Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Shedding Light on Down Syndrome

26.06.2013
Research and internship support aspiring genetic counselor

Shortly after birth, Charlie Saffian was diagnosed with Down syndrome.

His sister Eleanor was nine at the time. At first, she didn’t know what to expect of her new baby brother.

“I remember looking around my school cafeteria and thinking there are a lot of people here with special needs, and I know nothing about them,” she said. “I didn’t know what my baby brother was going to be like.”

Day after day, Saffian said she came to realize her brother’s condition, a genetic disorder where an extra chromosome is passed to a child from one of its parents, did not make him any less of a person.

“Charlie does chores like the rest of us and cheers on the Bruins like the rest of us. He beats me at Xbox every day,” she said. “Charlie will take longer to learn how to do multiplication and read, but he is going to be able to do all that on his own time.”

Eleanor Saffian, now a rising senior at Wake Forest University in Winston-Salem, N.C, said her lifelong relationship with Charlie inspired her to pursue a career as a genetic counselor – a job that will allow her to shed light on misperceptions about Down syndrome and help new parents with a Charlie of their own.

An Exceptional Drive

Saffian said she struggled with the demanding curriculum at Wake Forest as an 18-year old student. This had her at times doubting whether or not she would be able to make her professional dreams a reality.

She often turned to Clifford Zeyl for advice. Zeyl, an associate professor of biology, studies evolution as it occurs in budding yeast. He said he was immediately struck by her initiative and focus on the big picture. He invited her to join his lab.

“A semester of research is a low investment way of finding out if a particular area of science will enrich your education and help you beyond college,” he said. “Eleanor has a personal connection to the field of genetics that has kept her here working with me for more than a year.”

Saffian’s research for Zeyl is on the evolution of genetic systems. She is focusing on what allows a population of a single species to diversify into multiple different organisms.

“The hands-on experience has really helped me,” she said. “Professor Zeyl also takes the time to help me think about the bigger picture in terms of my future career.”

Saffian is working at Massachusetts General Hospital’s (MGH) Down Syndrome Program in Boston this summer.

Launched less than a year ago, MGH’s Down Syndrome Program is one of the only comprehensive adult and pediatric Down syndrome programs in the nation. It offers multiple clinics each week tailored to meet the unique medical and psychosocial needs of patients of all ages.

Saffian said her internship combines her knack for genetics with her love of working with people like Charlie and their families.

She is currently working to simplify the process of obtaining guardianship for adults diagnosed with a chronic condition such as Down syndrome.

She is also reaching out to patients between the ages of 12 and 25 and their families to set up focus groups to streamline the process of transitioning from a pediatrician to an adult practitioner.

“My hope is that by the end of the summer, families visiting the clinic won’t feel as confused or worried as my family did when Charlie was born,” Saffian said.

In the long term, she said she wants people to realize the only difference between them and her brother is a microscopic extra chromosome.

About Wake Forest University
Wake Forest University combines the best traditions of a small liberal arts college with the resources of a large research university. Founded in 1834, the school is located in Winston-Salem, N.C. The University’s graduate school of arts and sciences, divinity school, and nationally ranked schools of law, medicine and business enrich our intellectual environment. Learn more about Wake Forest University at www.wfu.edu.
Wake Forest University
Office of Communications and External Relations
336-758-5237
media@wfu.edu
http://news.wfu.edu
@wfnewscenter
MEDIA CONTACTS:
Will Ferguson
336-758-5390, ferguswg@wfu.edu

Will Ferguson | Newswise
Further information:
http://www.wfu.edu

Further reports about: Chromosome Down Syndrome genetic systems

More articles from Life Sciences:

nachricht Making fuel out of thick air
08.12.2017 | DOE/Argonne National Laboratory

nachricht ‘Spying’ on the hidden geometry of complex networks through machine intelligence
08.12.2017 | Technische Universität Dresden

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

Im Focus: Successful Mechanical Testing of Nanowires

With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong

Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...

Im Focus: Virtual Reality for Bacteria

An interdisciplinary group of researchers interfaced individual bacteria with a computer to build a hybrid bio-digital circuit - Study published in Nature Communications

Scientists at the Institute of Science and Technology Austria (IST Austria) have managed to control the behavior of individual bacteria by connecting them to a...

Im Focus: A space-time sensor for light-matter interactions

Physicists in the Laboratory for Attosecond Physics (run jointly by LMU Munich and the Max Planck Institute for Quantum Optics) have developed an attosecond electron microscope that allows them to visualize the dispersion of light in time and space, and observe the motions of electrons in atoms.

The most basic of all physical interactions in nature is that between light and matter. This interaction takes place in attosecond times (i.e. billionths of a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Midwife and signpost for photons

11.12.2017 | Physics and Astronomy

How do megacities impact coastal seas? Searching for evidence in Chinese marginal seas

11.12.2017 | Earth Sciences

PhoxTroT: Optical Interconnect Technologies Revolutionized Data Centers and HPC Systems

11.12.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>