The model of genomic therapy era | Huanxin student, and the 4th China SMA conference online to hold ②

"Huanxin students and move forward", on August 5-7, the fourth China SMA conference theme, with doctors, patients, and the vast number of audiences who care about spinal muscle atrophy (SMA). For rare diseases, because of less patients, low market demand, and lack of motivation for drug research and development, many diseases are facing a situation where there is no medicine. The SMA has made breakthroughs in the development of drugs and genetic diagnosis. The new diagnosis methods and therapeutic drugs have been released one after another, which can be called a model of genomic therapy.

The "Fourth China SMA Conference" was led by the China Rare Disease Alliance and the China SMA Diagnosis and Treatment Center Alliance, and the Beijing Meier's spinal muscle atrophy and Caring Center was hosted. The conference invited more than 30 experts from domestic and foreign research, pediatrics, neurology, respiratory, orthopedics, rehabilitation and other related disciplines. In the era of gene therapy, we must first do a good job of genetic consultation and try to reduce the risks of children with childbirth. Therefore, the conference is mainly focused on SMA prevention, diagnosis, and rehabilitation practice.

The conference was broadcast live in medical newspapers, Baidu Health, Today's Headline, Sina News, Weibo Health, Maritime Doctors and White Coats.

01

SMA prevention

Chen Jinyun genetic consultant

SMA's early diagnosis and treatment is the key

Chen Jinyun genetic consultants at the Massach studies and Genome Medical Center in the United States analyzed the importance of SMA genetic consultation with clinical cases. She said that the early diagnosis and treatment of SMA is the key to maximize the quality of life of individuals and caregivers. In the era of new treatment, the three drugs approved by the FDA brought the hope of patients and family members, but these drugs could not be completely cured and the impact of drugs on the future is uncertain, so it is necessary to emphasize that patients and family members continue to maintain the follow -up of multiple disciplines.

Chen Jinyun's genetic consultant emphasized that genetic testing and genetic consultation became an indispensable part of clinical nursing in the period of genome.

Professor Wendy Chung

Newborn SMA screening is necessary and feasible

Professor Wendy Chung of Columbia University introduced the case of SMA newborns screening. She emphasized that it is feasible for newborns to conduct SMA screening. At present, this screening has been implemented in 47 states across the United States, covering 97%of newborn. Compared with the past, the birth rate of SMA has declined because of prenatal screening, some suspects have made a choice.

At present, most newborn SMA patients have chosen gene therapy or comprehensive treatment, which greatly improves the prognosis of patients. The prognosis of SMA patients is affected by SMN2 copies. Professor Chung believes that the work of SMA patients has just begun, and it is necessary to speed up the data to collect data to provide more information for clinical clinical. In the future, I hope that there will be more international studies, collecting treatment -related data, and iterative to determine that the treatment method is more matched with the suitable population to optimize the treatment strategy and the timing of treatment.

Professor Sun Luming

SMA detection seize two main time points

Professor Sun Lu Ming, a fetal medical department of the First Maternal and Baby Health Hospital of Shanghai, told SMA's pre -pregnancy and prenatal screening and diagnosis. At present, targeted carrier screening is 1+0, 2+0 carriers cannot be detected, and scalability carriers screening includes more than 100 hidden genetic disease carrier screening, including SMA, including SMA , Pseudo -hypertrophic muscle malnutrition (DMD), thalassemia, etc.

Professor Sun Luming introduced that if both husband and wife are SMN1, the 7th outer sub -miscellaneous and miscellaneous group, the risk of childbirth is 25%, and the prenatal diagnosis needs to be performed; The other party is two copies, so the risk of fertility SMN patients is extremely low. Because the carrier of 2+0 is unable to detect, new genetic point mutations and other reasons, the risk of suffering from SMA cannot be completely ruled out.

Professor Sun Luming emphasized two important consultations. One is a pre -pregnancy test, and the other is a consultation during early pregnancy. It is best to conduct at 8 to 10 weeks of pregnancy.

Professor Shen Yiping

All couples should be screened before the pre -pregnancy carrier

Professor Shen Yiping, Boston Children's Hospital of Harvard Medical College, emphasized that as a rare disease, SMA is a model of genomic Medicine. There are six major contents of "diagnosis, control, treatment, promotion, prevention, and health". Help. From "symptomatic" to the treatment of "right", medicine cannot be separated from the development of genetic testing.

Why do all couples screely screen for pre -pregnancy carriers? Professor Shen Yiping explained that almost all patients with SMA were born in families with healthy people who were healthy people and could not be found children from the screening of prenatal ultrasound. SMA is a hidden genetic disease and has a high carry rate. It is not possible to predict the risk of fertility SMA patients without the screening of carriers. Through the screening of the carrier, the high -risk couple can be grasped. For Shuangyang couples, there are mature and reliable three -generation test tube technology, prenatal diagnosis technology and genetic consulting support. SMA is a disabled genetic disease. At present, there is no economic and effective drug treatment, which brings a heavy burden on the family. If pre -pregnancy and prenatal screening can effectively reduce the risk of children with children.

02

SMA diagnosis

Professor Mao Shanshan

Learn to identify SMA's first symptoms

Professor Mao Shanshan of Children's Hospital of Zhejiang University Medical College introduced SMA's early identification and precision diagnosis. "Early identification difficulties are the root cause of diagnosis delay." Professor Mao Shanshan emphasized that whether it is parents or doctors, fully understanding and identifying the first symptoms of SMA will help improve the status of SMA delay diagnosis. Parents should be vigilant for children who have decreased muscle tension, slow exercise development, and backward exercise ability. One of the major features of SMA children is that the intelligence is normal, which can be identified with many other diseases. Clinically, doctors should do a comprehensive physical test for patients, weakening the tendon reflexes of the body, and muscle power spinal corner lesions. Only when doctors and parents identify can they complete the diagnosis of children earlier. In addition, precision diagnosis is a necessary condition for the treatment of SMA diseases. Therefore, height suspected patients should conduct genetic testing before treatment to clarify SMN1 mutations. Professor Mao Shanshan emphasized that the whole life cycle SMA needs to achieve full -disease management to improve the quality of survival of SMA patients.

Professor Song Yan

The development of SMA gene diagnosis is of great significance

Professor Song Yan of the Institute of Capital Pediatrics pointed out that from the perspective of pathophysiology, 4 pathological characteristics of spinal cord after birth after SMA patients include: motor nerve meta -loss, air cell bed, neuroplasma beam of the abdominal nerve root, and ectopic motor nerves Yuan. For children with SMA, more than 95%of them are in a lack of pure combination. The use of genetic technology testing can be diagnosed with SMN1 copy number analysis. In addition, 5%of patients belong to SMN1 composite hybrid mutation cases. One of them is positive for SMN1 copy number analysis, and the other occurs a bit of mutation. The genome detection is required to confirm the diagnosis.

SMA gene diagnosis is not only conducive to crowd prevention, patient treatment, family regeneration, and genetic consultation, but also benefit from increasing disease knowledge, development of new diagnostic technologies, and discovering new treatment targets.

Discussion: SMA prevention and diagnosis in the context of disease correction treatment

In the discussion session, Professor Sun Luming, Professor Shen Yiping, Professor Mao Shanshan, Professor Song Yan and Dr. Ma Yinan discussed the SMA prevention and diagnosis in the background of the disease correction treatment.

03

SMA Rehabilitation Practice Guidance

Xiandong Tianyang Deng

Work therapy in rehabilitation treatment

The Japan JWC Rehabilitation Management Association Xiandong Tianyang Deng introduced the thinking of operating therapy required by SMA patients. The so -called operating therapy, including functional training, psychotherapy, career training, and daily life training, the purpose enables patients to adapt to the environment of personal life, family life and social life.

Xiandong Tianyang Deng emphasized that when doing physical therapy services, it is necessary to evaluate the constituent elements required for the patient's rough movement, and strengthen the constituent elements it needs to lead the patient's acquisition and improvement of the rough exercise, that is, it requires neurophysiology Think with human sports.

When conducting operational therapy services, the patient needs to be evaluated to realize the obstacles faced by self -care for daily living ability, adjust the changes in time to these obstacles, or to lead the self -care of the daily life capacity through the improvement of the patient's own function. This requires the service to serve the service. Those who feel physiological and environmental physiology as a shaft.

Xiandong Tianyang Deng also introduced the list of physical therapy and work therapy in practice in the lecture, which provided guidance for practical exercises.

Director Li Hui therapist

Find out the patient's stability problem and problem avoidance strategy

Li Hui, an affiliated Pediatric Hospital affiliated to Fudan University, introduced the foundation of SMA children and adults -posture, and life and learning in the correct posture. Bad posture can cause many serious consequences, such as low exercise efficiency, potential destructive exercise mode, muscle imbalance, and wrong biomechanics or tissue damage. Usually patients rarely realize that they are avoiding a certain sports mode, because this has become their "normal" strategy, and the consequences caused by posture change are only time issues. As a therapist, the key to work is to find out the patient's stability problem and the problem of "avoidance" strategies, improve the "weak chain", and rebuild the ideal posture, stability and motion mode.

Li Hui, the therapist Li Hui introduced the precautions of the main points of normal posture in detail. She emphasized that the activity of patients with corrected treatment needs to pay addition to the management of posture. It is necessary to perform a 24 -hour posture supervision and regular follow -up evaluation intervention.

Xu Xiange

It is important to choose suitable auxiliary tools

Xu Xiange, a professional lecturer, auxiliary instrumental rehabilitation service center of Beijing Congress, introduced the significance of posture control and auxiliary tools to patients with SMA. When SMA children keep their posture, they need assistance support. Especially for children with unsatisfactory posture control, choosing suitable auxiliary devices is particularly important for maintaining their posture. From a professional perspective, Xu Xiange introduced different functions, such as skill training auxiliary tools, artifacts, self -care and protection, personal mobile auxiliary tools, and housework auxiliary tools.

He emphasized that there are many ways to produce posture control devices. The focus is not craftsmanship, but reasonable ideas and corresponding experience.

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