Huda Zoghni was born in Lebanon. Huda attended medical school at the American University located in Beirut in 1975. According to an article in Discover, Huda was forced to leave medical school when civil war broke out, and Beirut was in the middle of the conflict.
We can fast-forward to 2017 when Huda received the Breakthrough Prize in Life Sciences, but there were decades of dedication and hard work in between.
An Unusual Living Arrangement
The students found it impossible to get back to their homes during the war. They were also determined to continue their studies.
Bombs and artillery fire were everywhere. The students decided to create living spaces at the college and stayed there for six months.
Huda and the other students lived in the college basement. There were no windows, just small, dark rooms. Huda found a closet-like space just large enough for her sleeping bag. Meals were cooked in the lab on a Bunsen burner.
Nevertheless, she continued her studies.
After seeing Huda’s brother hit by shrapnel and realizing that the war would continue for quite some time, Huda’s parents sent them to live with their sister in Texas.
Ironically, they arrived in the U.S. on July 4th, and Huda was paralyzed with fear thinking that they were back in a war zone. It took a while for her to understand that the noises were fireworks and not bombs.
No Going Back
As time passed, Huda realized that with Beirut’s airport closed down and the borders closed it would be impossible to return home.
Huda was admitted to Nashville’s MeHarry Medical School. She graduated in 1979 and began her residency in Houston at Baylor College of Medicine. Huda became fascinated with neurology and made the decision to specialize in pediatric neurology.
Her first encounter in 1983 was with two girls, ages five and twelve, who were both unable to speak and were understandably socially withdrawn. Both girls had an awkward gait, poor balance, and breathing difficulties.
The most unusual symptoms that occurred were continuous hand movements. Both girls were unable to control the wringing, clapping, scratching, and flapping of their hands.
That same year Huda learned through a paper that was published in a neurology journal that her patients had Rett syndrome. The rare neurological disorder interferes with the brain’s development thereby affecting motor skills and speech. Approximately one in ten thousand girls are diagnosed with this disease. Rett syndrome causes developmental and intellectual disabilities.
After meeting and examining other Rett patients, Huda was convinced that the disease was genetic. However, she could not help her patients until she discovered the gene responsible for the disease.
Starting From Ground Zero
At that point, Huda had six years’ experience in neurology. However, she admittedly was lacking in basic research. That meant starting at the very bottom or as she said, “level zero”.
In 1985, Huda was fortunate to begin her molecular genetics studies and training with pediatrician and scientist, Dr. Arthur Beaudet at Baylor.
For her research project, they both thought it best to temporarily shelve Rett syndrome studies and concentrate on the neurodegenerative spinocerebellar ataxia (SCA) disease. SCA mimics Rett syndrome in many ways but it is significantly more severe, often fatal.
In 1993, Huda and her associate Dr. Harry Orr, independently found that SCA originates in a mutation in the ATAXIN-1 gene. The mutation creates toxic ATAXIN-1 levels to build up in the brain cells.
Now, after many years of dedication and receiving the Breakthrough award, Huda is working with another colleague to find a therapeutic approach that can decrease Ataxin-1 levels thereby alleviating symptoms.
About the Discovery
Sixteen years (1999) after beginning her research on Rett syndrome disorder and analyzing her patients’ DNA samples, Huda and colleagues identified the Rett syndrome gene MECP2 that gives instructions on the creation of the MECP2 protein.
This has led to an understanding of various neurological disorders such as autism, intellectual disabilities, and juvenile schizophrenia.
Thanks to Huda’s determination and that of her colleagues, scientists have a better understanding of how having either an overabundance or insufficiency of the MEDP2 protein can affect the brain.
This puts everyone researching Rett Syndrome closer to finding relief for patients.
About the Awards
Mark and Priscilla Zuckerberg, the Facebook internet entrepreneurs, funded the Life Sciences Breakthrough Prize. The prize that Huda received for discovering the two often fatal diseases, Rett and SCA, amounted to a cash award for research of three million dollars.
As we know, one of the many challenges that led up to the award was her survival of a brutal civil war.
Huda acknowledges that she was often advised that she was wasting her time. Instead, she counters with her conviction about the value of basic research.
Huda is still traveling on her thirty-year journey and believes she will soon see the path that will lead her towards helping her patients with Rett, SCA, or other degenerative diseases.