Introduction:
Rare diseases, by their very nature, affect a small percentage of the population, yet their impact on individuals and families can be profound. Even more so, these conditions typically present numerous difficulties to health care experts who have to deal with such conditions because of how uncommon they are plus there is not much understanding of their etiology and disease progression. Thanks to the study of genetics, one of the newest and most revolutionary fields, these issues seem to be more manageable. It is possible, through the study of the rare disease genomics, to explore and understand the mechanism of accurate diagnosis and targeted intervention and possible cure of the disorder itself. Elephant in the Room.
Genetics and the challenge of rare disease diagnosis:
“About few decades, rare disease diagnosis has remained one of the major complications in the field of medicine. In most cases, the traditional approach tends to be trial-and-error based, lasting for years during which the patients and their families are left in the lurch. Fortunately, genetics has proven to be the key tool in solving this problem. Through the analysis of a patient’s sequence of their DNA, physicians are able to discover the genetic mutations that are in question for the rare disease in question. This precision medicine reduces the diagnostic odyssey and brings respite to the patients and allows for the realization of better triangles of care”. Says Isaac Robertson, Co-Founder at Total Shape
Targeted therapies and the role of precision medicine:
“The gathering knowledge about genetics opened avenues for the creation of therapies which are today known as targeted therapies. This is one of the most notable components of precision medicine. In contrast to the more conventional medicine that often employs a ‘one size fits all’ method, targeted therapies are aimed at the specific genetic aberrations that lead to a particular ailment. This is more crucial particularly for rare diseases, where blanket treatment options may not be available or may be ineffective. This is well illustrated in the case of gene therapy. It is aimed at curing diseases caused by malfunctioning genes by either removing, or adding or changing the genes in the affected individuals’ cells. Similarly, it is impossible and cutting-edge technologies such as CRISPR-based gene editing show so much potential, as they can eradicate diseases long thought impossible to treat. Furthermore, pharmacogenomics, which refers to the science of how drugs act on an individual based on their genetic profile, is making the available treatment more targeted, thus minimizing adverse effects and enhancing results”. Says Allen Seavert, Chief Marketing Officer, American TMS Clinics
Collaborative research efforts and their impact:
“It is imperative to unite researchers, healthcare providers, and patients in this endeavor due to the intricate nature of rare conditions. Genetic research has been the most prominent of these efforts and is aiding in the coordination of global combat missions against rare diseases. The Human Genome Project, and rare disease registry projects in general, give researchers extensive databases to pored over for the creation of remedies. These collaborations have also led to the establishment of biobanks and genetic databanks, within which patient’s DNA samples are gathered and analyzed. Thus, it allows researchers to be able to spot trends, looking at the results from different perspectives, and fast track the process of finding genes related to rare illnesses. The information and materials produced by such initiatives play a vital role in understanding the diseases better and in putting the results of research into practice in the treatment of the diseases”. Says Chris Lewandowski, President, Princess Dental Staffing
Ethical considerations in genetic research for rare diseases:
“The application of genetic science towards the treatment of medical conditions classified as rare is indeed the most advanced technology and has its own perspectives, yet ethical dilemmas are posed as well. One principle among them is privacy. Genetic data is sensitive in nature, hence measures on how it is stored and used should be put in place to prevent its misuse. Patients should be made aware of how their genetic information would be used and should be free to withdraw from the studies if they don’t wish to allow the use of their information. We should also touch on the issue of awareness and justice concerning the genetic intervention. Most of these modern objectives that fall under gene therapy peculiar units like gene editing are usually high-priced and not within reach for every patient. This creates imbalances on who gets to enjoy the fruits of these advancements. These ethical issues must be addressed so that the advances in genetics will not only be made available to some but will also be beneficial to all who suffer from the rare genetic conditions”. Says Laura Woolford, Chief People Officer at AlertMedia
Advances in genetic testing technologies:
“The transformation and management of rare diseases has undergone a seismic shift with the improved technology of genetic testing. Next generation sequencing and single-cell sequencing are some of the ways researchers can analyze DNA sequences in record times never known before. This is important in the research of rare diseases in that it facilitates the comprehension of the genetic mutations that cause such diseases much quicker and cheaper than before. Therefore, patients are receiving diagnosis quicker, which is imperative for resolving health issues effectively within the required timelines”. Says Bob Clarke, CEO of Furst Group, NuBrick Partners, and Salveson Stetson Group
The role of genetic counseling in rare disease management:
“In the age of genomic medicine, genetic counseling is a crucial part of addressing rare diseases. Counselors collaborate with patients and their families in the interpretation of the results of genetic tests, explaining the meaning of a given diagnosis. This helps people come to terms with the fact that their condition is in fact a genetic one and evaluates the risks of other family members developing the condition. Genetic counselors also focus on providing support to the patients but also lead them in the direction of treatments and clinical studies that can be accessed. They are the ones who bring genetic science closer to the patients and more importantly, make sure that people suffering from rare conditions have everything it takes to make the right health choices and decisions which are beneficial to them”. Says Matthew Ramirez, CEO, Rephrasely
Genetic therapies and their long-term potential:
“The creation of treatments using genes is a huge leap in the management of atypical conditions. Procedures like gene editing, RNA interference, and stem cell therapy are designed to treat genetic disorders from the source. To alter the genetic material responsible for a certain ailment, these types of treatment are said to be advanced and even superior where it provides a lasting or permanent solution”. Says Stephan Baldwin, Founder, Assisted Living Center
On the other hand, clinical applications do not follow the development of such therapies easily. The integrity and effectiveness of gene therapies, for example, must be established in clinical conditions, which may take several years. Moreover, operational aspects of such therapies such as their affordability and economic viability present further challenges. Nevertheless, the genetic therapies provide hope in addressing rare diseases where investment and efforts are active at the moment.
Public awareness and advocacy for genetic research:
“Informing the public about genetic approaches to rare diseases is fundamental to building backing and sponsorship for research. Many such advocacy groups and patient organizations are useful in articulating the plight of people who suffer from rare diseases. These organizations work to recruit audiences via the use of campaigns, events, and social networks, informing why people need to invest in genetic studies and how it can help change peoples’ lives for the better. Furthermore, there is a tendency for such advocacy campaigns to spur changes in policy that are favorable to rare disease programs. These organizations argue for additional resources, improved health care systems, and the provision of genetic testing, thereby promoting growth of genetic studies . It is also the responsibility of the public and the relatives of patients, as well as of the patients themselves, to ensure that the progress achieved with the help of genetics is helpful to relatives of patients all around the world”. Says Erik Pham, CEO, Health Canal
Conclusion:
There is no denying the importance of genetics in the treatment of rare diseases. Whether it is transforming their diagnoses or providing them with targeted therapies, genetics is indeed one of the modern medicine way developments. With changing times, the scope of these ics also increases and genetics can be a strong weapon to manage rare diseases better. Nonetheless, this advancement must be matched with ethical scrutiny and justice in healthcare, especially if all patients are to benefit from these advancements. When it comes to rare diseases, there was previously great despair, but genetics provides new prospects. With the help of genetic studies, the development of ethical and intergroup cooperation, and resolving their issues, the medical world is together on the way to a time when rare diseases will not only be known, but also treated, possibly even cured.
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