We have a long way to reach the ‘’perfect human’’

We got together with Boğaziçi University Department of Molecular Biology and Genetics Head Prof. Dr. Esra Battaloğlu, to discuss genome studies, personal treatment and the important progress that has been made in target treatments of diseases, along with the latest developments in these areas and her own research projects.

Prof. Dr. Esra Battaloğlu’s research focuses on shedding light on the molecular mechanisms and genes that are responsible for our peripheral nervous systems which is the  hereditary neuropathies that regulate our muscle system and five senses.


Within this context, the Hereditary Motor and Sensual Neuropathy (HMSN), also known as the Charcot-Marie-Tooth (CMT) disease was identified and diagnosed for the first time in the of  Boğaziçi University Molecular Biology and Genetics Department laboratory.


By the end of the studies which began in the mid 1990s and done with families that were guided to the laboratories by the neurologists in our country, the MNF2 and SH3TC2 genes (the ones that are most commonly found to mutate), and HINTI and FGD4 genes were identified.


The laboratory of Boğaziçi University Department of Molecular Biology and Genetics still stands out as a center that works together with scientist from all over the world in CMT molecular genetics and as a place with international reference in that area.


Esra Battaloğlu, says that since 2010 a new gene (KIFIC) has been identified in the genetic studies for patients who have a rare disease named Hereditary Spastic Paraplegia, which has typical symptoms like spasticity, gait disorder and weakness. The DNA samples taken from the patients that  from our country have formed a HSP bank. Battaloğlu, adds that as the first nt in Turkey to initiate a study in genetics, they are still conducting projects funded by TÜBİTAK :


‘’We are trying to identify the genes that belong to rare CMT cases. In this context, we try to find an answer to the question: ‘What happens in the cell that stops the cell range from working?’ If think that once we can understand the mechanism of the disease, then we can also develop medical treatments.’’


She states that while one in 2500 people have the CMT disease, in Turkey the number of CMT patients are over 30.000. ‘’ If we take into consideration that the disease is found in one of every 2.500 person, we know that there are more than 30 thousand people in Turkey who have this disease and most of them have not yet diagnosed genetically.  From the patient’s point of view we may seem to be only offering them a genetic diagnosis but we are also giving them an option on something they would not choose to pass on to the next generation.


CMT and HSP are not life threatening diseases but they decrease the patients’ quality of life. The patients have difficulty in walking and using their hands. They have body deformations and fall very often. The symptoms of the disease usually manifest after the age of 20 and they worsen over time. Sometimes if the signs of sickness show later in life, for example, after the patient has married and has had kids, it can mean bad news in terms of genetics’’ says Battaloğlu. She adds that thanks to the developing technologies, many genes have been identified but despite the progress of the disease being the same in every individual, the cause of the gene may be different in each patient.


Battaloğlu says a new and less expensive test to identify the disease is a work in progress, however the project has not been backed up by TÜBİTAK. She continues:


‘’At the moment it is harder for us geneticists. We can do genetic identifications because our knowledge has accumulated over time and then we developed a project test with the aim of to doing the diagnosis for less of a cost by combining our data with technology. Unfortunately the project was not accepted in TÜBİTAK. We have worked with almost 1500 patients, which means we have a serious amount of information in our hands. But the lack of monetary resources has forced us to not accept patients anymore. In that case, we direct the patients to a private laboratory and this puts the patient in a disadvantaged position in terms of finances.’’


Prof. Dr. Esra Battaloğlu also states that on the other hand, a project on identifying new genes on CMT and HSP patients that is funded by TÜBİTAK is currently proceeding. ‘’Our primary concern is the patient. Maybe in a short period of time this won’t be a quick solution to their problems but there are plans to treat these kinds of diseases with medicine in the future. For example, a medical treatment for a gene that we have been working on (the MTMR2 gene) has been found. There are ongoing studies on various levels, to test it out on humans. Our patients have also joined the studies. Right now the medicine is being tested and this is a huge progress.’’


Battaoğlu emphasizes all of this has been possible in virtue of the dedicated doctors involved in the process. ‘’Since the beginning of this project Prof. Dr. Yeşim Parman  (from İÜ Medicine Faculty Department of Neurology) has been in a cooperation with us and in this context we are also a part of the CMT consortium, which includes the U.S. and European countries, representing Turkey. As a result, we can inform our patients in Turkey about the updates in medical treatments that come up in the consortium.


So, with the all the medical application at hand, how can one interfere a genetic disease to be passed down to the next generation?


Is ‘’super human’’ the goal of genetic research?


Esra Battaloğlu answers this by saying that the main method that is being used at the moment in medicine is the in vitro Fertilization –IVF- method. However the possibility of removing a disorder from a particular gene was proven by a very recent study that was published in Nature magazine:


‘’Parents can apply to get this treatment if there is a hereditary disease in the family. An embryo sample, before it is placed in the mother’s uterus, is taken to be tested and see if there is a trace of hereditary disease. If there isn’t any problem detected, the embryo is placed in the uterus. This is used for many genetic illnesses. There are other studies as well. In an article published in the August issue of Nature magazine, we can see the latest stage in this development. In the article, the genes of an embryo that carries a genetic illness is corrected.

There is also a very recent method called Crispr/Cas9, which we use to in our own laboratories to impair or arrange a gene. This method is also used in the embryo stage, because by this point it is known that there is an impairment and efforts are being made to correct it. There are two crucial points here; it has been noticed that when the sperm is injected with Crispr/Cas9, the gene can be fixed without any damage or disruption. The second point is, the cells that are formed from that embryo are seen to all have the correct DNA. So it has been proved that the person that will form out of that embryo will have the gene corrected in all of their cells. These studies have caused comments in the popular science world such as ‘’a super human is being made’’. But these comments are very much debatable. Because with this technology, only a certain gene targeted to be corrected, when in fact, what we would want in a perfect human is formed in a combination of several genes. Thereby, we have a long way until we can get to the perfect human.’’