6th International Conference on Rare Diseases and Orphan Drug

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 ·         Renal cell carcinoma - Cancerous tumor of the kidney that arises in about 70 percent of individuals with V

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 syst

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  Xia-Gibbs syndrome vary among affected individuals. Additional neurological features include poor coordination and balance a