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 Cancer diagnosis: no more needles?
25.05.2018 | Christian-Albrechts-Universität zu Kiel

nachricht Less is more? Gene switch for healthy aging found
25.05.2018 | Leibniz-Institut für Alternsforschung - Fritz-Lipmann-Institut e.V. (FLI)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Powerful IT security for the car of the future – research alliance develops new approaches

The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.

Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

In focus: Climate adapted plants

25.05.2018 | Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

 
Latest News

In focus: Climate adapted plants

25.05.2018 | Event News

Flow probes from the 3D printer

25.05.2018 | Machine Engineering

Less is more? Gene switch for healthy aging found

25.05.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>