Advertisement

River Edge teen hasn’t let age stop her from becoming genetic researcher and author

iam platform login page background

BEGIN ARTICLE PREVIEW:

RIVER EDGE — Getting young students interested in niche fields of science can be difficult. One 16-year-old is taking matters into her own hands. Lara Ozkan, of River Edge, hasn’t let her age stop her from becoming a genetic researcher who has studied links between diet and cancer. Not only that, but she has writtena book to outline the intricacies of RNA sequencing for beginners. “I love teaching,” said Ozkan. “Sometimes it’s me teaching my sister the multiplication table or teaching my brother in high school chemistry. I like spreading knowledge, that’s a genuine interest of mine.” Ozkan has always had an interest in science and biology, but she began to take it more seriously in middle school.While she enjoyed her studies in school, Ozkan quickly became enamored of a field that wasn’t being taught in class: bioinformatics and computational biology.RNA sequencing is a technique used in the field of bioinformatics and computational biology, which combines biology with computer science and is something that encompasses Ozkan’s love of both biology research and computers. The Bergen County Academies senior  taught herself the principles..Ozkan expanded her knowledge of the field when working as a researcher at her school’s molecular biology lab and the Izmir Institute of Technology in Turkey at age 13 (She has lived in 14 cities in her life).During her time at the lab, she dealt with biological samples, but not data analysis. As she did her research, she realized that there was a growing …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE

Rhythm Pharmaceuticals scores first FDA approval for obesity med targeting genetic defects

iam platform login page background

BEGIN ARTICLE PREVIEW:

Obesity is a major problem worldwide, but for a fraction of patients, genetic mutations rather than habits are driving their disease. With its new FDA approval for Imcivree, Rhythm Pharmaceuticals is taking the first step to treat those cases.For a subset of obesity patients, genetic mutations leave them with an “insatiable hunger,” Rhythm CEO David Meeker said in an interview. Early onset genetic diseases can leave patients unable to control obesity with diet and exercise, and now Rhythm has scored the first FDA approval for a targeted medicine aimed at treating them.
Imcivree, formerly known as setmelanotide, scored an FDA nod to treat patients who have variations of the POMC, PCSK1 or LEPR genes. The drug targets the MC4R pathway responsible for regulating hunger, and the three genes included in the initial approval are just a first step, Meeker said. The company developed a test that looks at about 100 genetic mutations, and it’s testing the medicine in other genetic mutations with eyes on potential approvals down the line.

Free Webinar

From Patient Adherence to Manufacturing Ease – Why Softgels Make Sense for Rx

THIS WEEK: Join Thermo Fisher Scientific’s upcoming webinar to learn why softgels offer numerous benefits for Rx drug development, including enhanced bioavailability, patient compliance and easy scale-up. Register Today!

RELATED: FierceBiotech’s 2016 Fierce 15 — Rhythm Pharmaceuticals 
With obesity, “you can see the forest,” Meeker said, because the problem is everywhere. The challenge is finding patients who could have an underlying genetic mutations causing excessive …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Rhythm Pharmaceuticals scores first FDA approval for obesity med targeting genetic defects”

Postgraduate Research Scholarship in Law and Genetics

iam platform login page background

BEGIN ARTICLE PREVIEW:

1. Background a. This Scholarship has been established to provide financial assistance to a PhD student who is undertaking research in law and genetics.
b. This Scholarship is funded by an Australian Research Council (ARC) research project.

2. Eligibility
a. The Scholarship is offered subject to the applicant having an unconditional offer of admission or being currently enrolled to study full-time in a PhD within the University of Sydney Law School.
b. Applicants must be willing to conduct research in law and genetics.
c. Applicants must hold an Honours degree (first class or second upper) or equivalent in Law.
d. Applicants must have previous research experience in Law.

3. Selection Criteria
a. The successful applicant will be awarded the Scholarship on the basis of:
        I. academic merit,         II. area of study and/or research proposal,        III. curriculum vitae,        IV. a personal statement which demonstrates their interest in law and genetics        V. and previous research achievements, and        VI. previous research experience. 
b. The successful applicant will be awarded the Scholarship on the nomination of the Sydney Law School Associate Dean (Research Education) and the relevant research supervisor(s), or their nominated delegate(s).

4. Value
a. The Scholarship will provide a stipend allowance of $26,300 per annum for up to three years, subject to satisfactory academic performance.
b. The recipient may apply for an extension of the stipend allowance for up to six months.
c. Periods of study already undertaken towards the degree prior to the commencement of the Scholarship will be deducted from the maximum …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Postgraduate Research Scholarship in Law and Genetics”

Researchers find genetic variations linked to Covid-19 severity

iam platform login page background

BEGIN ARTICLE PREVIEW:

BOSTON: A new study led by researchers from Beth Israel Deaconess Medical Center (BIDMC) sheds light on the genetic risk factors that make individuals more or less susceptible to severe Covid-19. Thousands of people test positive for the virus each day, and the reason behind people experiencing mild to no symptoms while others becoming critically ill is still under the shadow of a doubt. According to a new study published in the New England Journal of Medicine (NEJM), research led by Robert E. Gerszten, MD, Chief of the Division of Cardiovascular Medicine at BIDMC irradiate the key process of Covid-19 which can open new possibilities for the treatment of this disease. Gerszten, Professor of Medicine at Harvard Medical School shared that different patients effected by COVID-19 display different symptoms and different degrees of severity, “Pre-existing conditions, particularly cardiovascular and metabolic disease, are risk factors for disease severity and outcomes, the underlying reasons that some people develop the life-threatening disease while others remain asymptomatic are not well understood.” Findings published in the NEJM describes the link of COVID-19 outcomes to variations in two regions of the human genome on the basis of genetic evidence from patients in China, Europe and the United States. But, to find about the difference occurring due to the disease, scientists need to understand the role of the proteins carried by the genome in the context of disease. The database generated by Gerszten and colleagues of all the proteins and metabolites associated with various regions of the …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Researchers find genetic variations linked to Covid-19 severity”

Wheat’s genetic potential unlocked through global collaboration at K-State

iam platform login page background

BEGIN ARTICLE PREVIEW:

MANHATTAN, Kan. (WIBW) – The genetic potential of wheat has been unlocked through global collaboration at Kansas State University.Kansas State University says in a paper published on Wednesday, Nov. 25, in Nature, researchers in collaboration with the international 10+ Genome Project led by the University of Saskatchewan, announced the complete genome sequencing of 15 varieties of wheat representing breeding programs around the world, which is an invaluable resource to improve global wheat production. K-State said the effort gained momentum in 2018 when its team, in collaboration with the International Wheat Genome Sequencing Consortium, published the genome assembly of Chinese Spring, which was the first complete reference genome of bread wheat. It said with advances in DNA sequencing technology and the experience from assembling the first wheat genome, the 10+ Genome Project brought together the expertise and resources of over 95 scientists from universities and institutes in Canada, Switzerland, Germany, Japan, the U.K., Saudi Arabia, Mexico, Israel, Australia and the U.S.According to K-State, the study represents the start of a bigger effort to generate thousands of genome sequences of wheat, including genetic material brought in from the wild relatives of wheat. “It’s like finding the missing pieces for your favorite puzzle that you have been working on for decades,” said project leader Curtis Pozniak, wheat breeder and director of the University of Saskatchewan Crop Development Centre. “By having many complete gene assemblies available, we can now help solve the huge puzzle that is the massive wheat pan-genome and usher in a new …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Wheat’s genetic potential unlocked through global collaboration at K-State”

Doctoral student Ken Smith searches for patterns in genetic data for Alzheimer’s detection

iam platform login page background

BEGIN ARTICLE PREVIEW:

Data science and statistics doctoral student Ken Smith creates software that graphs connections among the DNA of individuals with Alzheimer’s as part of Assistant Professor Sharlee Climer’s lab. (Photo by August Jennewein).
Ken Smith didn’t get a yes when he first approached Assistant Professor Sharlee Climer about joining her lab. It might have struck her as an odd fit to bring on the PhD student in data science and statistics because Climer is a computer scientist.
But Smith was so intrigued by her research identifying patterns in genetic data that he persisted.
“I kept bugging her and bugging her until she said yes,” Smith says. “I really liked that she was working on a problem I could see – I’ve known people with Alzheimer’s or dementia.”
Climer’s lab turned out to be a great match. Since joining in 2018, Smith has completed software for identifying clusters of related data in large sets, which he presented at the Genetic and Evolutionary Computation Conference in 2019, and has embarked on a project developing an Alzheimer’s diagnostic technique in collaboration with Washington University School of Medicine genomicist Carlos Cruchaga.
The problem-solving elements of his University of Missouri–St. Louis research play into Smith’s background. After earning his bachelor’s in physics and a master’s in electric engineering, he’d started at Boeing. A few years in, he’d wanted to brush up and enrolled at UMSL part-time.
A little over a year later, he decided to go …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Doctoral student Ken Smith searches for patterns in genetic data for Alzheimer’s detection”

Clinical and genetic features of cardiomyopathy reported from multiple large familial cases in India

iam platform login page background

BEGIN ARTICLE PREVIEW:

Hypertrophic cardiomyopathy (HCM) affects the health of the heart muscle. The genetic cause of 40-50% of HCM is not known. The mutations responsible for HCM often localized to genes encoding sarcomeric proteins.
In a study published in the journal Nature Scientific Reports, Scientists from MedGenome, Bangalore, India and Amrita Institute of Medical Science and Research, Cochin, India report a rare form of HCM where they have identified mutation in a non-sarcomeric protein PRKAG2.
This study was the first of its kind from India that analysed the inheritance pattern of the mutation in a large number of multigenerational affected members from three unrelated families.

The genetic data obtained helped refine the clinical diagnosis providing a template for personalized treatment applying genomics in the clinic. The families in the study were followed longitudinally for over 7 years to understand the natural history and clinical outcomes of the affected individuals adding to our knowledge of the disease and interventions needed.
Dr Sameer Phalke, Senior Scientist, MedGenome and senior study co-author said, “Genetic testing for HCM diagnosis and screening for risk can now be used routinely for overall disease management.”
He added, “The unique population structure of India makes studies such as this possible.  Familial disease studies in India will create a wealth of knowledge and opportunity to understand many diseases beyond HCM.”
“As far as inherited cardiovascular disease is concerned, it is quite clear that we are now in the era of leveraging the potential of cardiovascular genetic testing for the prompt recognition of …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Clinical and genetic features of cardiomyopathy reported from multiple large familial cases in India”

Research inspired by COVID-19: UW work on genetic sequencing traces community spread

iam platform login page background

BEGIN ARTICLE PREVIEW:







David O’Connor, left, and Thomas Friedrich are pictured in a lab at the University of Wisconsin–Madison in March.

Jeff Miller, UW-Madison

Yvonne Kim | The Capital Times

This is the first in a series of stories about research at UW-Madison inspired by the COVID-19 pandemic.Genetic sequencing of SARS-CoV-2 — the novel coronavirus that causes COVID-19 — reveals that the virus, which was once distinct between Dane and Milwaukee Counties, now reflects patterns of geographic mixing across the state, according to a paper published by University of Wisconsin-Madison researchers this month.In a study published Nov. 3 in Nature Journal, researchers in Thomas Friedrich and David O’Connor’s labs examined the spread of COVID-19 in Dane and Milwaukee counties, which are not only the state’s most populous, but had the most COVID-19 cases early in the pandemic. Data showed that the two counties had largely distinct epidemics through April with limited genetic mixing and that both saw lower rates of spread after Wisconsin’s Safer at Home executive order in March.“The Safer at Home orders in the spring really did seem to keep viruses in Milwaukee and Dane counties from mixing with each other,” Friedrich said. “That compartmentalization has stopped and now, in fact, we see the opposite … Now we’re trying to understand what are the patterns of behavior? What are the things that affect this mixing?”The virus mutates about once every two weeks, or every second transmission between people, like a game of telephone, although these …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Research inspired by COVID-19: UW work on genetic sequencing traces community spread”

Targeting high-risk cancer patients with genetics

iam platform login page background

BEGIN ARTICLE PREVIEW:

Adventist Health for several years has been rolling out a genetic testing and cancer risk-assessment program to sites across the Roseville, Calif.-based system. Now, the program is playing a part in Adventist’s efforts to get patients in need of cancer screenings back into its facilities despite fears over COVID-19.
In the wake of the pandemic, patients have deferred or canceled preventive care appointments out of concern they’ll be exposed to the virus. That could have long-term consequences for cancer care, since fewer patients screened could make it harder to catch cancer cases at an early stage.
Staff at Adventist hope to avoid that by proactively reaching out to patients at high risk for cancer.
Dr. Candace Westgate, an obstetrician-gynecologist and now medical director of the cancer risk-assessment program at the system, began developing the Adventist Health Early All-Around Detection program—abbreviated as AHEAD—in 2016 for OB-GYN services. It’s since expanded to more than two dozen primary-care and specialty sites across Adventist.
Front desk staff ask patients to fill out an online questionnaire from software company CancerIQ about their family history. The software program determines whether the patient might benefit from genetic testing, based on guidelines from medical societies.
Information from family history and the genetic tests is used to stratify patients as low-, medium- or high-risk for various cancers. That informs subsequent care plans, such as more frequent screenings, referrals to specialists or even risk-reducing surgery for some patients.
That risk stratification also can identify patients …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Targeting high-risk cancer patients with genetics”

Idaho police to use grant to examine cold cases using genetic genealogy

iam platform login page background

BEGIN ARTICLE PREVIEW:




MERIDIAN — Recent grant funding awarded to the Idaho State Police’s Forensic Services will allow the agency to examine over 50 cold cases in hopes of finally bringing justice and closure to victims.The money, which totals more than $750,000, was allocated by the Bureau of Justice Assistance, part of the U.S. Department of Justice’s Office of Justice Programs, to help enhance forensic services in Idaho. Roughly $150,000 of it will go toward helping to solve these crimes using a new technique called forensic molecular genetic genealogy. Matthew Gamette, director of ISP’s Forensic Services, said an investigative team — comprised of lab technicians, law enforcement and other personnel — determined specific cases that could possibly benefit from this approach, where DNA has been collected from crime scenes but not yet matched to a suspect in existing databases, like the FBI’s Combined DNA Index System, or CODIS. “We don’t want it to stop at just identifying a potential perpetrator. We want these to result in successful prosecutions, or in some instances, it might result in exonerations,” said Gamette, who was unable to comment on specific cases, since the investigations remain ongoing.The team will work with professional genealogists, who use the molecular biology information in “public opt-in genealogy DNA databases,” such as Ancestry.com, GEDMatch or 23andMe, to hopefully narrow in on a suspect. They have already started contacting local police agencies and county prosecutors to partner on the chosen cases so far, he added. All of the cold cases they are examining involve serious …

END ARTICLE PREVIEW

READ MORE FROM SOURCE ARTICLE Continue reading “Idaho police to use grant to examine cold cases using genetic genealogy”