gold standard' starting material; ensuring high quality and ethically-sourced stem cells are widely available to the research community to use in human clinical studies," said Rob Buckle, chief science officer at the UK's Medical Research Council, which is a co-sponsor of the UKSCB.
The stem cell lines will be produced by a handful of UK-based universities and deposited at the UKSCB in compliance with the EUTCD, which establishes quality and safety standards for human tissue and cells.
According to the UKSCB, "EUTCD-grade cell lines undergo a process known as due diligence to ensure they meet the requirements of the EU Tissue and Cell Directives before they are accepted for banking and distribution for human application. The EUTCD-grade cell lines have been derived from embryos under the informed consent requirements of the UK Fertilisation and Embryology Authority (HFEA) and have been reviewed by an independent UK Steering Committee."
In the coming months, MHRA says that stem cell lines produced by the University of Sheffield, University of Manchester and King's College London will be made available, followed by additional stem cell lines from Newcastle University and Roslin Cells by the end of the year.
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MHRA Unveils 'Regulatory Ready' Stem Cell Lines - Regulatory Focus
Last year, more than $1,000 4-H Cloverbud, School Enrichment, Special Interest and 4-H Club members from Harlan Elementary and Middle Schools, Rosspoint, Cumberland, Evarts, Black Mountain, Cawood, James A. Cawood, Harlan County Christian, Sunshine Preschool, Wallins School, Mr. Lewis Science Class at Harlan County High School and a college class at the Cumberland Hope Center participated in the 4-H Chick Incubation Project during March.
This year we anticipate about the same number as last year to participate in the 4-H Chick Incubation Project. This project fulfills the 4-H project curriculum requirements for animal science and is also designed for correlation to the U.S. National Science Education Standards. Embryology: The Study of Life is designed to provide classroom teachers background information and exciting activities for hands on activities provided by the Harlan County 4-H Chick Incubation Project.
Children have a natural sense of curiosity about living things in the world around them. Building on this curiosity, students can develop an understanding of biology concepts through the direct experience with baby chicks, their life cycles and their development. 4-H believes that students learn best through their experiences and interactions with the world. 4-H Club members learn by listening, observing, experiencing and applying their knowledge to real-world situations. Each activity in the 4-H Animal Science curriculum follows these steps in the experiential learning model.
An additional goal of this curriculum is to help students develop life skills. Life skills are abilities that help an individual live a productive and satisfying life. Within this curriculum 4-H club members will have an opportunity to develop life skills related to science processes, teamwork, keeping records, and planning and organizing.
Before each classroom 4-H club leader receives eggs, incubators, and brooders, they will learn what happens from egg to chick. Students will learn definitions relating to poultry incubation and the importance of chickens and eggs in the economy. Students will discuss consumer concerns about eggs and cholesterol. In addition, students will learn the structure of the egg, and actually take a look inside the egg as the embryo develops by constructing an egg candler. Students will use the candler to determine whether the incubated eggs are fertile, and if fertile, to check on the growth and development of the embryo. Students will learn the timing of major embryonic development of the chicks: fertilization, division and growth of living cells, and segregation of cells into groups of special function. On Day 21 students will observe the actual hatching process of the chicks.
Prior to starting this 4-H incubation and embryology project, a specific plan for the chicks will be worked out. The chicks will then be given to someone who has proper brooding facilities, successful brooding experience, and the interest to properly care for and raise the chicks. No chicks will be given to children for pets. A young childs enthusiasm often results in unintentional cruelty. Improper handling can produce broken legs and wings as well as emotional stress for the birds. If a bird dies or is injured, it is not only a traumatic experience for the bird, but for the youngster as well. In addition, a childs initial enthusiasm fades, and he or she will likely grow tired of the chick as it becomes an adult. Few people realize how quickly the fluffy yellow down of chicks is replaced by feathers. If one of these chicks survives, it is often abandoned or becomes a burden to the parents of the child. Or, lack of care leads to unintentional abuse or neglect, thus unintentional cruelty results.
Thirty-five dozen eggs for the project are scheduled to be picked up by the 4-H Agent on Feb. 27. These eggs will be donated by the University of Kentucky College of Agriculture Poultry Department. We also plan to obtain eight to ten dozen local eggs from poultry farmers in the surrounding area. Incubators with automatic turners have been delivered to all school mentioned above who participated last year and including the Cumberland Hope Center. Eggs will be delivered and set in incubators on Feb. 28 and eggs are expected to hatch approximately 21 days later. Each school will have approximately two dozen eggs to incubate.
Students who are planning to participate in this years 4-H Communications Day need to contact the Extension Office if you have any questions or need any help. Communications Day will be held March 16, at 4:45 pm at Southeast Community College Harlan campus. It will consist of speeches, demonstrations and variety show acts. There will be T-shirts and a participation ribbon to all who participate and their participation will count as a completed 4-H project. All first place winners will be awarded a 4-H medallion and will advance to participate in the Area 4-H Communication Day held at North Laurel High School the first Saturday in May.
If you have any questions about the Chick Incubation Project or 4-H Communications Day contact Raymond Cox 4-H Agent at 606-273-0835 or 606-573-4464 or email me at [emailprotected] or message me on Facebook.
Raymond Cox is the Harlan County extension agent for 4-H/youth development. Educational programs of the Kentucky Cooperative Extension Service serve all people regardless of race, color, age, sex, religion, disability or national origin.
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4-H Chick Incubation Project coming up - The Harlan Daily Enterprise
Alumni of the Department of Anatomy of Andhra Medical College share a lighter moment during the inauguration of revamped premises in Visakhapatnam on Monday | Express
VISAKHAPATNAM: In a bid to provide better facilities to students of Andhra Medical College (AMC), the oldest in the state, the renovation works of the college that began a few weeks ago were completed. The college name board in English and Telugu was put up on the main building and a new gate at the entrance was opened on Monday.
The huge revamped anatomy dissection hall of the Anatomy department was inaugurated by the vice-chancellor of NTR University of Health Sciences, T Ravi Raju.
The new hall features LED lights, fans, marble tables for dissection and new flooring. A new borewell in the Physiology department was sunk and the age old statue of Mercury (Roman God) on the college premises was renovated and unveiled on Monday.
College principal T Radha said, Alumni of the college had come forward to donate funds to refurbish the college premises. Out of the 150 students from the 1975 batch, as many as 60 contributed Rs 12 lakh. Within six weeks, the renovation works were completed.
Dr Digumarthi Raghunadha Rao, the director of Homi Bhabha Cancer Hospital and Research Centre, Visakhapatnam, who bagged the BC Roy Award recently, was felicitated by the college authorities.
KGH superintendent G Arjuna, AMC vice-principal Padmavathi, Anatomy HoD Asha Latha along with the team of 10 students of the 1975 batch were amongst the others present during the inauguration.
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Andhra Medical College gets revamped anatomy dissection hall - The New Indian Express
