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
Will Ferguson | Newswise
Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University
Transfecting cells gently – the LZH presents a GNOME prototype at the Labvolution 2017
25.04.2017 | Laser Zentrum Hannover e.V.
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
25.04.2017 | Physics and Astronomy
25.04.2017 | Materials Sciences
25.04.2017 | Life Sciences