Early signs of Genetic Disorders

Expert session Questions and Answers

Genetic disorders are inherited in different ways. Some are due to mutations in parents and some are de novo. Or new variants. They are multifactorial. That means not just genes but lifestyle factors contribute in developing disease or phenotype ;
If you have a family history of diabetes and you are not careful of diet and your body composition is such that it increases sugar then you develop diabetes. Conversely it’s not necessary to have a gene that is defective.

Yes, some are. But some like SLE are multifactorial. You can get testing.

ADHD is caused due to variants. Not all are pathogenic.

Variant means. C+a+t = Cat. It has set meaning. A variant is when t+c+a. Then it doesn’t have meaning and if it’s pathogenic it causes disease.

Genetic diseases which are inherited are Thalassemia, Muscular dystrophy, Galactosemia – metabolic errors, Some eye conditions, Some cancer conditions.

A variant is never interpreted as solitary. The family must have affected people showing disease or there must be strong literature evidence showing it causes disease in individuals studied across the world

Autism is sometimes caused by variants as well. But their pathogenicity is determined by what we see in the individual.

They are multifactorial disorders. Not always genetic . Dementia is caused by degenerative changes in the brain. Sometimes Down’s syndrome may be genetic.

It is important to pick up early signs during pregnancy and when the baby is born. Nowadays tests are done in pregnancy also to know about the risk of few genetic conditions in the baby like Downs syndrome. If you have a family history it is important to let your doctor know so that testing is done in pregnancy itself. When a baby is born it can be screened for some metabolic errors which cause lifelong disability.

Thalassemia- bleeding will not stop if baby falls
Muscular dystrophy – child won’t walk properly, can’t climb stairs
Metabolic errors – sick baby, frequent hospitalisations
As parents you can track developmental milestones. Speech, language development, hearing, sight, grasp, these are all early signs. If the child has vision difficulty, frequent diarrhea or vomiting or altered urine colour and smell sometimes are early signs.

They have written that the significance is not known. That means literature evidence is less. So give your and husband’s samples. It will help with diagnosis to know if it’s inherited or de novo (new). I would suggest further tests also for him. But let’s do that separately not on WhatsApp.


You can google me and visit. I’ll do genetic counseling for you both and suggest.

There is no cure for it. The area of the short arm of chromosome 11 at 14.1 has genes; KIF18A, METTL15. There is a defect there.

It’s not syndrome. The function of genes gets compromised. But more detailed study will help to better understand.

Yes, sometimes. And sometimes it is caused by a deficiency like vitamin deficiency.

For precautions you can ask your oncologist. Cancer is a multifactorial disease. If you want to know if your child is predisposed then you have to first do testing for those affected. But I strongly advise genetic counseling before doing any genetic testing for your child. It has an impact for everyone.

Correct. Gene gets mutated in different ways and causes problems

You cannot cure mutations. You can only treat the symptoms (problems) of that disease as they manifest

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Dr. Manisha Doiphode – Early signs of Genetic Disorders

Dr. Manisha Doiphode – Early signs of Genetic Disorders

Dr. Manisha Doiphode is a clinical Geneticist and fetal medicine consultant. She has done her post-graduation from University College London. She has been practising in PCMC from the last 15 years. She does genetic counseling and procedures like amniocentesis. She has the distinction of establishing PCMC’s first standalone genetic clinic & genetic Laboratory. Till date she has managed 10000 patients. Her expertise is diagnosis & management of genetic disorders and management of couples before conception.

The Sessions

Dr. Manisha Doiphode – Early signs of Genetic Disorders will be the topic where he will be taking the session at upcoming 5To15 event.