6th International Conference on Rare Diseases and Orphan Drug

Click Here to know the Program:   https://rarediseases-orphan.conferenceseries.com/scientific-program

Know More About Von Hippel–Lindau Disease, and How we Can Fix It: Von Hippel–Lindau disease (VHL), is a rare genetic disorder with multisystem involvement. It is described by visceral cysts and benign tumors with potential for consequent malignant transformation. It is also known as familial cerebello retinal angiomatosis. It is a type of phakomatosis that results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3. The disease is similarly categorized by an increased risk of developing the following types of tumors: ·         Hemangioblastomas of the central nervous system - Benign (noncancerous) tumors made up of nests of blood vessels in the brain and spine ·         Hemangioblastomas of the retina ·         Pheochromocytomas – A neuroendocrine tumor, typically benevolent, inside or outside of the adrenal gland ·  ...

Multiple births are progressively basic due to the advancing normal time of mothers and the related ascent in helped regenerative techniques, specifically the utilization of fertility drugs . Twins represent over 90% of numerous births. Twins are usually categorized into two that is – identical ( monozygotic ) and fraternal ( dizygotic ). Monozygotic twinning results in genetically identical individuals, whereas dizygotic twins share approximately 50% of their DNA sequence identity, as do full siblings. Sesquizygosity is a third form of rare twinning — whereby twins are genetically identical to each other with respect to one parent but differ from each other by approximately 50% with respect to the composition of DNA inherited from the other parent. It probably arises after heterogoneic assortment of two paternal genomes and one maternal genome during the first postzygotic cleavage division. Genetically, sesquizygosis can be viewed as on a continuum among monozygosis and...

Tay-Sachs disease is a rare, inherited disease . It is a type of lipid metabolism disorder in which deficiency of an enzyme ( hexosaminidase A ) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. It makes a lot of a fatty substance to develop in the brain. This development ruins nerve cells, causing mental and physical complications. Maximum people have two healthy sorts of this HEXA gene, which provides guidelines to your body to make an enzyme (a type of protein) known as Hex-A. This enzyme inhibits the development of a fatty substance, called GM2 ganglioside, in the brain and spinal cord. Infants usually begin to show signs of the disease between 3 months and 6 months of age. Children with Tay-Sachs disease can become deaf, blind and paralyzed, and generally die by the age of 5. Tay-sachs is named after two physicians Warren Tay, was an ophthalmologist who was the first to determine a red dot on the retina of on...

Human Germline Modification is the advancement by which the genome of an individual is reformed with the goal the change is genetic. This is completed through hereditary changes inside the germinal cells, or the reproductive cells, for example, the oocyte and spermatogonium . Gene therapy comprises of altering somatic cells , which are for the most part cells in the body that are not involved in reproduction. While gene therapy changes the genome of the targeted cells, these cells are not inside the germline, so the modifications are not heritable and cannot be passed on to the next generation. Human germline modification has for a long time been generally thought to be beyond reach, for both safety and social reasons. In current research, another age of hereditary engineering methods, known as " gene editing " or " genome editing ," has motivated theory about their utilization in human incipient organisms or gametes.  The main effort to alter the ...

Non-Hodgkin Lymphoma is a group of blood cancers which is a rare haematological diseases , that starts in white blood cells called lymphocytes , which are part of the body’s immune system . Risk Factor includes poor immune function, autoimmune diseases , Helicobacter pylori infection , hepatitis C , obesity and   Epstein- Barr virus infection . It is also known as NHL or sometimes just lymphoma. NHL often affects adults but children can get it too. It starts in lymph nodes or other lymph tissue, but also affects the skin. Lymphoma influences the body’s lymph system. The lymph system is a fragment of immune system, which helps fight infections and some other diseases. It additionally enables liquids to travel through the body. Lymphomas can begin anyplace in the body where lymph tissue is found. The main sites of lymph tissues are L ymph nodes – They are bean-sized collections of lymphocytes and other immune system cells throughout body . They are associated by a ...

Xia-Gibbs syndrome is a recently discovered Rare Genetic Disorder that is initiated by a heterozygous mutation in the AHDC 1 gene on Chromosome 1p36 .So it is ultimately known as AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome . Affected people usually present with developmental delay, low muscle tome, failure to thrive, breathing difficulties when sleeping, mildly unusual facial features. Symptoms:   Symptoms of Xia-Gibbs Syndrome include, ·          Expressive language skills are particularly affected; children with this condition usually do not speak their first word, a milestone typically achieved within the first year, until age two or later, and some never learn to talk. ·          Development of motor skills, such as crawling and walking, can also be delayed. ·          Other signs and symptoms of...

The truth about severe PTSD identification by brain marker is about to be revealed: Post-Traumatic Stress Disorder is an anxiety disorder that can develop in response to a stressful event or situation of exceptionally threatening or catastrophic nature. It usually develops followings a single episode of trauma . Patients have the capacity to forget but in complex PTSD case they will get flashbacks and nightmares associated with insomnia from time to time. It is associated with behavioural issues and reckless activities like binge eating, abnormal sexual activities and drug and alcohol abuse. Although its diagnostic features have been recently re-classified with the emergence of the Diagnostic and Statistical Manual for Mental Disorders, it remains characterized by hyperarousal, intrusive reminders of the trauma, prevention of trauma-related indications, and negative cognition and mood. This heterogeneity specifies the presence of multiple neurobiological mechanisms und...

The effect of sleep deprivation and disruption on DNA damage DNA damage and repair are dynamic processes that may be affected by various conditions and cellular events. Animal studies have shown that sleep loss can induce genetic damage in different organs. Sleep deprivation is known to induce oxidative stress, and there is increasing interest in genomic changes related to sleep deprivation. The way people’s genes work is altered when their body clock is interrupted. A study has shown that sleep deprivation does more harm to the human body, than imagined. According to it, sleep deprivation can affect our genes and lead to the destruction of our DNA. Damaged DNA amplified after only one night of sleep deprivation. According to the researchers, this damage may help illuminate the increased risk for cancer and cardiovascular, metabolic diseases as well as neurodegenerative disorders that are usually related with sleep deprivation. Although this work is very preliminary...

High Blood Sugar during pregnancy is related with congenital heart defects, which is one of the most Rare Cardiac Disorder . Congenital heart defects or diseases are the complications with the heart’s structure that are available during childbirth. They might change the normal flow of blood through the heart. These are the most widely recognized kind of birth defect. There are various types of congenital heart defects. The most well-known defects involve the inside walls of the heart, the valves of the heart, or the large blood vessels that carry blood to and from the heart. Particular defects require no treatment, but some require treatment soon after birth. Because analysis and treatment of congenital heart defects has developed, more babies are surviving and now many adults are living with congenital heart defects.           Congenital heart disease is the (CHD) consequence of a complex relations between genetic and non-genetic, o...

Chronic Kidney Disease Chronic Kidney Disease is a Rare Diseases of Genitourinary System , & type of slow and long term condition that damage kidneys and decrease their ability to keep healthy. It is also called as chronic renal failure or chronic kidney failure. It is a common condition often associated with getting older, although it’s more common in black people of south Asian origin.  The disease is called “chronic” because the damage of kidney happens slowly over a long period of time & also this damage can cause wastes to build up in body, which also can cause other health problems. Symptoms Signs and symptoms of chronic kidney disease grow over time if kidney damage progresses slowly. Signs and symptoms of this disease may include, ·         Sleep problems ·         Decreased Mental Sharpness ·         Swelling of feet and ankels · ...