When looking at family photographs, it’s often quite apparent how facial features are shared across generations, suggesting that they are inherited through a person’s genes. Yet, little is known about how variations in specific regions of the genome influence facial characteristics like a how long someone’s nose is or how wide set eyes are.
Knowing how genes affect facial features could help people learn about what cellular mechanisms influence these characteristics during development, and importantly, provide insight into what goes wrong in craniofacial birth defects that result in abnormal facial features.
Dr. Mary Marazita, professor and vice chair of the Department of Oral Biology, and Dr. Seth Weinberg, associate professor of oral biology, both in the University of Pittsburgh’s School of Dental Medicine, are leading global efforts in this field, working to understand the cause of craniofacial birth defects and the genetic basis of variation in human facial features.
Weinberg heads the Facial Imaging and Morphometrics Lab in the Center for Craniofacial and Dental Genetics at Pitt, of which Marazita serves as the director. The center works with researchers throughout the United States, Europe, Central and South America, Asia, and Africa using sophisticated statistical and molecular genetic methods to study the genetic, behavioral and epidemiological factors that influence gene expression.
Weinberg and Dr. John Shaffer, an assistant professor of human genetics at Pitt’s School of Public Health, recently published the results of one of their ongoing efforts to identify locations on the genome that influence facial features in the journal PLoS Genetics.
In their study, the researchers used two sample data sets, each comprised of unrelated individuals who of European ancestry from the United States who self-reported as being white. The data from approximately 3,000 individuals included genetic information along with a set of 20 craniofacial measurements that are commonly used in clinical settings. The measurements were obtained using stereophotogrammetry, a well-established imaging method that produces a data-rich representation of the surface contours of the body. (more…)
UPMC has been officially approved as an Ebola Assessment/Treatment Facility for the Commonwealth of Pennsylvania. The health system is now formally included in the state’s Ebola Concept of Operations plan, enabling UPMC to play a key role in protecting the community while caring for patients with the highly contagious and deadly disease.
The designation was received as a result of a recent series of site visits, as well as a drill conducted at UPMC Presbyterian and Montefiore hospitals at its new Infectious Disease Unit. Local, state and federal health officials observed as UPMC practiced scenarios involving children and adults suspected of having Ebola.
“We appreciate all the work that UPMC did and commend this designation,” said Dr. Karen Hacker, director of the Allegheny County Health Department. “While there is no current risk of Ebola, the continued efforts of the health care community to meet this high level of safety related to emerging contagious diseases is a critical safeguard for our county.”
The drills UPMC performed were designed to demonstrate the ability of clinicians to provide care for very sick patients while safely using personal protective clothing and equipment, containing potentially contagious bodily fluids and communicating with their coworkers.
Normally, UPMC’s Infectious Disease Unit is used as a regular intensive care unit, caring for UPMC’s sickest patients. But, when it becomes necessary to care for a patient with a highly contagious disease, the unit can be cleared and quickly transformed into a specialized unit with two isolation hospital rooms, a laboratory capable of performing diagnostic tests, and separate rooms where clinicians can don and doff protective uniforms and equipment.
“This designation is the result of many years of hard work by people across a wide swath of disciplines at UPMC, from emergency preparedness and infection control to environmental services and nursing,” said Tami Minnier, chief quality officer at UPMC. “This effort will improve the safety of our region. We especially want to recognize our dozens of staff who selflessly stepped up when we called for volunteers to undergo the rigorous training needed to safely treat a patient with Ebola.”
Click on the gallery below for more photos taken from a recent Ebola drill.
This is the second piece in a series about the many hospital foundations that support UPMC’s mission to serve the community.
The foundation works to lead a culture of philanthropy to engage physicians, board members, staff, volunteers and the community. This builds partnerships between the hospital and community stake holders. Engaging individuals encourages action through charitable giving and volunteerism, fueling a passion for world-class care delivered close to home.
The Founders Club, an annual major giving club, has more than 100 members, nearly half of whom are physicians. The club has enabled the foundation to provide more than $300,000 in grants to UPMC Altoona and the community in the past year.
The foundation board and its many volunteers also create “Winter Splendor,” its largest annual fundraising celebration — attended by nearly 900 guests this year. The event includes a reception, dinner, silent auction, TV raffle and a live auction.
New this year, an additional fundraising effort netted $22,000 to benefit the UPMC Altoona Breast Health Center. To date, $650,000 has been raised for the breast center. The foundation also purchased a Core Vision machine — technology to verify breast biopsy samples and substantially reduce biopsy procedure time, which leads to greater patient comfort. (more…)
The World Health Organization (WHO) yesterday unveiled its first list of antibiotic-resistant priority pathogens – popularly known as “superbugs” – it believes pose the greatest threat to the world’s public health.
The list of 12 bacteria came as no surprise to Dr. Yohei Doi, director of the University of Pittsburgh Center for Innovative Antimicrobial Therapy.
“The list WHO provided accurately reflects the challenges we face at our hospitals today,” said Doi, also a UPMC infectious disease physician.
Three bacteria were designated “Priority 1: Critical” – Acinetobacter, Pseudomonas and Enterobacteriaceae. Doi noted that these are the most problematic pathogens because they are becoming resistant to multiple antibiotics, including carbapenems, which are last-resort antibiotics typically reserved for gravely ill patients with infections who aren’t responding to other treatments.
Doi’s laboratory collects samples of drug-resistant infections from hospitals, testing them against therapies with the goal of developing long-term solutions to the antimicrobial resistance crisis. Multiple health organizations, including the WHO and the U.S. Centers for Disease Control and Prevention, have named antimicrobial resistance as one of the biggest threats to human health.
The WHO’s new list is meant to spur governments to put in place policies that incentivize investing in basic science and advanced research and development in antibiotic discovery by both publicly funded agencies and the private sector.
“Antibiotic resistance is growing, and we are fast running out of treatment options. If we leave it to market forces alone, the new antibiotics we most urgently need are not going to be developed in time,” Dr. Marie-Paule Kieny, WHO’s assistant director-general for health systems and innovation, said in a news release.
Doi noted that progress is being made for Enterobacteriaceae, with several new antibiotics approved or nearing approval, but there continues to be a dearth of effective treatment options for multidrug-resistant Acinetobacter and Pseudomonas.
“Developing new antibiotics or other strategies that are active against these bacteria is challenging, both technologically and economically,” Doi said. “Public-private partnership is essential in advancing research and development in this field. As the WHO points out, investment in developing strategies to prevent infections and preserve the antibiotics we already have is also a high priority.”
UPMC has one of the nation’s oldest antibiotic stewardship programs. Among other responsibilities, the program reviews antibiotic requests for patients at UPMC’s hospitals to ensure that the patients are receiving the correct antibiotic at the best dosage for their infection, and not getting unnecessary or mismatched antibiotics.
During an Allegheny County Council public hearing held earlier this month, more than 30 people spoke both for and against a proposed regulation that would prevent people from using electronic cigarettes (commonly called e-cigarettes or vaping) in public places or inside facilities.
Supporters of the regulation argued that vaping could be a gateway for users – especially teens – to start smoking cigarettes, and also exposes bystanders to the dangers of secondhand e-cigarette smoke. Those against the regulation cited a risk of vapers going back to smoking cigarettes because of their increased exposure to tobacco smokers and claimed that vaping helps smokers quit.
“E-cigarettes help with cessation.”
A study on the association of e-cigarettes with quitting found the odds of quitting cigarettes to be 28 percent lower in vapers compared to those who didn’t use e-cigs.
Dr. Elizabeth Miller, chief of the Division of Adolescent and Young Adult Medicine at Children’s Hospital of Pittsburgh of UPMC, helps bust a few more myths about e-cigarettes.
“E-cigarettes are safe.”
Nicotine, even at low exposure levels, has negative and permanent effects on the adolescent brain as it relates to cognitive functions, such as thinking straight and learning. It also primes the brain for future substance use by inducing epigenetic changes (changes in the genes). Research finds this to be evident because the adolescent brain is developing and reorganizing so rapidly.
“E-cigarettes have therapeutic value.”
Suggestions of nicotine having therapeutic value to individuals with serious mental illnesses such as schizophrenia and bipolar disorder were also addressed in the hearing. Although people with serious mental illnesses are more likely to smoke cigarettes than the general population, nicotine is not considered a medication for use in treating these disorders. There’s also no supporting evidence that not being permitted to use e-cigarettes in public places would have a greater impact on a users’ access to nicotine than what already exists.
Despite e-cigarettes being marketed as a safer alternative to traditional cigarettes or aiding in smoking cessation, regulatory authorities haven’t accepted either of these claims and little is actually known yet about the health risks of vaping.
The Allegheny County Council’s Health and Human Services Committee is scheduled to discuss the proposed legislation on Wednesday. It could then be sent to the full council for consideration. The meeting will be held at 4 p.m. in Conference Room 1 at the Allegheny County Courthouse, 436 Grant St., Pittsburgh.